diff --git a/efo-base.owl b/efo-base.owl index 36e52089..f415521c 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -53,7 +53,7 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-10-28 + 2024-10-31 3.71.0 diff --git a/src/ontology/components/mondo_efo_import.owl b/src/ontology/components/mondo_efo_import.owl index 3287d39a..32f50348 100644 --- a/src/ontology/components/mondo_efo_import.owl +++ b/src/ontology/components/mondo_efo_import.owl @@ -10897,6 +10897,7 @@ Declaration(Class(obo:MONDO_0023691)) Declaration(Class(obo:MONDO_0023692)) Declaration(Class(obo:MONDO_0023726)) Declaration(Class(obo:MONDO_0023757)) +Declaration(Class(obo:MONDO_0023833)) Declaration(Class(obo:MONDO_0023865)) Declaration(Class(obo:MONDO_0023868)) Declaration(Class(obo:MONDO_0023910)) @@ -318334,6 +318335,29 @@ AnnotationAssertion(skos:exactMatch obo:MONDO_0023757 ) SubClassOf(Annotation(oboInOwl:source "MESH:C537458") obo:MONDO_0023757 ) +# Class: obo:MONDO_0023833 (multifocal choroiditis) + +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "GARD:0009824") obo:IAO_0000115 obo:MONDO_0023833 "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:GARD") oboInOwl:hasDbXref obo:MONDO_0023833 "GARD:9824") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0023833 "MEDGEN:288551") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentObsolete") oboInOwl:hasDbXref obo:MONDO_0023833 "MESH:C537374") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0023833 "MESH:D000080364") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0023833 "SCTID:414783007") +AnnotationAssertion(Annotation(oboInOwl:source "MEDGEN:288551") Annotation(oboInOwl:source "MONDO:MEDGEN") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0023833 "UMLS:C1533060") +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref obo:MONDO_0023833 "icd11.foundation:1197219411") +AnnotationAssertion(oboInOwl:id obo:MONDO_0023833 "MONDO:0023833") +AnnotationAssertion(Annotation(oboInOwl:source "GARD:9824") Annotation(oboInOwl:source "MONDO:GARD") oboInOwl:inSubset obo:MONDO_0023833 mondo-base:gard_rare) +AnnotationAssertion(Annotation(oboInOwl:source "MONDO:NORD") oboInOwl:inSubset obo:MONDO_0023833 mondo-base:nord_rare) +AnnotationAssertion(oboInOwl:inSubset obo:MONDO_0023833 mondo-base:rare) +AnnotationAssertion(rdfs:label obo:MONDO_0023833 "multifocal choroiditis") +AnnotationAssertion(Annotation(oboInOwl:source "GARD:0009824") rdfs:seeAlso obo:MONDO_0023833 "https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis"^^xsd:anyURI) +AnnotationAssertion(skos:exactMatch obo:MONDO_0023833 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0023833 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0023833 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0023833 ) +AnnotationAssertion(skos:exactMatch obo:MONDO_0023833 ) +SubClassOf(Annotation(oboInOwl:source "MESH:C537374") obo:MONDO_0023833 obo:MONDO_0001280) + # Class: obo:MONDO_0023865 (corneal infection) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C83813") obo:IAO_0000115 obo:MONDO_0023865 "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.") diff --git a/src/ontology/imports/mondo_terms.txt b/src/ontology/imports/mondo_terms.txt index 55a3fc5e..971c1cfe 100644 --- a/src/ontology/imports/mondo_terms.txt +++ b/src/ontology/imports/mondo_terms.txt @@ -9708,6 +9708,7 @@ http://purl.obolibrary.org/obo/MONDO_0023691 http://purl.obolibrary.org/obo/MONDO_0023692 http://purl.obolibrary.org/obo/MONDO_0023726 http://purl.obolibrary.org/obo/MONDO_0023757 +http://purl.obolibrary.org/obo/MONDO_0023833 http://purl.obolibrary.org/obo/MONDO_0024189 http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0024252 diff --git a/src/ontology/iri_dependencies/mondo_terms.txt b/src/ontology/iri_dependencies/mondo_terms.txt index 99fa40f4..d304481d 100644 --- a/src/ontology/iri_dependencies/mondo_terms.txt +++ b/src/ontology/iri_dependencies/mondo_terms.txt @@ -11081,3 +11081,4 @@ http://purl.obolibrary.org/obo/MONDO_0957196 http://purl.obolibrary.org/obo/MONDO_0800453 http://purl.obolibrary.org/obo/MONDO_0000358 http://purl.obolibrary.org/obo/MONDO_0042976 +http://purl.obolibrary.org/obo/MONDO_0023833 diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index 8489629b..387cada7 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -1151,7 +1151,7 @@ "icd11.foundation:1883086071 MEDGEN:508043 SCTID:238525001 UMLS:C0031736" "The amount of a estradiol 17-beta-dehydrogenase 11 when measured in blood serum." "MEDGEN:1683284 UMLS:C5191059 GARD:17285 Orphanet:276598" - "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "Orphanet:386 UMLS:C1333971 MEDGEN:232278 NCIT:C5751 GARD:2651 SCTID:715397000" + "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "Orphanet:386 UMLS:C1333971 MEDGEN:232278 GARD:2651 NCIT:C5751 SCTID:715397000" "Quantification of cytochrome c oxidase subunit 5B, mitochondrial in a sample." "PMID:29875488" "The amount of a adhesion G protein-coupled receptor L3 when measured in blood serum." "Extraembryonic cells of trophoblastic shell surrounding embryo, outside the cytotrophoblast layer, involved with implantation of the blastocyst by eroding extracellular matrix surrounding maternal endometrial cells at site of implantation, also contribute to villi. (dark staining, multinucleated)." "Wikipedia:Syncytiotrophoblast FMA:83040 NCIT:C33918 SCTID:256965005 BTO:0001335 EHDAA:129 UMLS:C1135936 EMAPA:16068 EHDAA:91" @@ -1861,7 +1861,7 @@ "quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea" "PMID:28073367" "A uterine disease that is characterized by inflammation." "MEDGEN:541692 ICD10:N71 DOID:13736 MONDO:0001786 ICD10:N71.9 SCTID:28783002 UMLS:C0269047 ICD9:615.9" - "A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV)." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV)." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "The determination of the amount of histone deacetylase 8 in a sample" "PMID:28240269" "Quantification of the amount of X-12714 in a sample." "PMID:35347128" @@ -2436,7 +2436,7 @@ "Quantification of the amount of adrenomedullin in a sample" "PMID:33067605" "The amount of a kinesin-like protein KIF3B when measured in blood serum." - "A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." "SCTID:363360003 ICD9:141.4 MESH:D014062 DOID:8649 NCIT:C9345 MEDGEN:102262 ICD9:141.3 ICD9:141.6 ICD9:141.5 ICD9:141.0 UMLS:C0153349 ICD9:141 ICD9:141.9 ICD9:141.2 ICD9:141.1" "Quantification of the amount of X-24571 in a sample." "PMID:35347128" @@ -3646,7 +3646,7 @@ "OMIM:310440 ICD10:G71.8" - "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 FMA:18245 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560" + "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560 FMA:18245" "A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." @@ -6129,7 +6129,7 @@ "ICD10:Q93.5" "OMIM:276950 ICD10:Q87.8 OMIM:314390" - "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" + "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 XAO:0004198 Wikipedia:Enamel_organ MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" "quantification of the amount of chromogranin B cleavage product in a sample" "MeSH:C537986 MeSH:C538078 ICD10:G60.0 OMIM:118300 UMLS:C1861669 UMLS:C2931686" @@ -6331,7 +6331,7 @@ "Quantification of intestinal-type alkaline phosphatase in a sample." "PMID:29875488" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas." - "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 ICD10:G21 UMLS:C0030569 DOID:13548 MESH:D010302 MONDO:0006966" + "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 UMLS:C0030569 ICD10:G21 DOID:13548 MESH:D010302 MONDO:0006966" "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "GARD:7864 SCTID:444707001 DOID:2749 MESH:C538655 OMIM:232200 UMLS:C2919796 MEDGEN:415885 NANDO:2201153 Orphanet:79258" "The amount of a polyphosphoinositide phosphatase when measured in blood serum." "The amount of a Isoleucyl-Threonine when measured in blood." "PMID:37253714" @@ -6901,7 +6901,7 @@ "A reduction in the length of time required for food to pass through the intestines." "The determination of the amount of delta-like protein 1 in a sample" "PMID:28240269" "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." "ICD10CM:C64-C68 NCIT:C9297 MEDGEN:738719 ICD10:C64.C68 UMLS:C1644719 ICD10:C68.9 ICD9:189.9 DOID:3996 EFO:1000363 SCTID:448233000 MONDO:0006295" - "A phenol that is a natural monoterpene derivative of cymene. An inhibitor of bacterial growth, it is used as a food additive. Potent activator of the human ion channels transient receptor potential V3 (TRPV3) and A1 (TRPA1)." "PMID:22183117 KEGG COMPOUND:499-75-2 CiteXplore:21938469 CiteXplore:22129102 NCIt:C83602 PMID:21447440 PMID:22129102 PMID:22328722 KNApSAcK:C00000156 ChemIDplus:499-75-2 PMID:22002497 PMID:22273461 KEGG:C09840 CiteXplore:22139435 PMID:22289589 CiteXplore:21879312 CiteXplore:22273461 CiteXplore:22289589 CiteXplore:21447440 PMID:21938469 ChEMBL:138580 NIST Chemistry WebBook:499-75-2 ChemIDplus:1860514 MeSH:C073316 LIPID_MAPS_instance:LMPR0102090017 CiteXplore:22002497 PMID:22139435 Wikipedia:Carvacrol CiteXplore:22305883 CiteXplore:21544887 CiteXplore:22183117 PMID:22305883 KEGG COMPOUND:C09840 CiteXplore:22308777 CAS:499-75-2 PMID:21815724 CiteXplore:22328722 Beilstein:1860514 PMID:21544887 SNOMEDCT:109231009 CiteXplore:21815724 PMID:22308777 PMID:21879312" + "A phenol that is a natural monoterpene derivative of cymene. An inhibitor of bacterial growth, it is used as a food additive. Potent activator of the human ion channels transient receptor potential V3 (TRPV3) and A1 (TRPA1)." "PMID:22183117 KEGG COMPOUND:499-75-2 CiteXplore:21938469 CiteXplore:22129102 NCIt:C83602 PMID:21447440 PMID:22129102 PMID:22328722 KNApSAcK:C00000156 ChemIDplus:499-75-2 PMID:22002497 PMID:22273461 KEGG:C09840 CiteXplore:22139435 PMID:22289589 CiteXplore:21879312 CiteXplore:22289589 CiteXplore:22273461 CiteXplore:21447440 PMID:21938469 ChEMBL:138580 NIST Chemistry WebBook:499-75-2 ChemIDplus:1860514 MeSH:C073316 LIPID_MAPS_instance:LMPR0102090017 CiteXplore:22002497 PMID:22139435 Wikipedia:Carvacrol CiteXplore:22305883 CiteXplore:21544887 CiteXplore:22183117 PMID:22305883 KEGG COMPOUND:C09840 CiteXplore:22308777 CAS:499-75-2 PMID:21815724 CiteXplore:22328722 Beilstein:1860514 PMID:21544887 SNOMEDCT:109231009 CiteXplore:21815724 PMID:22308777 PMID:21879312" "The determination of the amount of DNA repair protein rad51 homolog 1 in a sample" "PMID:28240269" "Quantification of very long-chain acyl-CoA synthetase in a sample." "PMID:29875488" "Quantification of junctophilin-3 in a sample." "PMID:29875488" @@ -7239,7 +7239,7 @@ "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "MEDGEN:10804 ICD9:518.89 MESH:D010995 SCTID:88075009 DOID:1532 NCIT:C26859 UMLS:C0032226" "Inbred Strain." "TGEMO:00035 MGI:2165020" "DOID:0050387 OMIM:144700" - "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. [ NCIT ]" "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 MONDO:0021420 MedDRA:10047675 NCIT:C3440" + "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. [ NCIT ]" "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 NCIT:C3440 MONDO:0021420 MedDRA:10047675" "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "ICD9:131.00 SCTID:35089004 DOID:0050269 MeSH:D014247 ICD9:131.09 MONDO:0005993 DOID:11943 MESH:D014247 NCIT:C35083 ICD10CM:A59.0" "SNOMEDCT:29576004" @@ -8575,7 +8575,7 @@ "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." "ICD9:129 MEDGEN:196662 SNOMEDCT:56733003 SNOMEDCT:187239003 SNOMEDCT:128940004 SNOMEDCT:128938009 MeSH:D010272 ICD9:136.8 DOID:1398 SCTID:17322007 SNOMEDCT:17322007 ICD9:134.9 NCIT:C27864 ICD9:360.13 ICD10:B88 MONDO:0005135 ICD9:376.13 SNOMEDCT:57100005 ICD9:136.9 MeSH:D018512 SNOMEDCT:312418006 MESH:D010272 NCIt:C27864 ICD9:136.4 UMLS:C0747256 ICD9:134.8" "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "GARD:10290 Orphanet:166277 MEDGEN:387969 MESH:C565734 OMIM:604922 UMLS:C1858032" "The amount of a histamine N-methyltransferase when measured in blood." "PMID:37794183" - "Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." "BTO:0004353 GAID:681 EFO:0001391 MBA:453 FMA:242642 SCTID:279252006 MESH:D013003 BAMS:SS neuronames:3241" + "Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus." "BTO:0004353 GAID:681 EFO:0001391 MBA:453 FMA:242642 SCTID:279252006 BAMS:SS MESH:D013003 neuronames:3241" "MEDGEN:1741594 icd11.foundation:3040646 Orphanet:295177 UMLS:C5437916" "Quantification of the amount of ATP synthase subunit O; mitochondrial measurement in a sample." "PMID:36168886" "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" "MeSH:D020759 MONDO:0006650 UMLS:C0221069 DOID:6712 ICD9:433.80 SNOMEDCT:14363008 MedDRA:10002703 SCTID:2972007 MEDGEN:65125 MESH:D020759" @@ -9787,7 +9787,7 @@ "Human T cell leukemia; established from the peripheral blood of a 4-year-old girl with T cell acute lymphoblastic leukemia (T-ALL) in second relapse in 1977" "RRID:CVCL_1913 BTO:0001959 CLO:0008416" "Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4." "ZFA:0001244" "OMIM:614753 OMIM:117550 MedDRA:10064387 MeSH:D058495 ICD10:Q87.3 UMLS:C0175695 OMIM:617169" - "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." "GARD:21897 DOID:4492 UMLS:C0016627 SNOMEDCT:55604004 MESH:D005585 Orphanet:454836 MONDO:0018695 MedDRA:10064097 MEDGEN:42091 SCTID:55604004" + "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." "GARD:21897 DOID:4492 UMLS:C0016627 SNOMEDCT:55604004 MESH:D005585 Orphanet:454836 MONDO:0018695 MEDGEN:42091 MedDRA:10064097 SCTID:55604004" "The amount of a proteasome subunit alpha type-7 when measured in blood serum." @@ -10500,7 +10500,7 @@ "Human colon carcinoma cell line (DSMZ catalog number ACC 467)" "A lymphoma that involves the urinary bladder." "MEDGEN:231948 DOID:11821 NCIT:C6164 UMLS:C1332561" "The amount of a phosphatidylcholine-sterol acyltransferase when measured in blood serum." - "Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 ICD10:G21 UMLS:C0030569 DOID:13548 MESH:D010302 MONDO:0006966" + "Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 UMLS:C0030569 ICD10:G21 DOID:13548 MESH:D010302 MONDO:0006966" "Quantification of the amount of X-12435 in a sample." "PMID:24816252" "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "UMLS:C1838654 Orphanet:1422 MEDGEN:333149 OMIM:600092 GARD:16565 MESH:C536123 DOID:0060644 SCTID:720851007" @@ -11434,7 +11434,7 @@ "UMLS:C1854978 MESH:C565370 MEDGEN:381529 GARD:18505 NCIT:C176908 OMIM:252270" "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." "ICD9:271.8 MEDGEN:5697 GARD:16530 DOID:2977 NANDO:2200503 UMLS:C0020501 Orphanet:416 MedDRA:10020703 OMIMPS:259900 MESH:D006960 NORD:1608 NCIT:C123158 SCTID:17901006" "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." "MEDGEN:347563 OMIM:609755 UMLS:C1857845" - "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "Quantification of cholesterol in large LDL." "A hemangioma arising from the skin." "NCIT:C4905 DOID:471 SCTID:93471006 MEDGEN:151951 UMLS:C0687140" "A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism." "Wikipedia:Desmosome" @@ -11467,7 +11467,7 @@ "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." "DOID:13159 UMLS:C0349551 SCTID:276860003 MEDGEN:138101 NCIT:C4643" "Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene." - "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 MONDO:0021420 MedDRA:10047675 NCIT:C3440" + "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "icd11.foundation:1351291002 MEDGEN:21887 UMLS:C0042929 SCTID:9078005 NCIT:C3440 MONDO:0021420 MedDRA:10047675" "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa." "DOID:0111910 NCIt:C80076 MEDGEN:766708 OMIM:618152 SNOMEDCT:48188009 OMIM:618433 OMIM:618091 OMIM:618420 MONDO:0004983 OMIM:618112 OMIM:618110 DOID:14227 UMLS:C3553794 SNOMEDCT:425558002 OMIM:618086 OMIM:618115 MeSH:D053713 ICD9:606.0 MedDRA:10003883 OMIM:618153 OMIM:618429 OMIM:618341 OMIMPS:258150" "A polychromatiic erythroblast that is Gly-A-positive and CD71-low." "Quantification of GTP cyclohydrolase 1 in a sample." "PMID:29875488" @@ -11531,7 +11531,7 @@ "OMIM:300864 ICD10:Q87.8" "Quantification of melanoma-associated antigen B10 in a sample." "PMID:29875488" "The amount of a C-type lectin domain family 1 member A when measured in blood." "PMID:37794183" - "An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." "GARD:21897 DOID:4492 UMLS:C0016627 SNOMEDCT:55604004 MESH:D005585 Orphanet:454836 MONDO:0018695 MedDRA:10064097 MEDGEN:42091 SCTID:55604004" + "An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." "GARD:21897 DOID:4492 UMLS:C0016627 SNOMEDCT:55604004 MESH:D005585 Orphanet:454836 MONDO:0018695 MEDGEN:42091 MedDRA:10064097 SCTID:55604004" "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." "UMLS:C1845977" "The amount of a interferon alpha-1/13 when measured in blood serum." "This human ES cell line expresses cell surface markers specific to undifferentiated nonhuman primate ES and human EC cells: stage-specific embryonic antigen (SSEA)–3, SSEA-4, TRA-l-60, TRA-1- 81, and alkaline phosphatase. It has a normal 46, XX karyotype. Teratomas are formed upon cell injection into SCID mice. These teratomas include cells from all three germ layers.\n\nIsolation & Growth Conditions\nThis cell line can be cultured using feeder cells or in a feeder-free protocol. When using feeder cells, human ESC culture medium should be compreised of Advanced DMEM/F12 supplemented with knockout serum replacement (20%), non-essential amino acids (1x), L-glutamine (1x), penicillin/streptomycin (1x), β-mercaptoethanol (1x) and FGF-2 (4 ng/ml). Maintain the human ESCs on Matrigel using hESC medium conditioned by mouse embryonic fibroblasts." "PMID:18564034" @@ -11897,7 +11897,7 @@ "Quantification of rho-related GTP-binding protein Rho6 in a sample." "PMID:29875488" "The amount of a sorting nexin-15 when measured in blood serum." "A primary or metastatic malignant neoplasm involving the esophagus." "UMLS:C0546837 ICD9:150.5 SCTID:363402007 NCIT:C4764 NCIT:C7478 ICD9:150.8 ICD9:150.2 MEDGEN:107792 DOID:5041 OMIM:133239 ICD9:150.9 SCTID:187724003 ICD9:150.4 ICD9:150.3" - "Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." "XAO:0003166 Wikipedia:Appendicular_skeleton VSAO:0000076 MIAA:0000278 MAT:0000278 FMA:71222 EFO:0000951 AAO:0000747 NCIT:C49477 UMLS:C0222646 SCTID:322050006 MA:0000290 EMAPA:32729" + "Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." "Wikipedia:Appendicular_skeleton MIAA:0000278 VSAO:0000076 MAT:0000278 FMA:71222 EFO:0000951 AAO:0000747 NCIT:C49477 UMLS:C0222646 SCTID:322050006 MA:0000290 EMAPA:32729 XAO:0003166" "The amount of a oxidoreductase-like domain-containing protein 1 when measured in blood serum." "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "GARD:18338 MEDGEN:481656 Orphanet:280663 OMIM:614171 ICD10CM:E70.3 DOID:0060547 UMLS:C3280026" "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "NANDO:1200483 Orphanet:2020 DOID:0080102 UMLS:C0546264 GARD:6161 NANDO:2200868 NCIT:C120046 MEDGEN:108177" @@ -12123,7 +12123,7 @@ "10x 5' transcription profiling is the 10x-based single-cell technology that sequences mRNA molecules from their 5' end." "Quantification of phosphatidylcholine acyl-alkyl C44:6 measurement in a sample." "PMID:26068415" - "The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." "GAID:514 MA:0002067 UMLS:C0085427 MESH:D016909 NCIT:C12824 EMAPA:36530 SCTID:181351007" + "The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot." "GAID:514 MA:0002067 MESH:D016909 UMLS:C0085427 NCIT:C12824 EMAPA:36530 SCTID:181351007" "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." "MeSH:D010698 MedDRA:10034919 ICD9:300.2 ICD9:300.20 NCIT:C35420 SCTID:386810004 MEDGEN:83881 UMLS:C0349231 MESH:D010698 NCIt:C35420 MONDO:0003699 DOID:591 ICD10:F40 Wikipedia:Phobia" @@ -12264,7 +12264,7 @@ "Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion." "MeSH:D014842" "The amount of a catenin alpha-3 when measured in blood serum." - "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "SCTID:717731002 NCIT:C6381 DOID:4301 icd11.foundation:247568702 MEDGEN:234481 GARD:22006 Orphanet:494451 UMLS:C1336977" + "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "NCIT:C6381 DOID:4301 icd11.foundation:247568702 MEDGEN:234481 GARD:22006 Orphanet:494451 UMLS:C1336977 SCTID:717731002" "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "OMIM:144200 NCIT:C84693 GARD:2826 SCTID:399955009 Orphanet:2199 ICD9:757.39 DOID:0070552" "The amount of a myocyte-specific enhancer factor 2C when measured in blood serum." "The amount of a myosin light polypeptide 6 when measured in blood serum." @@ -12498,7 +12498,7 @@ "The determination of the amount of low-density lipoprotein receptor-related protein 8 in a sample" "PMID:28240269" "quantification of the amount of interferon gamma in a sample" - "Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." "EFO:0000966 ZFA:0001115 MA:0000004 galen:Trunk BTO:0001493 BILA:0000116 NCIT:C33816 CALOHA:TS-1071 XAO:0000054 SCTID:262225004 AAO:0010339 MIAA:0000296 Wikipedia:Torso XAO:0003025 FMA:7181 EMAPA:31857 TAO:0001115 MAT:0000296 UMLS:C0460005" + "Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present." "EFO:0000966 ZFA:0001115 MA:0000004 galen:Trunk BTO:0001493 BILA:0000116 NCIT:C33816 CALOHA:TS-1071 XAO:0000054 SCTID:262225004 AAO:0010339 MIAA:0000296 Wikipedia:Torso XAO:0003025 EMAPA:31857 FMA:7181 TAO:0001115 MAT:0000296 UMLS:C0460005" "OMIM:620748" @@ -12598,7 +12598,7 @@ "OMIM:614335" "The amount of a coronin-6 when measured in blood." "PMID:37794183" "An epithelial cell that is part of the lung epithelium. This cell is characterised by the presence of cilia on its apical surface." - "A disease that involves the ear." "ICD9:388.8 NCIT:C26757 SCTID:25906001 ICD9:388.9 MEDGEN:3946 UMLS:C0013447" + "A disease that involves the ear." "UMLS:C0013447 ICD9:388.8 NCIT:C26757 SCTID:25906001 ICD9:388.9 MEDGEN:3946" "A property of a single physical entity describing the entity's size or shape or structure." "NCIt:C17943 MeSH:D006653" "A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. [ NCI ]" "UMLS:C0015802 MedDRA:10016454 NCIt:C26774 ICD10:S72" @@ -13538,7 +13538,7 @@ "MEDGEN:98046 DOID:0060946 NANDO:1200215 OMIM:254090 UMLS:C0410179" "Any abnormality of the large intestine." "UMLS:C4025715" "NIH-3T3 cell line stably transfected with insulin receptor cDNA" "BTO:0004245 RRID:CVCL_L990" - "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 MA:0000255 GAID:869 EMAPA:17601 EV:0100359 VHOG:0001145 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" + "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 MA:0000255 GAID:869 EV:0100359 EMAPA:17601 VHOG:0001145 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" "SCTID:710010005 MEDGEN:873772 UMLS:C4040907 GARD:19677 Orphanet:99228" "Quantification of the amount of X-11786--methylcysteine in a sample." "PMID:24816252" "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "MESH:D018981 DOID:5212 SCTID:238049009 ICD9:271.8 GARD:10307 NCIT:C84615 UMLS:C0282577 MEDGEN:76469 Orphanet:137" @@ -13646,7 +13646,7 @@ "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." "UMLS:C4025649 UMLS:C3494187 SNOMEDCT_US:234440005" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "MEDGEN:766784 OMIM:614851 DOID:0070011 UMLS:C3553870 GARD:17469 Orphanet:319675" "Immortalized mouse embryonic stem cell line" - "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" "Quantification of the amount of X-21285 in a sample." "PMID:35347128" @@ -15005,7 +15005,7 @@ "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." "DOID:0070328 Orphanet:210159 GARD:6608 UMLS:C0279607 NCIT:C7956 MEDGEN:124633" "The amount of a ATPase inhibitor, mitochondrial when measured in blood." "PMID:37794183" "The amount of a N-alpha-acetyltransferase 20 when measured in blood serum." - "An acute or chronic inflammatory process affecting the biliary tract." "UMLS:C0008311 ICD9:576.1 MEDGEN:40258 NCIT:C26718 icd11.foundation:1712178777 MESH:D002761 ICD10CM:K83.0 DOID:9446 SCTID:82403002" + "An acute or chronic inflammatory process affecting the biliary tract." "UMLS:C0008311 ICD9:576.1 MEDGEN:40258 NCIT:C26718 icd11.foundation:1712178777 ICD10CM:K83.0 MESH:D002761 DOID:9446 SCTID:82403002" "OBSOLETE. Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "Orphanet:90970" "Quantification of the amount of malonylcarnitine in a sample." "PMID:35347128" @@ -15575,7 +15575,7 @@ "The amount of a far upstream element-binding protein 3 when measured in blood serum." "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 SNOMEDCT:398036000 UMLS:C0020445 NANDO:2200602 MedDRA:10054380 MEDGEN:5688 MONDO:0005439 OMIM:144010 SCTID:190773008 NCIT:C34704 MeSH:D006938 DOID:13810 OMIM:603776 OMIMPS:143890 ICD9:V19.8" "OMIM:614199 ICD10:N04" - "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4977 EHDAA:4985 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" + "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4985 EHDAA:4977 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" "The amount of a methylosome subunit pICln when measured in blood." "PMID:37794183" "The result of a measurement of circulating antibodies specific to a hepatitis A virus antigen." "PMID:37164013" "GARD:11009 Orphanet:280586 OMIM:614078 MEDGEN:481387 DOID:0112224 UMLS:C3279757" @@ -16037,7 +16037,7 @@ "OMIM:614592" "Midline deficiency of the mandible and some or all overlying tissues." "SNOMEDCT_US:92822004 UMLS:C0685786" "Any deviation from the normal range of the hormones produced by the thyroid gland." - "Inflammation of the oral mucosa due to local or systemic factors." "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 NCIT:C26887 UMLS:C0038362 MedDRA:10042128 SCTID:61170000 MONDO:0004842" + "Inflammation of the oral mucosa due to local or systemic factors." "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 UMLS:C0038362 NCIT:C26887 MedDRA:10042128 SCTID:61170000 MONDO:0004842" "An abnormally high level of uric acid." "MedDRA:10020907 HP:0002149" "The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" "NCIt:C81278 UMLS:C2825556" "The amount of a draxin when measured in blood serum." @@ -16241,7 +16241,7 @@ "MeSH:D020358 Beilstein:4289807 ChemIDplus:361-09-1 \"CAS Registry Number\" Beilstein:4289807 \"Beilstein Registry Number\" CAS:361-09-1" "A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." "UMLS:C0003872 MeSH:D015535 SCTID:156370009 ICD10:M07 MESH:D015535 NCIT:C61277 OMIM:607507 NCIt:C61277 ICD9:696.0 Orphanet:40050 DOID:9008 MONDO:0011849 icd11.foundation:868183264 MEDGEN:2077 MedDRA:10037160 NANDO:2201059" "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "MEDGEN:326741 icd11.foundation:780893571 Orphanet:898 MESH:C536075 ICD10CM:H35.5 SCTID:232064001 OMIM:143200 MedDRA:10063383 UMLS:C1840452 GARD:7871" - "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 HP:0001941 NCIt:C83504 SCTID:51387008 MEDGEN:1296" + "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 NCIt:C83504 HP:0001941 SCTID:51387008 MEDGEN:1296" "quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease, often used a predictor of all-cause mortality after ischemic stroke" "Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." "UMLS:C0035235 SNOMEDCT:55735004 MEDGEN:48424 MeSH:D018357 MONDO:0001577 DOID:1273 NCIt:C3354 MedDRA:10061603 SCTID:55735004 MESH:D018357 NCIT:C3354" "Combines in-cell probing of RNA structure with a measurement of gene expression to simultaneously characterize RNA structure and function in bacterial cells" "PMID:26350218" @@ -16963,7 +16963,7 @@ "GARD:4276 MEDGEN:400936 MESH:C536653 UMLS:C1866182 Orphanet:363665 OMIM:601812" "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." "MEDGEN:341331 SCTID:723442008 UMLS:C1848903 OMIM:273050 Orphanet:2972 GARD:5027" - "Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs." "EV:0100097 SCTID:302511008 MIAA:0000120 AAO:0010254 MAT:0000120 FMA:9704 galen:Ureter EFO:0000930 EHDAA2:0002139 UMLS:C0041951 MESH:D014513 XAO:0000144 EMAPA:17950 Wikipedia:Ureter CALOHA:TS-1084 MA:0000378 VHOG:0000605 EHDAA:9341 BTO:0001409 NCIT:C12416 GAID:438" + "Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs." "EV:0100097 SCTID:302511008 MIAA:0000120 AAO:0010254 MAT:0000120 FMA:9704 galen:Ureter EFO:0000930 EHDAA2:0002139 MESH:D014513 UMLS:C0041951 XAO:0000144 EMAPA:17950 Wikipedia:Ureter CALOHA:TS-1084 MA:0000378 VHOG:0000605 EHDAA:9341 BTO:0001409 NCIT:C12416 GAID:438" "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." "DOID:0050132 SCTID:95544006 UMLS:C0521604 MEDGEN:636702" "The amount of a polypeptide N-acetylgalactosaminyltransferase 9 when measured in blood serum." @@ -17129,7 +17129,7 @@ "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "MEDGEN:325070 DOID:0090025 Orphanet:1307 GARD:3252 NCIT:C75121 SCTID:722429003 OMIM:246560 MESH:C565437 UMLS:C1838652" "MEDGEN:235339 NCIT:C7070 UMLS:C1334811" - "The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." "galen:Elbow SCTID:76248009 EHDAA2:0000429 EHDAA:6212 CALOHA:TS-2222 MESH:D004550 Wikipedia:Elbow VHOG:0000340 GAID:54 EFO:0003069 MA:0000036 EHDAA:4166 FMA:24901 EMAPA:17414" + "The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]." "EMAPA:17414 galen:Elbow SCTID:76248009 EHDAA2:0000429 EHDAA:6212 CALOHA:TS-2222 MESH:D004550 Wikipedia:Elbow VHOG:0000340 GAID:54 EFO:0003069 MA:0000036 EHDAA:4166 FMA:24901" "GARD:16250 UMLS:C4540345 OMIM:617760 MEDGEN:1627492 DOID:0111221" "MeSH:D001412 NCIt:C86167 SNOMEDCT:83512007" @@ -17513,7 +17513,7 @@ "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." "ICD10:G24 UMLS:C4020871 UMLS:C0013421" "OMIM:106100 MeSH:D054179" "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5667 UMLS:C1334448 DOID:5265 MEDGEN:232711" - "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:20453882 PMID:22258322 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 Beilstein:3565084 CiteXplore:18271925 LINCS:LSM-2132" + "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:22258322 PMID:20453882 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 Beilstein:3565084 CiteXplore:18271925 LINCS:LSM-2132" "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "NCIt:C4333" "MEDGEN:1616061 UMLS:C4540293 OMIM:617744" "Quantification of Fc receptor-like protein 2 in a sample." "PMID:29875488" @@ -17613,7 +17613,7 @@ "A hydrate of nickel chloride containing nickel (in the +2 oxidation state), chloride and water moeities in the ratio 1:2:6." "PMID:11739495 Gmelin:10512 PMID:15191398 PMID:23821107 Reaxys:16506017 PMID:29079364 PMID:14734778 CAS:7791-20-0 PMID:22975724 PMID:22234432" "The term gait disturbance can refer to any disruption of the ability to walk." "UMLS:C0575081 SNOMEDCT_US:22325002" - "Area of uterine endometrium found between the implanted chorionic vesicle and the myometrium." "NCIT:C32426 UMLS:C0230965 SCTID:362841006 FMA:86477 BTO:0002819 EMAPA:35270 EFO:0001918 MA:0002905" + "Area of uterine endometrium found between the implanted chorionic vesicle and the myometrium." "NCIT:C32426 UMLS:C0230965 SCTID:362841006 FMA:86477 BTO:0002819 EFO:0001918 EMAPA:35270 MA:0002905" "The amount of a DNA repair protein RAD51 homolog 4 when measured in blood serum." "The amount of a endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase when measured in blood serum." "The amount of a glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic when measured in blood serum." @@ -22311,7 +22311,7 @@ "The quantification of phosphatidate levels in a sample, typically blood " "PMID:34503513" "The amount of a inositol monophosphatase 1 when measured in blood serum." "A peritoneum cancer that is located in the inside of the abdomen." "NCIT:C40022 UMLS:C3163804 SCTID:447781009 DOID:1791 MEDGEN:756216" - "An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." "GAID:288 ZFA:0000123 EFO:0000887 MAT:0000097 AAO:0010111 VHOG:0000257 MESH:D008099 EMAPA:16846 BTO:0000759 MIAA:0000097 UMLS:C0023884 XAO:0000133 EHDAA:2197 galen:Liver SCTID:181268008 EHDAA2:0000997 Wikipedia:Liver TAO:0000123 EV:0100089 CALOHA:TS-0564 FMA:7197 NCIT:C12392 MA:0000358" + "An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]." "GAID:288 ZFA:0000123 EFO:0000887 MAT:0000097 AAO:0010111 VHOG:0000257 MESH:D008099 EMAPA:16846 BTO:0000759 MIAA:0000097 UMLS:C0023884 XAO:0000133 EHDAA:2197 galen:Liver SCTID:181268008 EHDAA2:0000997 Wikipedia:Liver TAO:0000123 CALOHA:TS-0564 EV:0100089 FMA:7197 NCIT:C12392 MA:0000358" "The result of a measurement of circulating antibodies specific to an influenza B antigen." "PMID:37164013" "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life." "OMIM:144755" "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "UMLS:C4273829 MEDGEN:895207 Orphanet:250932 GARD:20686" @@ -22473,7 +22473,7 @@ "A day is a derived time unit which is equal to 24 hours." "SNOMEDCT:258703001 NCIt:C25301" - "Human esophagus adenocarcinoma cell line" "PMID:20075370 RRID:CVCL_JY35" + "Human esophagus adenocarcinoma cell line" "RRID:CVCL_JY35 PMID:20075370" "A aspergillosis that involves the lung." "SNOMEDCT:6042001 MedDRA:10059259 UMLS:C2350529 MESH:D055732 MEDGEN:390019 DOID:0050153 MONDO:0000266 MeSH:D055732" "The amount of a 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial when measured in blood serum." "A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a 1H-indol-3-yl group." "HMDB:HMDB0000197 DrugBank:DB07950 Beilstein:143358 PMID:13610897 MeSH:C030737 ChemIDplus:87-51-4 Gmelin:143197 Wikipedia:Indole-3-acetic_acid Reaxys:143358 KNApSAcK:C00000100 PMID:23545355 KEGG COMPOUND:C00954 KEGG:C00954 BPDB:1106 KEGG COMPOUND:87-51-4 PMID:24285754 PDBeChem:IAC CAS:87-51-4 SNOMEDCT:71532005 NIST Chemistry WebBook:87-51-4 ChEMBL:234915" @@ -22691,7 +22691,7 @@ "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD10:B07.0 EFO:1002023 NCIT:C26913 ICD9:078.12 MONDO:0001795 DOID:13775 UMLS:C0042548 ICD10CM:B07.0 MEDGEN:53003 COHD:137785" "A carcinoma that arises from epithelial cells of the penis" "MEDGEN:208877 UMLS:C0853105 DOID:3449 EFO:1000465 NCIT:C9061 SCTID:372106005 GARD:0009366 MONDO:0006360" - "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" + "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 NCIT:C38011 MEDGEN:46113 DOID:3127 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" "The most anterior region the brain including both the telencephalon and diencephalon." "NIFSTD:birnlex_1509 MFO:0002260 MA:0000170 ZFA:0000109 EMAPA:16895 EHDAA:3470 XAO:0000011 MAT:0000105 SAEL:43 TAO:0000109 FMA:61992 BTO:0000478" "immortal continuous human mammary epithelial cells" "PMID:3857588 CLO:0001137 RRID:CVCL_3040" @@ -23107,7 +23107,7 @@ "Inflammation of the parotid glands." "MEDGEN:45335 MeSH:D010309 SCTID:14756005 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" "Quantification of MIP18 family protein FAM96A in a sample." "PMID:29875488" "OMIM:128101 ICD10:G24.1" - "The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter." "TAO:0005285 UMLS:C0599297 ZFA:0005285 Wikipedia:Glomerular_basement_membrane EMAPA:28251 NCIT:C32683 MESH:D050533 SCTID:243897006 FMA:74274 MA:0001659 EMAPA:30965" + "The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter." "UMLS:C0599297 TAO:0005285 ZFA:0005285 Wikipedia:Glomerular_basement_membrane EMAPA:28251 NCIT:C32683 MESH:D050533 SCTID:243897006 FMA:74274 MA:0001659 EMAPA:30965" "The determination of the amount of ubiquitin-like protein ISG15 in a sample" "PMID:34814699" "Quantification of the amount of X-13477 in a sample." "PMID:24816252" @@ -23713,7 +23713,7 @@ "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." "MeSH:D007119" "The amount of a switch-associated protein 70 when measured in blood serum." - "Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." "FMA:59155 MESH:D001050 SCTID:399916008 EMAPA:37426 Wikipedia:Apocrine_sweat_gland BTO:0001458 UMLS:C0930083 NCIT:C32132" + "Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]." "FMA:59155 MESH:D001050 EMAPA:37426 SCTID:399916008 Wikipedia:Apocrine_sweat_gland BTO:0001458 UMLS:C0930083 NCIT:C32132" "a disease that occurs in the parathyroid" "DOID:11201 SCTID:73132005 MONDO:0001223 MEDGEN:893009 ICD9:252 NCIT:C26844 UMLS:C4025822 ICD9:252.8 ICD9:252.9 MESH:D010279" "The length of the cDNA read." @@ -24230,6 +24230,7 @@ "quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve" "A astrocytoma that involves the diencephalon." "MEDGEN:272542 NCIT:C5128 DOID:4855 UMLS:C1333284" + "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." "MESH:D000080364 icd11.foundation:1197219411 MESH:C537374 GARD:9824 UMLS:C1533060 MEDGEN:288551 SCTID:414783007" "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "ICD9:759.89 Orphanet:974 MESH:C538225 DOID:0060227 OMIMPS:100300 icd11.foundation:745972142 GARD:5739 MEDGEN:78544 NORD:731 UMLS:C0265268 SCTID:34748004" @@ -24516,7 +24517,7 @@ "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2." "NCIt:C80509 SNOMEDCT:387050005 Wikipedia:Prostaglandin-endoperoxide_synthase_2 SNOMEDCT:123954005" "Any retinopathy caused by a variant or variants in the PRPH2 gene." - "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "UMLS:C0015027 NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212" + "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212 UMLS:C0015027" "The determination of the amount of epiregulin in a sample" "PMID:28240269" @@ -28316,7 +28317,7 @@ "A sarcoidosis that involves the nervous system." "UMLS:C0393485 MEDGEN:97948 icd11.foundation:1479285656 MESH:C535814 SCTID:230193008" "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "MEDGEN:394424 GARD:10295 SCTID:723581006 UMLS:C2678045 MESH:C567475 DOID:0111931 OMIM:300707 Orphanet:140952" "A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." "SNOMEDCT:15845006 MedDRA:10066290 NCIt:C84604 OMIM:610446 MeSH:D054312 DOID:0050456 ICD10:A31.1" - "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html SCTID:93473009 EFO:1000707 NCIT:C8540 MONDO:0006557" + "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html EFO:1000707 SCTID:93473009 NCIT:C8540 MONDO:0006557" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "MONDO:0005175" "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 when measured in blood serum." @@ -28347,7 +28348,7 @@ "The amount of a C-X-C motif chemokine 2 when measured in blood serum." "A germinoma that arises from the pineal gland." "MEDGEN:208928 Orphanet:91352 UMLS:C0854912 DOID:7428 NCIT:C8712 GARD:19162" "Quantification of the amount of ras-related C3 botulinum toxin substrate 3 measurement in a sample." "PMID:36168886" - "Proctitis is an inflammation of the rectum." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" + "Proctitis is an inflammation of the rectum." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 NCIT:C38011 MEDGEN:46113 DOID:3127 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" "ICD10:Q98.8" "Abnormal rhythm of the heart." "UMLS:C0522055 SNOMEDCT_US:102594003" @@ -29501,7 +29502,7 @@ "Cellular accumulation of GM2 gangliosides." "UMLS:C1848920" "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "NCIT:C84482 MESH:D006343 UMLS:C0018816 SCTID:253273004 MEDGEN:6752 ICD9:745.8 ICD9:745.9 DOID:1681" "BTO:0001570 CLO:0007641 RRID:CVCL_0419 NCIt:C117224" - "Membrane organ that surrounds the brain and the spinal cord." "UMLS:C0025285 NLXANAT:090204 MA:0001113 BTO:0000144 ZFA:0001355 NCIT:C12348 MAT:0000113 Wikipedia:Meninx TAO:0001355 EMAPA:32660 EFO:0000867 GAID:687 VHOG:0001295 FMA:9589 CALOHA:TS-1177 MESH:D008578" + "Membrane organ that surrounds the brain and the spinal cord." "UMLS:C0025285 NLXANAT:090204 MA:0001113 BTO:0000144 ZFA:0001355 NCIT:C12348 MAT:0000113 Wikipedia:Meninx TAO:0001355 EMAPA:32660 EFO:0000867 GAID:687 FMA:9589 CALOHA:TS-1177 VHOG:0001295 MESH:D008578" "human pancreatic adenocarcinoma cell line derived from an ascites sample taken from a 66 year old Japanese male with a poorly differentiated pancreatic adenocarcinoma (Sigma catlaog number 93121055)" "CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm" @@ -29570,7 +29571,7 @@ "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." "OMIM:613828 OMIM:612279 OMIM:604403 OMIM:604233 OMIM:613863 ICD10:G40.3 OMIM:618482 OMIM:613060 OMIM:611277 OMIM:616172 OMIM:609800" "A drug dependence that is a psychological dependency on the regular use of cocaine." "MedDRA:10009818 NCIt:C34492 DOID:9975 ICD9:304.2 MedDRA:10009817 MedDRA:10009821 ICD10:F14 SCTID:31956009 ICD9:304.20 SNOMEDCT:31956009 MedDRA:10009819 NCIT:C34492 MEDGEN:154705 MedDRA:10009820 icd11.foundation:1691013484 MONDO:0005186 UMLS:C0600427" "A benign neoplasm that involves the pericardium." "NCIT:C8536 MEDGEN:151928 icd11.foundation:1296244385 SCTID:92289001 UMLS:C0685118" - "RRID:CVCL_0620 CLO:0007636 BTO:0001569" + "CLO:0007636 BTO:0001569 RRID:CVCL_0620" "A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." "NCIt:C7290" "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "NANDO:1200649 DOID:0080734 NCIT:C125700 MEDGEN:75672 MESH:C536198 GARD:22216 UMLS:C0268342 Orphanet:1900 OMIM:225400 SCTID:718211004 NANDO:2201259" @@ -32026,7 +32027,7 @@ "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." "OMIM:616006 GARD:16047 UMLS:C4014939 MEDGEN:863376" "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." - "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MEDGEN:21827 MESH:D014648 SCTID:128060009 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" + "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MEDGEN:21827 SCTID:128060009 MESH:D014648 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" "UMLS:C4540096 Orphanet:502423 OMIM:617675 MEDGEN:1620960 GARD:17934" "A germinal center B cell that is rapidly dividing and has the phenotype IgD-negative, CD38-positive, and CD77-positive. Somatic hypermutation of the immunoglobulin V gene region can occur during proliferation of this cell type." @@ -32306,7 +32307,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 GAID:188 EMAPA:19104 AAO:0000789 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 MESH:D014457 GAID:188 AAO:0000789 EMAPA:19104 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -32326,7 +32327,7 @@ "The determination of the amount of lymphocyte activation gene 3 protein in a sample" "PMID:28240269" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "MESH:D045825 MeSH:D045825 UMLS:C1258222 MEDGEN:263530 DOID:563 MONDO:0006925" "An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." "NCIt:C6416" - "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" + "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" "The amount of a C-type lectin domain family 10 member A when measured in blood." "PMID:37794183" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "MEDGEN:1647210 OMIMPS:208085 SCTID:720513002 DOID:0050763 MESH:C535382 Orphanet:2697 GARD:794 UMLS:C4551984" "A specialized examination or inspection meant to identifying an increased risk of neoplasm." @@ -33661,7 +33662,7 @@ "An immortalized cell line from hTERT-infected myometrial cells (hTERT-HM). Cells were isolated from myometrial tissue obtained from women undergoing hysterectomy, and retroviral infection was used to express the catalytic subunit of telomerase in myometrial cells." "PMID:12135889" "ML-DmBG3-c2 cells were made from the brain ventral ganglion of late L3 (y v f mal). Cloned from their parent line ML-DMBG3 in the Miyake lab." "PMID:21177962 PMID:25262759" "Quantification of the amount of CCL20 protein in a sample" "PMID:32641083" - "The ammonium salt of nitric acid." "Reaxys:13203931 MeSH:C006568 ChemIDplus:6484-52-2 \"CAS Registry Number\" Reaxys:13203931 \"Reaxys Registry Number\" Wikipedia:Ammonium_nitrate Wikipedia:Ammonium_nitrate \"Wikipedia\" CAS:6484-52-2" + "The ammonium salt of nitric acid." "Reaxys:13203931 ChemIDplus:6484-52-2 \"CAS Registry Number\" MeSH:C006568 Reaxys:13203931 \"Reaxys Registry Number\" Wikipedia:Ammonium_nitrate Wikipedia:Ammonium_nitrate \"Wikipedia\" CAS:6484-52-2" "Quantification of the amount of prolylglycine in a sample." "PMID:35347128" "A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus." "MONDO:0005730 MeSH:D004022 MESH:D004022 DOID:4754" "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." "OMIM:610738 DOID:0112133 icd11.foundation:421553273 UMLS:C5235141 Orphanet:99749 MEDGEN:1713491 GARD:302" @@ -34186,7 +34187,7 @@ "Single cell sequencing process using an approach where only a short fragment (tag) at a defined position in each RNA molecule is sequenced" "Quantification of cholesteryl esters to total lipids in medium VLDL." "\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\n" - "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 ICD10:A63 MEDGEN:20728" + "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 MEDGEN:20728 ICD10:A63" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "OMIM:145701 Orphanet:1023 MEDGEN:333542 GARD:8206 UMLS:C1840362 DOID:0111060" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." "UMLS:C0268517 ICD10:E72.8" @@ -34208,7 +34209,7 @@ "MedDRA:10068349 UMLS:C2363744 Orphanet:289644 GARD:21147 MEDGEN:797800" "OMIM:604571 ICD10:D81.6" - "A lymphoma that involves the retina." "MEDGEN:83291 DOID:774 SCTID:232075002 NCIT:C4365 UMLS:C0339556 ICD9:198.4" + "A lymphoma that involves the retina." "MEDGEN:83291 DOID:774 NCIT:C4365 SCTID:232075002 UMLS:C0339556 ICD9:198.4" "A alpha-beta intraepithelial T cell found in the columnar epithelium of the gastrointestinal tract. Intraepithelial T cells often have distinct developmental pathways and activation requirements." "Cardiac septum which separates the right ventricle from the left ventricle.[FMA]." "BTO:0002483 NCIT:C32874 MA:0000085 EHDAA:2603 EMAPA:17333 VHOG:0000386 UMLS:C0225870 Wikipedia:Interventricular_septum EFO:0001956 SCTID:362019005 galen:InterventricularSeptum FMA:7133" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." "MEDGEN:413981 UMLS:C2751319 GARD:16501 OMIM:613077 MESH:C567768 DOID:0111518" @@ -34461,7 +34462,7 @@ "Quantification of the amount of X-24728 in a sample." "PMID:35347128" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." - "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "RRID:CVCL_XF44 PMID:10594010" + "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "PMID:10594010 RRID:CVCL_XF44" "CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)" "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" @@ -34636,7 +34637,7 @@ "The amount of a TNFAIP3-interacting protein 1 when measured in blood serum." "Flag for Atlas experiment types" "Orphanet:477797" - "A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "The amount of a GRIP1-associated protein 1 when measured in blood serum." "Quantification of the amount of 3-methyladipate in a sample." "PMID:35347128" @@ -34787,7 +34788,7 @@ "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "GARD:17979 Orphanet:538963 MESH:C567815 NCIT:C126344 NANDO:2200734 UMLS:C3552634 DOID:0060707 OMIM:613011 MEDGEN:765548" "The amount of a CD2 molecule when measured in blood serum." - "Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." "ZFA:0000413 GAID:368 BTO:0000534 VHOG:0000397 XAO:0003146 BSA:0000079 HAO:0000379 MA:0002420 Wikipedia:Gonad BILA:0000123 TAO:0000413 FMA:18250 EMAPA:17383 NCIT:C12725 MESH:D006066 AAO:0000213 SCTID:304623008 UMLS:C0018067 WBbt:0005175" + "Reproductive organ that produces and releases eggs (ovary) or sperm (testis)." "GAID:368 ZFA:0000413 BTO:0000534 VHOG:0000397 XAO:0003146 BSA:0000079 HAO:0000379 MA:0002420 Wikipedia:Gonad BILA:0000123 TAO:0000413 FMA:18250 EMAPA:17383 NCIT:C12725 MESH:D006066 AAO:0000213 SCTID:304623008 UMLS:C0018067 WBbt:0005175" "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." "UMLS:C0020479 OMIM:617347 MEDGEN:9364 SCTID:398796005 Orphanet:412 GARD:6703 DOID:3145 MedDRA:10060751" "quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction" @@ -34908,7 +34909,7 @@ "Either of the two hollow convoluted lateral halves of the cerebrum." "BTO:0000231" "Quantification of N-linked transferrin glycans in a sample." "PMID:35332118" - "A layer of the ovarian follicle that consists of granulosa cells." "EFO:0003628 Wikipedia:Membrana_granulosa SCTID:258971005 FMA:18660 ZFA:0001112 TAO:0001112 EMAPA:35633 MA:0001460" + "A layer of the ovarian follicle that consists of granulosa cells." "EFO:0003628 Wikipedia:Membrana_granulosa SCTID:258971005 FMA:18660 ZFA:0001112 EMAPA:35633 TAO:0001112 MA:0001460" "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "UMLS:C0280334 NCIT:C8193 GARD:17927 MEDGEN:79105 Orphanet:500464" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." "MEDGEN:355700 OMIM:601744 UMLS:C1866373" "The small cell carcinoma DMS 454 was isolated in 1981 from lung tissue of a male patient at time of autopsy. (Sigma-Aldrich catalog number 95062832)" @@ -35015,7 +35016,7 @@ "The amount of a doublecortin domain-containing protein 2C when measured in blood." "PMID:37794183" "The determination of the amount of somatostatin-28 in a sample" "PMID:28240269" "quantification of the progression of lesions in white matter of the brain using magnetic resonance imaging" - "A malignant neoplasm involving the auditory system" "NCIT:C3000 MESH:D004428 DOID:833" + "A malignant neoplasm involving the auditory system" "NCIT:C3000 DOID:833 MESH:D004428" "Virus diseases caused by the arenaviridae." "MESH:D001117 ICD9:078.89 DOID:3944 MeSH:D001117 SCTID:3303004 MONDO:0005650" "The amount of a cysteine--tRNA ligase, cytoplasmic when measured in blood serum." @@ -35318,7 +35319,7 @@ "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "DC:0000445 ICD10:M11.2 GARD:0010877 MedDRA:10059364 Orphanet:53715" "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." "SNOMEDCT_US:270492004 UMLS:C0085614" "An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." "SCTID:31712002 NANDO:1200439 ICD9:571.6 NCIT:C27167 MEDGEN:3035 UMLS:C0008312 GARD:7459 Orphanet:186 DOID:12236 SNOMEDCT:31712002 MedDRA:10019137 ICD10:K74.3 OMIMPS:109720 NCIt:C27167 MESH:D008105 MONDO:0005388 NORD:1604 MedDRA:10004661 icd11.foundation:649193479 MedDRA:10036680" - "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" + "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 ZFA:0001287 GAID:433 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." "OMIM:618093" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." @@ -35601,7 +35602,7 @@ "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "ICD10:D76.3 OMIM:602782" "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "UMLS:C1866656 OMIM:184460 MEDGEN:357104 GARD:12631 Orphanet:140917 icd11.foundation:387089262 SCTID:719305006" "UMLS:C1854467 OMIM:605280 MeSH:C537485 ICD10:G11.4" - "DrugBank:DB00800 KEGG:D07946 Patent:DE2751258 Patent:DE2751258 \"Patent\" DrugBank:DB00800 \"DrugBank\" Wikipedia:Fenoldopam SNOMEDCT:409138007 Patent:US4197297 Patent:US4197297 \"Patent\" Drug_Central:1153 KEGG COMPOUND:C07693 \"KEGG COMPOUND\" Wikipedia:Fenoldopam \"Wikipedia\" LINCS:LSM-1609 KEGG:C07693 MeSH:D018818 SNOMEDCT:108590002 NCIt:C61759 CAS:67227-56-9 ChemIDplus:67227-56-9 \"CAS Registry Number\"" + "ChemIDplus:67227-56-9 \"CAS Registry Number\" DrugBank:DB00800 KEGG:D07946 Patent:DE2751258 Patent:DE2751258 \"Patent\" DrugBank:DB00800 \"DrugBank\" Wikipedia:Fenoldopam Patent:US4197297 Patent:US4197297 \"Patent\" Drug_Central:1153 SNOMEDCT:409138007 KEGG COMPOUND:C07693 \"KEGG COMPOUND\" Wikipedia:Fenoldopam \"Wikipedia\" LINCS:LSM-1609 KEGG:C07693 MeSH:D018818 SNOMEDCT:108590002 NCIt:C61759 CAS:67227-56-9" "MeSH:D017902" "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "UMLS:C1833676 GARD:4189 Orphanet:1952 MEDGEN:331566 icd11.foundation:519938437 SCTID:722127006 OMIM:167220 MESH:C538095" @@ -35743,7 +35744,7 @@ "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 Beilstein:3648446 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." "NCIt:C88214 MO:43 NCIt:C48151" "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." "EHDAA:5567 Wikipedia:Geniculate_ganglion EHDAA:6644 NCIT:C12721 EHDAA2:0004623 FMA:53414 GAID:718 EFO:0003669 MA:0001076 SCTID:279076005 BAMS:GgVII ZFA:0001291 EHDAA2:0000491 MESH:D005830 TAO:0001291 EMAPA:17569 VHOG:0000707 neuronames:1535 UMLS:C0017406" - "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" + "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" "Quantification of cholesteryl ester 24:1 in a sample." "PMID:35668104" "Quantification of the amount of X-10346 in a sample." "PMID:24816252" @@ -36468,7 +36469,7 @@ "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "OMIM:613873 UMLS:C3151264 DOID:0110323 MEDGEN:462614" "Quantification of the change in low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." "PMID:34610981" - "Bacterial diseases transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 ICD10:A63 MEDGEN:20728" + "Bacterial diseases transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 MEDGEN:20728 ICD10:A63" "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 5 double bonds." "PMID:19347970" "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "ICD9:350.1 icd11.foundation:1803581281 MedDRA:10044652 NORD:1791 ICD10:G50.0 MEDGEN:21683 MeSH:D014277 Orphanet:221091 MONDO:0008599 UMLS:C0040997 DOID:12098 GARD:7805 SNOMEDCT:31681005 OMIM:190400 MESH:D014277 SCTID:31681005 ICD10CM:G50.0" "Quantification of peptidyl-prolyl cis-trans isomerase-like 2 in a sample." "PMID:29875488" @@ -37544,7 +37545,7 @@ "A triglyceride in which the three acyl groups contain a total of 50 carbons and 5 double bonds." "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "SCTID:732264002 UMLS:C4517377 OMIM:615643 MEDGEN:1387791 GARD:12571 Orphanet:397725 DOID:0110740" - "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI BTO:0004355 PBA:128012080 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" + "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI PBA:128012080 BTO:0004355 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" "OMIM:618821 UMLS:C5394173 MEDGEN:1720321" "Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell." "GO:0010960" "Members of the class of nitrophenol carrying two nitro substituents." "CAS:25550-58-7" @@ -38059,7 +38060,7 @@ "Quantification of interleukin-1 receptor antagonist protein in a sample." "PMID:29875488" "NCIt:C73970" - "A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." "icd11.foundation:535283437 NCIt:C3285 SCTID:4210003 MedDRA:10030043 MESH:D009798 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" + "A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma." "icd11.foundation:535283437 NCIt:C3285 SCTID:4210003 MESH:D009798 MedDRA:10030043 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" "RNA hybrid and individual-nucleotide resolution ultraviolet crosslinking and immunoprecipitation (hiCLIP)" "PMID:25799984" "OMIM:615139" @@ -38425,7 +38426,7 @@ "Electrocardiography measurement of the duration from the end of the T wave to the start of the P wave." "PMID:32602732" "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." "NCIT:C128805 MEDGEN:1631685 UMLS:C4551985 OMIM:208000" "Quantification of versican core protein in a sample." "PMID:29875488" - "The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia." "GAID:676 FMA:224850 MESH:D017397 BTO:0002807 BAMS:FrA EMAPA:35356 MA:0000906 Wikipedia:Prefrontal_cortex neuronames:1072 DHBA:10172 EFO:0001384 NLXANAT:090801" + "The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia." "GAID:676 MESH:D017397 FMA:224850 BTO:0002807 BAMS:FrA EMAPA:35356 MA:0000906 Wikipedia:Prefrontal_cortex neuronames:1072 DHBA:10172 EFO:0001384 NLXANAT:090801" "The amount of a cytohesin-4 when measured in blood serum." "SNOMEDCT:419489007 MeSH:D019617" "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "UMLS:C0029438 MedDRA:10071283 ICD10:M89.5 OMIM:123880" @@ -38644,7 +38645,7 @@ "A phagocytic syncytial cell formed by the fusion of macrophages, occurs in chronic inflammatory responses to persistent microorganism such as M.tuberculosis, component of granulomas. Sometimes used to refer to megakaryocytes." "FMA:83035 MESH:D015726 BTO:0003107" "Quantification of melleolide M in blood plasma." "HMDB:0035068" - "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." "Wikipedia:Cesium_chloride \"Wikipedia\" MeSH:C028019 PMID:698485 CiteXplore:11058836 \"PubMed citation\" ChemIDplus:7647-17-8 \"CAS Registry Number\" Reaxys:3534981 \"Reaxys Registry Number\" Reaxys:3534981 CiteXplore:698485 \"PubMed citation\" CAS:7647-17-8 Wikipedia:Cesium_chloride PMID:11058836 NIST Chemistry WebBook:7647-17-8 \"CAS Registry Number\"" + "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." "Wikipedia:Cesium_chloride \"Wikipedia\" PMID:698485 MeSH:C028019 CiteXplore:11058836 \"PubMed citation\" ChemIDplus:7647-17-8 \"CAS Registry Number\" Reaxys:3534981 \"Reaxys Registry Number\" Reaxys:3534981 CiteXplore:698485 \"PubMed citation\" CAS:7647-17-8 Wikipedia:Cesium_chloride PMID:11058836 NIST Chemistry WebBook:7647-17-8 \"CAS Registry Number\"" "A 1,2-di-octadecadienoyl-sn-glycero-3-phosphocholine in which the double bonds in each fatty acyl group are at positions 9 and 12 and have Z configuration." "CAS:998-06-1 PMID:25083573 PMID:25308534 LIPID_MAPS_instance:LMGP01010937 HMDB:HMDB0008138 PMID:14561471 PMID:25063276 Reaxys:5212188 PMID:20336709 PMID:24121081 PDBeChem:DLP" "A surgical procedure in which one or both kidneys from a donor are implanted into a recipient." "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "ICD10:H11.15 MedDRA:10035060 SNOMEDCT:87614000 MONDO:0001179 ICD9:372.51 DOID:11029 SCTID:87614000 MeSH:D059407 MESH:D059407 UMLS:C0152255 MEDGEN:56273" @@ -41191,7 +41192,7 @@ "The amount of a endonuclease 8-like 2 when measured in blood serum." "UMLS:C2750784 OMIM:613206 ICD10:G11.4" "CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" - "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "MONDO:0002515 NCIT:C3959 MedDRA:10062000 UMLS:C0267792 MEDGEN:82758 DOID:3118" + "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "NCIT:C3959 MedDRA:10062000 UMLS:C0267792 MEDGEN:82758 DOID:3118 MONDO:0002515" "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." "ONCOTREE:SSRCC UMLS:C1335965 MEDGEN:234782 DOID:8025 MONDO:0006409 NCIT:C5250 EFO:1000524" "Quantification of bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 in a sample." "PMID:29875488" "CLO:0003630 RRID:CVCL_1245" @@ -41445,7 +41446,7 @@ "Human salivary gland adenoid cystic carcinoma cell line" "RRID:CVCL_H590" "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." "NCIt:C50910 SNOMEDCT:312894000 SNOMEDCT:78441005 SNOMEDCT_US:312894000 SNOMEDCT_US:78441005 UMLS:C0029453 UMLS:C0747078" - "An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid." "EHDAA:936 BIRNLEX:1169 UMLS:C1280202 SCTID:181143004 BTO:0004688 EMAPA:16198 VHOG:0000275 ZFA:0000107 XAO:0000179 MA:0000261 AAO:0010340 TAO:0000107 UMLS:C0015392 NCIT:C12401 EHDAA2:0000484 FMA:54448" + "An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid." "EHDAA:936 BIRNLEX:1169 UMLS:C1280202 SCTID:181143004 BTO:0004688 EMAPA:16198 VHOG:0000275 XAO:0000179 ZFA:0000107 MA:0000261 AAO:0010340 TAO:0000107 UMLS:C0015392 NCIT:C12401 EHDAA2:0000484 FMA:54448" "The amount of a inhibitor of nuclear factor kappa-B kinase subunit beta when measured in blood serum." "A unit which represents a standard measurement of how much of a given substance there is mixed with another substance." "MO:86 MO:61" "A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." "SNOMEDCT:21086008 DOID:2962 NCIt:C9460 MeSH:D003057" @@ -41584,7 +41585,7 @@ "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." "PMID:29875488" "icd11.foundation:946446904 Orphanet:79219 MEDGEN:1843271 GARD:18979 UMLS:C5681275" "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." "UMLS:C4023007" - "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 FMA:53074 galen:Orbit Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" + "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 galen:Orbit FMA:53074 Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" "OMIM:619177 DOID:0112273 MEDGEN:1780365 UMLS:C5543033" "MEDGEN:1684867 UMLS:C5231400 OMIM:618009 GARD:18514" @@ -44443,7 +44444,7 @@ "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." "UMLS:C0432201 MeSH:C536573 ICD10:Q87.1 OMIM:112310" "The amount of a lysyl oxidase homolog 3 when measured in blood serum." - "The inflammation of a vertebra." "MESH:D013166 UMLS:C0038012 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779 MEDGEN:11560" + "The inflammation of a vertebra." "UMLS:C0038012 MESH:D013166 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779 MEDGEN:11560" "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." "MeSH:D052476" "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." "MedDRA:10071755 OMIM:186580 OMIM:609464" @@ -44584,7 +44585,7 @@ "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "NCIT:C75469 OMIM:182290 MEDGEN:162881 DECIPHER:8 ICD9:758.33 GARD:8197 NANDO:2200954 NANDO:1200687 DOID:0060768 icd11.foundation:989025532 MESH:D058496 UMLS:C0795864 NORD:1725 SCTID:401315004 Orphanet:819" "Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia)." "MeSH:D029503 OMIM:105650" "The amount of a SH3 domain-containing kinase-binding protein 1 when measured in blood serum." - "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 XAO:0000218 MESH:D005121 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003" + "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 MIAA:0000023 HAO:0000144 AEO:0000193 BILA:0000018 MAT:0000023 CARO:0010003" "A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group." "PMID:27102241 FooDB:FDB029987 PMID:26899568 PMID:11693915 PMID:23904092 PMID:25644343 PMID:26471074 PMID:19157126 PMID:21676405 PMID:24947504 AGR:IND601125916 PMID:24949277 PMID:27689343 Reaxys:2110370 PMID:23982107 PMID:25809126 KNApSAcK:C00040946 PMID:17469871 PMID:25261518 PMID:11368919 CAS:1135-23-5" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "MedDRA:10009102 MONDO:0005593 ICD9:523.40 SCTID:5689008 ICD9:523.4 OMIM:260950 ICD10CM:K05.3 NCIt:C35326 OMIM:170650 icd11.foundation:1242548497 MeSH:D055113 MESH:D055113 SNOMEDCT:5689008 NCIT:C35326" @@ -44863,7 +44864,7 @@ "DOID:0112168 GARD:18155 UMLS:C5394499 OMIM:618915 MEDGEN:1709284" "The amount of a E3 ubiquitin-protein ligase NRDP1 when measured in blood serum." "NCIt:C17275 MeSH:D019703" - "A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "The determination of the amount of tyrosine-protein kinase CSK in a sample" "PMID:28240269" "The result of a measurement of circulating antibodies specific to a calicivirus antigen." "PMID:37164013" "Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus." @@ -45913,7 +45914,7 @@ "A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath." "NCIT:C96299 Wikipedia:Tendon_sheath FMA:45087 UMLS:C0224856 BTO:0000051 SCTID:361885006 FMA:76715" "Quantification of the amount of N-acetylhistidine in a sample." "PMID:35347128" - "Embryonic structure that develops into pancreatic bud." "FMA:79792 EHDAA2:0001382 EFO:0003434 EHDAA:2163 EFO:0002579 TAO:0000254 EMAPA:17066 XAO:0001101 ZFA:0000254" + "Embryonic structure that develops into pancreatic bud." "ZFA:0000254 FMA:79792 EHDAA2:0001382 EFO:0003434 EHDAA:2163 EFO:0002579 TAO:0000254 EMAPA:17066 XAO:0001101" "Myocarditis that is caused by an infection with a viral agent." "UMLS:C0276138 icd11.foundation:231270764 MEDGEN:547112 SCTID:89141000 NCIT:C128381" "Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." "icd11.foundation:1395124674 MESH:D010485 MONDO:0004508 DOID:823 UMLS:C0031030 MedDRA:10076250 MEDGEN:45396 MeSH:D010485 SCTID:39273001" "An Crohn disease involving a pathogenic inflammatory response in the esophagus." "UMLS:C0341116 MEDGEN:574175" @@ -46330,7 +46331,7 @@ "A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified." "The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." - "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 galen:Kidney MIAA:0000119 XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" + "A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization." "BTO:0000671 UMLS:C0022646 MIAA:0000119 galen:Kidney XAO:0003267 MESH:D007668 CALOHA:TS-0510 Wikipedia:Kidney GAID:423 MAT:0000119 AAO:0000250" "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "UMLS:C1333799 MESH:C535650 MEDGEN:232237 Orphanet:100092 NCIT:C27721 GARD:2437" "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 MEDGEN:1317 icd11.foundation:1180710837 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" @@ -46935,7 +46936,7 @@ "A partial dislocation of a joint." "Quantification of NAD kinase in a sample." "PMID:29875488" "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." "Reaxys:3903940 MetaCyc:CPD-7619 Beilstein:3903940 Gmelin:327115 CAS:7563-37-3 PMID:16141384" - "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" "The amount of a beta-defensin 103 when measured in blood serum." "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "UMLS:C0596773 ICD9:323.4 MESH:D000069544 SCTID:312215006 ICD9:049.8 MEDGEN:108917 NCIT:C79550" @@ -47083,7 +47084,7 @@ "Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid." "Wikipedia:Plastid SNOMEDCT:68008002" "The amount of a annexin A3 when measured in blood serum." "Quantification of the amount of Indole-5-carboxylic acid in a sample." "PMID:33634981" - "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" + "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" "CXXC affinity purification plus deep sequencing (CAP-seq)" "PMID:20885785" "The amount of a short/branched chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." "OMIMPS:256550" @@ -47466,7 +47467,7 @@ "human stomach carcinoma cell line from a 48 year old male" - "Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378]" "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 NCIT:C26887 UMLS:C0038362 MedDRA:10042128 SCTID:61170000 MONDO:0004842" + "Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378]" "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 UMLS:C0038362 NCIT:C26887 MedDRA:10042128 SCTID:61170000 MONDO:0004842" "The amount of a protein LZIC when measured in blood serum." "ICD10:Q99.8" @@ -47641,7 +47642,7 @@ "The amount of a centriolar satellite-associated tubulin polyglutamylase complex regulator 1 when measured in blood serum." "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "MeSH:D050090 OMIM:617480 UMLS:C2748895 ICD10:Q56.0 OMIM:400045" - "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 HP:0001941 NCIt:C83504 SCTID:51387008 MEDGEN:1296" + "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 NCIt:C83504 HP:0001941 SCTID:51387008 MEDGEN:1296" "The amount of a attractin when measured in blood." "PMID:37794183" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with salmeterol, a beta-adrenergic agonist used in the treatment of respiratory diseases" "OMIM:617527 OMIM:251280 ICD10:Q02" @@ -47939,7 +47940,7 @@ "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." "UMLS:C4280642 UMLS:C4082243 UMLS:C4280641 UMLS:C0240310 UMLS:C4280643 UMLS:C4280640" "Quantification of the amount of 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) in a sample." "PMID:35347128" "Mouse embryonic stem cell" "RRID:CVCL_7264" - "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "ICDO:9053/3 NCIT:C4282 DOID:4486 MEDGEN:137775 UMLS:C0334515 EFO:1000124 MONDO:0006109" + "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "ICDO:9053/3 NCIT:C4282 DOID:4486 UMLS:C0334515 MEDGEN:137775 EFO:1000124 MONDO:0006109" "The amount of a dual specificity protein phosphatase 10 when measured in blood." "PMID:37794183" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "MEDGEN:343643 MESH:C565058 OMIM:130600 GARD:15064 UMLS:C1851741" @@ -48415,7 +48416,7 @@ "A DiHOME obtained by formal dihydroxylation of the 12,13-double bond of octadeca-9,12-dienoic acid (the 9Z-geoisomer)." "HMDB:HMDB0004705 Reaxys:1973358 LIPID_MAPS_instance:LMFA02000230 KEGG:C14829" "The amount of a LIM and SH3 domain protein 1 when measured in blood serum." "FBbt:00005625" - "A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane." "VHOG:0000016 EHDAA2:0000487 Wikipedia:Eyelid EMAPA:17829 BTO:0002241 GAID:72 NCIT:C12713 MESH:D005143 FMA:54437 MA:0000268 EHDAA:9037 UMLS:C0015426 EV:0100338 SCTID:265782007" + "A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane." "VHOG:0000016 EHDAA2:0000487 Wikipedia:Eyelid EMAPA:17829 BTO:0002241 GAID:72 NCIT:C12713 MESH:D005143 FMA:54437 MA:0000268 EHDAA:9037 UMLS:C0015426 SCTID:265782007 EV:0100338" "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "OMIM:615537 GARD:17079 UMLS:C0406811 SCTID:239133004 Orphanet:178307 DOID:0060258 MESH:C562924 MEDGEN:98363 ICD9:709.09" "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "Orphanet:238505 NANDO:2200735" @@ -49145,7 +49146,7 @@ "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "MEDGEN:331297 DOID:0110543 OMIM:601317 GARD:18104 MESH:C563353 UMLS:C1832475" "A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2." "Reaxys:9025730 HMDB:HMDB0061701 LIPID_MAPS_instance:LMGP01050082" - "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon MA:0001541 CALOHA:TS-0057 EMAPA:35151 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" + "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon CALOHA:TS-0057 EMAPA:35151 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." "MedDRA:10026667 ONCOTREE:MPNST NCIt:C3798 MONDO:0017827 ICDO:9540/3 MeSH:D018317 icd11.foundation:71413945 DOID:5940 MEDGEN:155614 MedDRA:10029236 GARD:10872 SNOMEDCT:19897006 ICD9:171.9 MeSH:D018319 SNOMEDCT:404037002 NCIT:C3798 NANDO:2200102 ICDO:9560/3 UMLS:C0751690 Orphanet:3148 SCTID:404037002" "Quantification of tropomodulin-1 in a sample." "PMID:29875488" @@ -49361,7 +49362,7 @@ "The amount of a translin-associated protein X when measured in blood." "PMID:37794183" "The amount of a fibroblast growth factor-binding protein 1 when measured in blood serum." - "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." "MONDO:0006405 NCIT:C35703 MEDGEN:234786 EFO:1000519 UMLS:C1335982" + "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." "MONDO:0006405 MEDGEN:234786 NCIT:C35703 EFO:1000519 UMLS:C1335982" "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." "GARD:1030 SCTID:418818005 MESH:D053840 OMIMPS:601144 MedDRA:10059027 ICD9:746.89 MEDGEN:222975 UMLS:C1142166 NCIT:C142891 NORD:878 DOID:0050451 Orphanet:130 icd11.foundation:1250136584" "ICD10:G12.2" "OMIM:149700 MEDGEN:332018 UMLS:C1835612 MESH:C566703 Orphanet:451612 GARD:17784" @@ -49463,7 +49464,7 @@ "CAS:41205-06-5 KEGG:C14308 MeSH:D008726 NCIt:C50378 Beilstein:1913191 VSDB:1457 PPDB:1457 KEGG:D08200 CAS:40596-69-8" "A disease that has its basis in the disruption of intestinal motility." "MEDGEN:586448 UMLS:C0400865" - "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 EMAPA:35754 SCTID:361697005" + "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 SCTID:361697005 EMAPA:35754" "The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe." "MeSH:D020547 NIFSTD:birnlex_1263 BTO:0000879 NCIt:C12834" "A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine." "SCTID:176770005 ZFA:0009260 FMA:68653" @@ -50308,7 +50309,7 @@ "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." "GARD:16450 OMIM:158350" "Quantification of protein eva-1 homolog C in a sample." "PMID:29875488" "An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm." "NCIt:C12865 SNOMEDCT:45709008 FMA:66772 ZFA:0009065 CALOHA:TS-0278 BTO:0001176" - "A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans)." "XAO:0003032 AAO:0011126 MA:0000690 MIAA:0000285 NCIT:C40186 FMA:85518 SCTID:361367007 VHOG:0000944 MAT:0000285 EFO:0000881 EMAPA:32725 Wikipedia:Digit_(anatomy) galen:Digit UMLS:C0582802" + "A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans)." "UMLS:C0582802 XAO:0003032 AAO:0011126 MA:0000690 MIAA:0000285 NCIT:C40186 FMA:85518 SCTID:361367007 VHOG:0000944 MAT:0000285 EFO:0000881 EMAPA:32725 Wikipedia:Digit_(anatomy) galen:Digit" "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." "HP:0002836 GARD:6398 SCTID:61758007 MEDGEN:2661 Orphanet:93930 UMLS:C0005689 NORD:860 DOID:0080174 MESH:D001746 NCIT:C123207 ICD9:753.5 icd11.foundation:1927556258" "clinical manifestation that occurs as a result of a surgical intervention" "Narrowing of the left atrioventricular mitral orifice." "UMLS:C0026269 MedDRA:10027733 NANDO:1200963 MeSH:D008946 DOID:1754 SCTID:79619009 icd11.foundation:2115139779 MESH:D008946 NANDO:2200302 MONDO:0005852 MEDGEN:44466 NCIT:C50654" @@ -51028,7 +51029,7 @@ "quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" "Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \"Chromosome Conformation Capture\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." "Quantification of the amount of tumor necrosis factor receptor superfamily member 10B measurement in a sample." "PMID:36168886" - "Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree)." "Wikipedia:Biliary_system SCTID:361354009 GAID:279 FMA:79646 NCIT:C12678 MESH:D001659 MA:0001273" + "Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree)." "Wikipedia:Biliary_system SCTID:361354009 GAID:279 NCIT:C12678 FMA:79646 MESH:D001659 MA:0001273" "Quantification of the amount of guaiacol sulfate in a sample." "PMID:35347128" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." "The amount of a transforming acidic coiled-coil-containing protein 3 when measured in blood serum." @@ -51392,7 +51393,7 @@ "Increased volume and globular shape of the anteroinferior aspect of the nose." "UMLS:C1834118 UMLS:C1855751 UMLS:C0240543" "An L-alpha-amino acid that is the L-isomer of arginine." "PMID:22439203 MetaCyc:ARG CAS:74-79-3 PMID:12812828 PMID:16416365 PMID:8070089 PMID:22428068 Reaxys:1725413 PMID:22251130 PMID:15016745 Gmelin:83283 HMDB:HMDB0000517 PMID:22619480 DrugBank:DB00125 KEGG:C00062 PMID:22667467 PMID:22425811 KEGG:D02982 PMID:17168727 PMID:11898853 PMID:22179117 ChemIDplus:74-79-3 PMID:22361732 PMID:11139824 Drug_Central:1549 PMID:22626826 Wikipedia:L-arginine PMID:22652429 PMID:22553931 KNApSAcK:C00001340 KEGG COMPOUND:C00062 Beilstein:1725413 PMID:15465805 PMID:19030957 PMID:17439666 PDBeChem:ARG PMID:22243793 ECMDB:ECMDB00517 PMID:11300497 PMID:21600268 PMID:22709481 PMID:21814794 PDBeChem:GND PMID:10848923 PMID:16056256 YMDB:YMDB00592" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "GARD:18559 OMIM:614485 UMLS:C3280974 MEDGEN:482604" - "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "MA:0001453 FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 ZFA:0001066 Wikipedia:Vertebral_arch AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670" + "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "MA:0001453 FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 Wikipedia:Vertebral_arch ZFA:0001066 AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670" "quantification of the amount of beta-nerve growth factor in a sample" "An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." "SNOMEDCT:21139007 NCIt:C92453 MO:177" @@ -52433,7 +52434,7 @@ "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "OMIM:212835 MESH:C535350 Orphanet:1174 GARD:1189 UMLS:C1859306 MEDGEN:347850 SCTID:715371006" "A colorectal adenoma which develops independently more than six months after the removal of a previous colorectal adenoma." - "UMLS:C0271847 SCTID:19034001 ICD9:588.81 MEDGEN:543606 ICD10CM:N25.81 DOID:12465 icd11.foundation:610229783" + "SCTID:19034001 ICD9:588.81 MEDGEN:543606 ICD10CM:N25.81 DOID:12465 icd11.foundation:610229783 UMLS:C0271847" "mouse embryo stage at age 14.5 days" "A quantification of some aspect of the enlargement of the ventricles of the brain." "PMID:31711042" "SNOMEDCT:5249008 MeSH:D012549" @@ -52478,7 +52479,7 @@ "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means." "KEGG:C06708 MeSH:D015262 Wikipedia:Xenobiotic" "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "UMLS:C0271051 MEDGEN:75732 NCIT:C35468 DOID:4449 SCTID:37231002" - "A disease that involves the nerve plexus." "NCIT:C27744 DOID:3688 UMLS:C0270891 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" + "A disease that involves the nerve plexus." "NCIT:C27744 UMLS:C0270891 DOID:3688 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" "A method that uses DNA-tagged antibodies to quantify proteins in single cells." "A disease that involving errors in metabolic processes." "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "UMLS:C4748120 MEDGEN:1648308 OMIM:618087" @@ -52598,7 +52599,7 @@ "A disease involving the spleen." "MeSH:D013158 ICD9:289.50 MONDO:0002332 ICD10:D73 DOID:2529 MEDGEN:21291 ICD10CM:D73 SCTID:51244008 MESH:D013158 UMLS:C0037997 NCIT:C35823" "A quality inhering in a bearer by virtue of the bearer's deviation from normal or average." "NCIt:C25401 SNOMEDCT:263654008" - "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219 EFO:1000266" + "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "EFO:1000266 DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219" "A malignant neoplasm involving the respiratory system" "ICD9:165.9 SCTID:449096009 MEDGEN:756863 ICD9:165.8 DOID:0050615 UMLS:C3164456" "The amount of a autophagy protein 5 when measured in blood serum." @@ -52859,7 +52860,7 @@ "Quantification of BRISC complex subunit Abro1 in a sample." "PMID:29875488" "Recurrent episodes of over-eating." "icd11.foundation:1673294767 SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cancer involving a oculomotor nerve." "NCIT:C6995 SCTID:93929003 DOID:2816 MEDGEN:195786 UMLS:C0686417" - "A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." "ZFA:0000124 TAO:0000124 NCIT:C34277 EMAPA:16847 EHDAA2:0000744 BTO:0003391 AAO:0011058 XAO:0003266 EFO:0002577 UMLS:C1514451 EHDAA:973 UMLS:C0734013 EFO:0003428" + "A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum." "ZFA:0000124 TAO:0000124 EMAPA:16847 NCIT:C34277 EHDAA2:0000744 AAO:0011058 BTO:0003391 XAO:0003266 EFO:0002577 UMLS:C1514451 EHDAA:973 UMLS:C0734013 EFO:0003428" "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "DOID:0050463 icd11.foundation:913761638 ICD9:733.29 UMLS:C1861922 SCTID:74928006 OMIM:114290 NORD:884 MEDGEN:354620 GARD:10027 Orphanet:140 MESH:D055036 NCIT:C84609" "OMIM:300537 ICD10:Q79.6" "GARD:18537 OMIM:619125 UMLS:C5436856 MEDGEN:1725501" @@ -53256,7 +53257,7 @@ "A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative." "The amount of a photoreceptor cilium actin regulator when measured in blood." "PMID:37794183" "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." "NCIT:C27031 MEDGEN:1848937 MONDO:0005815 Orphanet:506052 icd11.foundation:1421495979 DOID:1799 SCTID:254611009 MeSH:D007516 UMLS:C5848399 ICDO:8150/1 GARD:22052" - "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 MedDRA:10004676 ICD9:576.9 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" + "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 ICD9:576.9 MedDRA:10004676 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "SCTID:254955001 GARD:9371 MEDGEN:91096 UMLS:C0346300 HP:0011763 NCIT:C4536 DOID:4916 ONCOTREE:PTCA ICDO:8272/3 Orphanet:300385" "Quantification of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in a sample." "PMID:29875488" @@ -54547,7 +54548,7 @@ "Quantification of the amount of 3-hydroxyhexanoate in a sample." "PMID:35347128" "Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms)." "PMID:32554808 PMID:28859374" "A lysophosphatidylethanolamine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2." "PMID:19347970" - "Inflammation of a vein." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" + "Inflammation of a vein." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" "The amount of a leucine-rich repeat-containing protein 3 when measured in blood serum." "CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" "The amount of a smad1 when measured in blood serum." @@ -55127,7 +55128,7 @@ "Malignant Burkitt lymphoma cell line BL 60" "BTO:0001934 RRID:CVCL_7034" "human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" "MEDGEN:1802965 OMIM:619840 UMLS:C5676968" - "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." "VHOG:0000107 AAO:0011017 EFO:0003647 Wikipedia:Chordamesoderm TAO:0001204 XAO:0000205 ZFA:0001204" + "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." "AAO:0011017 EFO:0003647 Wikipedia:Chordamesoderm TAO:0001204 XAO:0000205 ZFA:0001204 VHOG:0000107" "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]." "BTO:0000416 FMA:9639 CARO:0000066 MESH:D004848 Wikipedia:Epithelium UMLS:C0014609 FBbt:00007005 SCTID:31610004 EHDAA2:0003066 ZFA:0001486 MA:0003060 CALOHA:TS-0288 VHOG:0000387 XAO:0003045 HAO:0000066 AAO:0010055 AEO:0000066 NCIT:C12710 GAID:402 AAO:0000144 TAO:0001486 BILA:0000066 EMAPA:32738" "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." "UMLS:C0334633 ONCOTREE:LPL icd11.foundation:2058944823 SCTID:190817009 DOID:0050747 NCIT:C3212 ICD9:273.3 ICDO:9761/3 MEDGEN:473052 ICDO:9671/3" "The determination of the amount of Citraconic acid in a blood sample" "PubChem:643798 KEGG COMPOUND:C02214" @@ -55783,7 +55784,7 @@ "Quantification of cholesterol to total lipids in medium HDL." "quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a β-ionone ring at one end and an α-ionone ring at the opposite end" "SNOMEDCT:442143003" - "An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." "EV:0100371 SCTID:244457007 NCIT:C12466 MA:0000217 EMAPA:32808 TAO:0007009 EHDAA:3776 EHDAA:4657 MESH:D010525 BIRNLEX:1615 NCIT:C12768 XAO:0003047 NLX:147826 FMA:65132 FMA:65239 SCTID:256864008 BSA:0000098 GAID:747 MA:0000228 BTO:0001027 BAMS:n EMAPA:32815 XAO:0000204 EHDAA:2851 GAID:758 EHDAA2:0003137 FBbt:00005105 AEO:0000137 Wikipedia:Nervous_system UMLS:C0031119 galen:Nerve VHOG:0000901 BTO:0000925 UMLS:C0027740 ZFA:0007009 CALOHA:TS-0772 AAO:0011070" + "An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures." "EV:0100371 SCTID:244457007 NCIT:C12466 MA:0000217 EMAPA:32808 TAO:0007009 EHDAA:3776 EHDAA:4657 MESH:D010525 BIRNLEX:1615 NCIT:C12768 NLX:147826 XAO:0003047 FMA:65132 FMA:65239 SCTID:256864008 BSA:0000098 GAID:747 MA:0000228 BTO:0001027 BAMS:n EMAPA:32815 XAO:0000204 EHDAA:2851 GAID:758 EHDAA2:0003137 FBbt:00005105 AEO:0000137 Wikipedia:Nervous_system UMLS:C0031119 galen:Nerve VHOG:0000901 BTO:0000925 UMLS:C0027740 ZFA:0007009 CALOHA:TS-0772 AAO:0011070" "SNOMEDCT:38836002" "The amount of a sperm-associated antigen 11A when measured in blood serum." @@ -55972,7 +55973,7 @@ "ZFA:0000417" "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" "MeSH:D025063" "Heterocyclic compound with sulfur and nitrogen in the ring." - "A benzodiazepine that is 5H-dibenzo[b,e][1,4]diazepine substituted by a chloro group at position 8 and a 4-methylpiperazin-1-yl group at position 11. It is a second generation antipsychotic used in the treatment of psychiatric disorders like schizophrenia." "KEGG DRUG:D00283 PMID:18766167 Beilstein:0764984 ChemIDplus:5786-21-0 SNOMEDCT:96221003 HMDB:HMDB0014507 DrugBank:DB00363 Patent:NL293201 Patent:US3539573 PMID:24219174 Wikipedia:Clozapine MeSH:D003024 PMID:20825390 KEGG:C06924 CAS:5786-21-0 NCIt:C28936 KEGG COMPOUND:C06924 SNOMEDCT:387568001 Drug_Central:722 Patent:FR1334944 KEGG:D00283 ChEMBL:102261 PMID:18690109 Reaxys:764984" + "A benzodiazepine that is 5H-dibenzo[b,e][1,4]diazepine substituted by a chloro group at position 8 and a 4-methylpiperazin-1-yl group at position 11. It is a second generation antipsychotic used in the treatment of psychiatric disorders like schizophrenia." "KEGG DRUG:D00283 PMID:18766167 Beilstein:0764984 ChemIDplus:5786-21-0 HMDB:HMDB0014507 SNOMEDCT:96221003 DrugBank:DB00363 Patent:NL293201 Patent:US3539573 PMID:24219174 Wikipedia:Clozapine MeSH:D003024 PMID:20825390 KEGG:C06924 CAS:5786-21-0 NCIt:C28936 KEGG COMPOUND:C06924 SNOMEDCT:387568001 Drug_Central:722 Patent:FR1334944 KEGG:D00283 ChEMBL:102261 PMID:18690109 Reaxys:764984" "OMIM:112240 OMIM:616294 ICD10:Q78.0 MeSH:C535963 UMLS:C1862178" "Single-molecule droplet barcoding" "PMID:27353563" "human B-cell lymphoma cell line established from the peritoneal effusion of a patient with lymphoma, described at the time as true histiocytic lymphoma, in 1984 (DSMZ catalog number ACC 561)" @@ -56230,7 +56231,7 @@ "The amount of a ubiquitin carboxyl-terminal hydrolase 14 when measured in blood serum." "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." "MEDGEN:1653385 UMLS:C4749464 Orphanet:352629 GARD:21523" - "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "Orphanet:1020 GARD:12798" + "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "GARD:12798 Orphanet:1020" "The amount of a protein PET117 homolog, mitochondrial when measured in blood serum." "A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification." "SNOMEDCT:414408004 NCIt:C17459" "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." "SCTID:715820004 MEDGEN:900624 icd11.foundation:1837040262 UMLS:C4274992 GARD:19733 Orphanet:100013" @@ -56340,7 +56341,7 @@ "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." "MEDGEN:42278 UMLS:C0018078 icd11.foundation:684710834 SCTID:236682002 NCIT:C26787" "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." "OMIM:614433 DOID:0110113 MEDGEN:482420 UMLS:C3280790" - "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "ICDO:8551/3 MEDGEN:224757 DOID:7729 UMLS:C1266087 NCIT:C5727" + "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "ICDO:8551/3 MEDGEN:224757 DOID:7729 NCIT:C5727 UMLS:C1266087" "The mucosal layer that lines the stomach." "EMAPA:35817 GAID:321 Wikipedia:Gastric_mucosa FMA:14907 UMLS:C0017136 BTO:0001308 NCIT:C32656 SCTID:362131005 MA:0002683 galen:GastricMucosa MESH:D005753 CALOHA:TS-0404" "The amount of a matrix-remodeling-associated protein 7 when measured in blood serum." @@ -56400,7 +56401,7 @@ "OMIM:202650 ICD10:Q87.8" "The amount of a collagen alpha-1(V) chain when measured in blood." "PMID:37794183" "HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." "BTO:0001950 CLO:0009989 RRID:CVCL_0336" - "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EV:0100077 EFO:0000840 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 UMLS:C0021851 Wikipedia:Large_intestine_(anatomy) MESH:D007420 MIAA:0000046" + "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EFO:0000840 EV:0100077 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 UMLS:C0021851 Wikipedia:Large_intestine_(anatomy) MESH:D007420 MIAA:0000046" "Quantification of the amount of erythronate in a sample." "PMID:24816252" @@ -57026,7 +57027,7 @@ "Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" "OMIM:193510 OMIM:611584 ICD10:E70.3 MeSH:C536463 OMIM:608890 UMLS:C2700265 OMIM:606662 OMIM:600193" "A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line." "Wikipedia:Long_bone NCIT:C33003 galen:LongBone SCTID:332709000 BTO:0004256 MA:0002802 UMLS:C0222647 FMA:7474 EMAPA:35503" "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE." "MeSH:D059268 MedDRA:10003690 SNOMEDCT:52441000" - "Abnormally high intraocular pressure." "icd11.foundation:535283437 NCIt:C3285 SCTID:4210003 MedDRA:10030043 MESH:D009798 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" + "Abnormally high intraocular pressure." "icd11.foundation:535283437 NCIt:C3285 SCTID:4210003 MESH:D009798 MedDRA:10030043 DOID:9282 MONDO:0006875 UMLS:C0028840 SNOMEDCT:4210003 ICD9:365.04 MEDGEN:10423 MeSH:D009798" "A primary or metastatic malignant neoplasm involving the nervous system." "MONDO:0005872 SCTID:372063002 ICD9:192.9 EFO:0007392 DOID:3093 ICD9:192.8 UMLS:C0497549 MESH:D009423 ICD9:192 MEDGEN:99231 NCIT:C4788" "Quantification of the amount of X-17335 in a sample." "PMID:35347128" "ICD10:Q43.1" @@ -57530,7 +57531,7 @@ "Quantification of the amount of GlcNAc sulfate conjugate of C21H34O2 steroid in a sample." "PMID:35347128" "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "NANDO:2200036 icd11.foundation:933337476 EFO:0007336 SCTID:724649000 NCIT:C6921 ICDO:9756/3 DOID:7146 ONCOTREE:LCS UMLS:C1260327 GARD:0010491 MONDO:0019480 MESH:D054752 GARD:10491 ICD10:C96.4 MEDGEN:266041 icd11.foundation:588958190 Orphanet:86897" "POPULATION/CONVENIENCE CONTROL" - "A carcinoma involving a uterus." "MEDGEN:755620 SCTID:446022000 EFO:0002919 UMLS:C2960452 MONDO:0005213" + "A carcinoma involving a uterus." "MEDGEN:755620 EFO:0002919 SCTID:446022000 UMLS:C2960452 MONDO:0005213" "The determination of the amount of eukaryotic initiation factor 4a-III in a sample" "PMID:28240269" "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." "GARD:5878 MeSH:D001404 MESH:D001404 NORD:832 DOID:9643 UMLS:C0004576 NCIT:C84581 MEDGEN:2523 SCTID:21061004 ICD10CM:B60.0 MedDRA:10003965 Orphanet:108 icd11.foundation:1947003329 MONDO:0005661 ICD9:088.82" @@ -57736,7 +57737,7 @@ "Quantification of cholesterol esters contained in or bound to HDL." "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" "MedDRA:10059354 MeSH:D018221" "The amount of a Phosphatidylcholine (O-18:1_18:2) when measured in blood serum." - "Posterior part of the cerebral hemisphere (MSH)." "BAMS:OL CALOHA:TS-0693 BAMS:Occipital_lobe HBA:4180 DHBA:12148 MESH:D009778 FMA:67325 MAT:0000507 SCTID:180923002 UMLS:C0028785 BTO:0000293 Wikipedia:Occipital_lobe neuronames:140 NCIT:C12355 EV:0100170 GAID:678 BIRNLEX:1136 EFO:0000915" + "Posterior part of the cerebral hemisphere (MSH)." "BAMS:OL CALOHA:TS-0693 BAMS:Occipital_lobe HBA:4180 DHBA:12148 MESH:D009778 FMA:67325 MAT:0000507 SCTID:180923002 UMLS:C0028785 Wikipedia:Occipital_lobe BTO:0000293 neuronames:140 NCIT:C12355 EV:0100170 GAID:678 BIRNLEX:1136 EFO:0000915" "Inflammation of a synovial membrane." "MESH:D013585 MeSH:D013585 NCIT:C50766 MONDO:0002400 NCIt:C50766 UMLS:C0039103 DOID:2703 HP:0100769 MEDGEN:21051 MedDRA:10042868 SCTID:416209007" @@ -58130,7 +58131,7 @@ "The postaxial bone of the proximal tarsals series[Phenoscape]." "EMAPA:19134 NCIT:C32250 galen:Calcaneum MESH:D002111 MA:0001348 BTO:0002355 SCTID:182099002 FMA:24496 VSAO:0005016 UMLS:C0006655 Wikipedia:Calcaneus" "The amount of a UPF0235 protein C15orf40 when measured in blood serum." "The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts." "FBbt:00004482" - "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "MEDGEN:308948 GARD:20492 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" + "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "GARD:20492 MEDGEN:308948 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" "The amount of a ADP-ribose glycohydrolase MACROD2 when measured in blood serum." "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "GARD:12510 MEDGEN:42149 SCTID:50967008 icd11.foundation:797306953 UMLS:C0017083 DOID:2368 Orphanet:309144" "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." "MEDGEN:120590 Orphanet:2604 SCTID:63684002 ICD9:359.89 icd11.foundation:1838806574 UMLS:C0266833 GARD:3443" @@ -58299,7 +58300,7 @@ "The determination of the amount of SLAM family member 6 in a sample" "PMID:28240269" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." "Orphanet:98886 DOID:0111045 MEDGEN:481744 OMIM:614200 GARD:16868 MESH:C566000 UMLS:C3280114" "The amount of a chymotrypsin-like elastase family member 1 when measured in blood serum." - "Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." "SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064 DOID:2945" + "Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia." "DOID:2945 SCTID:398447004 UMLS:C1175175 MEDGEN:262817 icd11.foundation:652944603 MeSH:D045169 MONDO:0005091 MedDRA:10061982 MESH:D045169 NCIt:C85064 Orphanet:140896 SNOMEDCT:398447004 GARD:9237 ICD9:079.82 NCIT:C85064" "A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6." "Wikipedia:Orotic_acid Drug_Central:3402 Beilstein:383901 HMDB:HMDB0000226 KEGG:D00055 KNApSAcK:C00019689 PMID:22307261 PDBeChem:ORO PMID:22634191 Reaxys:383901 PMID:22019295 PMID:11059538 PMID:22285839 CAS:65-86-1 PMID:22707164 KEGG:C00295 MetaCyc:OROTATE PMID:22371390 Gmelin:101990 PMID:7264771 DrugBank:DB02262 PMID:22770225 PMID:22863860" "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." "NCIT:C4733 NANDO:2200917 UMLS:C0031269 OMIM:175200 NORD:1570 SCTID:54411001 DOID:3852 ICD9:759.6 NCIT:C3324 GARD:7378 Orphanet:2869 icd11.foundation:969253189 MedDRA:10034764 MEDGEN:18404 MESH:D010580" "Quantification of n-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C in a sample." "PMID:29875488" @@ -58796,7 +58797,7 @@ "Quantification of SPRY domain-containing SOCS box protein 1 in a sample." "PMID:29875488" "An organic disulfide that results from the formal oxidative dimerisation of N,N-diethyldithiocarbamic acid. A multi-enzyme inhibitor that is used in alcohol aversion therapy and also exhibits anticancer properties." "PMID:16661923 PMID:17667894 PMID:25777347 PMID:31151194 PMID:25565438 PMID:15325261 PMID:17079463 PMID:15709459 PMID:32963852 PMID:19782464 Drug_Central:928 PMID:26033731 PMID:26517513 PMID:10841824 PMID:33731397 PMID:11716515 KEGG:D00131 DrugBank:DB00822 PMID:26239994 PMID:8442800 LINCS:LSM-5467 PMID:32971817 PMID:24496638 PMID:26235918 PMID:19787200 PMID:26314552 Pesticides:disulfiram PMID:19720750 PMID:34012274 PMID:26550292 PMID:8572926 PMID:26224731 MetaCyc:DISULFIRAM PMID:25657800 Reaxys:1712560 PMID:25495604 PMID:14978246 PMID:25464072 CAS:97-77-8 PMID:16880974 PMID:25133664 PMID:25476326 KEGG:C01692 Wikipedia:Disulfiram PMID:25557293 PMID:11005259 PMID:16666414 PMID:18579431 PMID:34045896 HMDB:HMDB0014960 PMID:25445071 PMID:21471244 PMID:17579916 PMID:16426571" - "Anatomical structure that is part of an embryo." "XAO:0003042 CALOHA:TS-2110 SCTID:667009 NCIT:C13229 BILA:0000034 RETIRED_EHDAA2:0003169 BTO:0000174 UMLS:C0013948 MESH:D004628 TAO:0001105 FBbt:00004208 AAO:0000138 EFO:0000461 GAID:407 FMA:69067 VSAO:0000178 ZFA:0001105" + "Anatomical structure that is part of an embryo." "XAO:0003042 CALOHA:TS-2110 SCTID:667009 NCIT:C13229 BILA:0000034 RETIRED_EHDAA2:0003169 BTO:0000174 UMLS:C0013948 MESH:D004628 TAO:0001105 FBbt:00004208 AAO:0000138 EFO:0000461 GAID:407 FMA:69067 ZFA:0001105 VSAO:0000178" "The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain." "MFO:0002340 MA:0000195 MAT:0000107 TAO:0000029 XAO:0000015 ZFA:0000029 EHDAA:3514 BTO:0000672 EMAPA:16916 NIFSTD:birnlex_942 SAEL:50 FMA:67687" "Quantification of transmembrane protease serine 11A in a sample." "PMID:29875488" @@ -59509,7 +59510,7 @@ "The amount of a desmocollin-1 when measured in blood serum." - "The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." "EMAPA:37185 NCIT:C53063 MA:0002213 EFO:0004271 UMLS:C0035327 Wikipedia:Central_retinal_vein GAID:524 FMA:51799 MESH:D012169 SCTID:280913005" + "The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]." "SCTID:280913005 EMAPA:37185 NCIT:C53063 MA:0002213 EFO:0004271 UMLS:C0035327 Wikipedia:Central_retinal_vein GAID:524 FMA:51799 MESH:D012169" "The amount of a E3 ubiquitin-protein ligase DTX1 when measured in blood serum." "A mature T cell that differentiated and acquired cytotoxic function with the phenotype perforin-positive and granzyme-B positive." "CALOHA:TS-0190 BTO:0000289 FMA:70573" @@ -59574,7 +59575,7 @@ "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "UMLS:C0026267 icd11.foundation:1085590500 SCTID:8074002 SCTID:409712001 NCIT:C50655 MEDGEN:7671 HP:0001634 DOID:988 MESH:D008945" "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "ICD10:D81.2 OMIM:300400 UMLS:C2931540" "An acyclic desferrioxamine that is butanedioic acid in which one of the carboxy groups undergoes formal condensation with the primary amino group of N-(5-aminopentyl)-N-hydroxyacetamide and the second carboxy group undergoes formal condensation with the hydroxyamino group of N(1)-(5-aminopentyl)-N(1)-hydroxy-N(4)-[5-(hydroxyamino)pentyl]butanediamide. It is a siderophore native to Streptomyces pilosus biosynthesised by the DesABCD enzyme cluster as a high affinity Fe(III) chelator." "LIPID_MAPS_instance:LMFA08020169 KEGG:C06940 PMID:32039778 HMDB:HMDB0014884 PMID:28285915 PMID:31846315 PMID:18536609 PMID:31035197 KEGG:D03670 PMID:29182270 CAS:70-51-9 PMID:32734456 PMID:28455567 PMID:28156129 DrugBank:DB00746 Beilstein:2514118 PMID:11239825 Chemspider:2867 LINCS:LSM-6541 PMID:31229836 PMID:32572744 PMID:30701380 Drug_Central:792 Wikipedia:Deferoxamine PMID:33784308 Patent:BE609053 PMID:28318697 PMID:32856363" - "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "FMA:59790 UMLS:C0030580 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" + "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "UMLS:C0030580 FMA:59790 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. [ NCIT ]" "NCIT:C3662 MedDRA:10046811 DOID:9042 SCTID:11314008 ICD9:621.0 UMLS:C0156369 MONDO:0004701 MEDGEN:57628 ICD10CM:N84.0 NCIt:C3662" "The amount of a aldo-keto reductase family 1 member C4 when measured in blood serum." "A central nervous system disease that involves encephalitis which occurs along with meningitis." "UMLS:C0025309 MeSH:D008590 MedDRA:10027282 MESH:D008590 SCTID:7125002 DOID:10554 MEDGEN:6301 ICD10:G04 NCIT:C34813 MONDO:0005845" diff --git a/src/ontology/reports/class-count-by-prefix.tsv b/src/ontology/reports/class-count-by-prefix.tsv index 3a7f7ec3..7010f0c7 100644 --- a/src/ontology/reports/class-count-by-prefix.tsv +++ b/src/ontology/reports/class-count-by-prefix.tsv @@ -21,7 +21,7 @@ "CHEBI" 1774 "OBI" 72 "IDO" 1 -"MONDO" 12198 +"MONDO" 12199 "FBdv" 1 "FBbt" 110 "IAO" 6 diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index 3da29f63..977f4801 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12571 +1,12571 @@ ?x ?p ?y - - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid324753 - - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid28037 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid323905 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid282103 - 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_:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid326024 @@ -77288,9 +77286,10 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid325356 @@ -77337,11 +77336,10 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid327836 @@ -77375,7 +77373,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325328 @@ -77421,7 +77418,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid326336 @@ -77504,9 +77500,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -77637,6 +77633,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid293859 @@ -77667,11 +77664,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325988 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325732 @@ -77732,6 +77727,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327716 @@ -77783,8 +77779,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -77961,9 +77957,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + - @@ -78018,8 +78014,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78040,8 +78036,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78064,6 +78060,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid292066 @@ -78150,6 +78147,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid293469 @@ -78176,7 +78174,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid326528 @@ -78308,8 +78305,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78503,8 +78500,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78564,6 +78561,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327848 @@ -78587,6 +78585,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326788 @@ -78641,7 +78640,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325820 @@ -78683,6 +78681,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid325380 @@ -78690,6 +78689,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid26712 @@ -78698,7 +78698,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid326124 @@ -78751,12 +78750,13 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - - + + + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid2367 @@ -78811,8 +78811,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78866,8 +78866,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -78893,6 +78893,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid293981 @@ -78984,8 +78985,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -79015,9 +79016,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + - @@ -79084,16 +79085,15 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + - - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid327544 @@ -79198,6 +79198,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326320 @@ -79243,6 +79244,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid293451 @@ -79274,8 +79276,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -79311,9 +79313,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + - @@ -79323,7 +79325,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid15559 @@ -79399,9 +79400,10 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + - + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid292031 @@ -79593,6 +79595,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid295569 @@ -79673,7 +79676,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid326812 @@ -79709,7 +79711,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid301277 @@ -79915,7 +79916,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325468 @@ -80010,7 +80010,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid327740 @@ -80057,11 +80056,11 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid15559 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid37214 @@ -80162,9 +80161,9 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid359705 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid25813 @@ -80173,7 +80172,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid292190 @@ -80190,6 +80188,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326304 @@ -80245,7 +80244,6 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid325051 @@ -80265,6 +80263,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327812 @@ -80350,16 +80349,15 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid292496 + - @@ -80421,6 +80419,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327272 @@ -80521,6 +80520,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327632 @@ -80571,8 +80571,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -80581,8 +80581,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -80665,6 +80665,7 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 + _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327284 @@ -80681,8 +80682,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + @@ -80753,8 +80754,8 @@ _:B33f67803X2D146fX2D477dX2D9020X2Def6c2fef9ae5genid361352 - + diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index e3ab75b1..811307b2 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -48,8 +48,8 @@ "NEDD8-activating enzyme E1 regulatory subunit" "level of phosphoserine phosphatase in blood serum" "1,6-anhydroglucose measurement" - "obsolete_Potocki-Shaffer syndrome" "Episodic flaccid weakness" + "obsolete_Potocki-Shaffer syndrome" "Hyperuricemia" "brachycephaly, trichomegaly, and developmental delay" "level of dynein light chain Tctex-type 3 in blood serum" @@ -147,8 +147,8 @@ "interleukin-11 measurement" "amp kinase (alpha2beta2gamma1) measurement" "obsolete_Mowat-Wilson syndrome due to a ZEB2 point mutation" - "fibromyalgia" "congenital entropion" + "fibromyalgia" "PH and SEC7 domain-containing protein 2 measurement" "dyskeratosis congenita" "hypertension, pregnancy-induced" @@ -264,9 +264,9 @@ "interleukin-33 (Rattus norvegicus)" "1-eicosatrienoylglycerophosphocholine measurement" "4-acetamidobutanoate" + "level of cadherin-22 in blood" "level of Phosphatidylcholine (16:0_16:1) in blood serum" "alkaline phosphatase, placental type" - "level of cadherin-22 in blood" "complement component 3 deficiency" "spatial transcriptomics" "Ectodermal dysplasia - cutaneous syndactyly syndrome" @@ -417,8 +417,8 @@ "multiple gestation" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1" "lactose intolerance adult type" - "abnormal chest sounds" "level of clusterin-associated protein 1 in blood serum" + "abnormal chest sounds" "Hengel-Maroofian-Schols syndrome" "level of peptidyl-prolyl cis-trans isomerase FKBP1A in blood serum" "obsolete_unilateral hemispheric polymicrogyria" @@ -429,8 +429,8 @@ "adenoid cystic carcinoma of oropharynx" "obsolete_KID syndrome" "obsolete_Wilms tumor (bis)" - "cadherin-related family member 5 measurement" "CCL11 measurement" + "cadherin-related family member 5 measurement" "CS57751" "dermatitis, atopic, 2" "retinal dystrophy with or without macular staphyloma" @@ -459,8 +459,8 @@ "ILSXISS98/TejJ" "obsolete_dermis" "S-methylcysteine" - "height growth measurement" "atresia of urethra" + "height growth measurement" "regulator of G-protein signaling 5" "Granular Cell Tumor" "obsolete_autosomal recessive ataxia, Beauce type" @@ -575,8 +575,8 @@ "tumor stage" "kidney benign neoplasm" "offspring mortality measurement" - "obsolete_Charcot-Marie-Tooth disease type 1" "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome" + "obsolete_Charcot-Marie-Tooth disease type 1" "Familial hypocalciuric hypercalcemia type 2" "R1" "glandular cell neoplasm" @@ -642,9 +642,9 @@ "uncharacterized protein CXorf38" "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial" "Xeroderma pigmentosum complementation group B" + "optic papillitis" "arrhythmogenic right ventricular dysplasia, familial, 14" "level of autophagy-related protein 16-1 in blood" - "optic papillitis" "intercellular adhesion molecule 5 measurement" "nuclear cap-binding protein subunit 1" "level of CCN family member 1 in blood serum" @@ -761,10 +761,10 @@ "poliovirus receptor" "nervous system injury" "Brunet-Wagner neurodevelopmental syndrome" + "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "level of bone marrow proteoglycan in blood" "sample collection protocol" "cyclic AMP-dependent transcription factor ATF-6 alpha measurement" - "ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder" "obsolete_amyloidosis cutis dyschromia" "familial intrahepatic cholestasis" "cadherin-3 measurement" @@ -1069,9 +1069,9 @@ "tRNA-specific adenosine deaminase 2" "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" - "level of thymidine phosphorylase in blood" "Actinobacillus pleuropneumoniae serovar 1 str. 4074" "short stature due to growth hormone qualitative anomaly" + "level of thymidine phosphorylase in blood" "dermatopathia pigmentosa reticularis" "receptor-binding cancer antigen expressed on SiSo cells" "Genetic syndrome with limb reduction defects" @@ -1131,20 +1131,20 @@ "Somatic sensory dysfunction" "obsolete_hyperinsulinism due to HNF1A deficiency" "Nidovirales infectious disease" - "obsolete_cystinuria type B" "beta-defensin 118 measurement" "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" + "obsolete_cystinuria type B" "Arterial thrombosis" "level of cyclic AMP-responsive element-binding protein 3-like protein 1 in blood serum" "haltere" "MEL-JUSO" "guanidinoacetate methyltransferase deficiency" "Paget disease of the penis" - "orthopedic nursing" "NCI-H929" "obsolete_dorsal anterior lateral line ganglion" "mosaic" "posterior cingulate cortex" + "orthopedic nursing" "spastic ataxia 7" "vitamin B12 measurement" "hearing disorder" @@ -1185,8 +1185,8 @@ "calsyntenin-3" "PRO-seq" "Streptococcus pneumoniae" - "cholesterol homeostasis" "brachyolmia-amelogenesis imperfecta syndrome" + "cholesterol homeostasis" "(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity" "Syndactyly - telecanthus - anogenital and renal malformations" "level of methylthioribose-1-phosphate isomerase in blood" @@ -1271,27 +1271,27 @@ "level of Rho guanine nucleotide exchange factor 16 in blood serum" "trans-3-hydroxycotinine" "Ramos" - "bone sarcoma" "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome" + "bone sarcoma" "Thumb stiffness - brachydactyly - intellectual disability" "spinocerebellar ataxia type 5" "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "lymphocyte antigen 86 measurement" "prostate gland" + "lymphocyte antigen 86 measurement" "level of folate receptor alpha in blood serum" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "subarachnoid space" "Mietens syndrome" "Ma-Mel-11 cell" "obsolete_Non-syndromic congenital cataract" + "neuromyelitis optica" "MHC class II deficiency" "cardiac valvular defect" - "neuromyelitis optica" + "ILSXISS99/TejJ" "library preparation" "interferon alpha-5" - "ILSXISS99/TejJ" "obsolete_response to hydrochlorothiazide" "level of ubiquitin/ISG15-conjugating enzyme E2 L6 in blood" "tibial nerve" @@ -1326,8 +1326,8 @@ "Hypoammonemia" "transmembrane protein 132B" "atypical choroid plexus papilloma" - "epigenetic status" "transcription elongation factor A protein-like 5" + "epigenetic status" "Methylobacterium extorquens" "Pyloric Gland Adenoma" "obsolete_Cockayne syndrome type 3" @@ -1338,8 +1338,8 @@ "uridine diphosphate measurement"@en "Streptococcus pyogenes MGAS6180" "zinc finger protein 264" - "Abnormal liver function tests during pregnancy" "oral leukoedema" + "Abnormal liver function tests during pregnancy" "level of sodium/potassium-transporting ATPase subunit beta-1 in blood" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1" @@ -1349,9 +1349,9 @@ "interferon gamma measurement" "nuclear cap-binding protein subunit 2" "level of cytohesin-1 in blood serum" + "obsolete_monosomy 22" "finger fracture" "Influenza A seropositivity" - "obsolete_monosomy 22" "hepatic leukemia factor" "protein HID1" "obsolete_Tay-Sachs disease, b variant, infantile form" @@ -1379,8 +1379,8 @@ "patched domain-containing protein 3" "potassium voltage-gated channel subfamily F member 1 measurement" "X-11374 measurement" - "obsolete_non-distal trisomy 13q" "cholesterol esters in large HDL measurement" + "obsolete_non-distal trisomy 13q" "HT144" "level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum" "DnaJ homolog subfamily C member 12" @@ -1515,8 +1515,8 @@ "benign epithelial skin neoplasm" "protein unc-119 homolog B" "tolloid-like protein 1" - "peptidyl-prolyl cis-trans isomerase B measurement" "obsolete_hereditary mixed polyposis syndrome" + "peptidyl-prolyl cis-trans isomerase B measurement" "familial dilated cardiomyopathy" "methionine measurement" "level of poly(rC)-binding protein 2 in blood" @@ -1562,8 +1562,8 @@ "reproductive system disease" "core-binding factor subunit beta measurement" "intestinal pseudo-obstruction" - "solute carrier family 41 member 2" "level of activin/inhibin beta B chain in blood" + "solute carrier family 41 member 2" "level of interferon omega-1 in blood serum" "adult acute myeloid leukemia" "liver failure" @@ -1574,10 +1574,10 @@ "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en - "IgG fucosylation measurement" "multiple epiphyseal dysplasia" "26S proteasome non-ATPase regulatory subunit 4" "BDC2.5/NOD" + "IgG fucosylation measurement" "trait in response to melphalan" "ventricular septal defect 2" "prostate leiomyoma" @@ -1627,11 +1627,11 @@ "alpha-N-acetylgalactosaminidase" "level of caveolin-2 in blood serum" "substance dependence" - "macrophage-stimulating protein receptor measurement" - "intellectual disability, autosomal recessive 60" "KELLY" + "intellectual disability, autosomal recessive 60" "hereditary spastic paraplegia 7" "nasal cavity mucosa" + "macrophage-stimulating protein receptor measurement" "level of myb proto-oncogene protein in blood serum" "non-distal trisomy 9q" "ascending aortic diameter"@en @@ -1700,8 +1700,8 @@ "HUES65" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement" "macular dystrophy with central cone involvement" - "obsolete_pontocerebellar hypoplasia type 1" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" + "obsolete_pontocerebellar hypoplasia type 1" "Bifid ribs" "interleukin 17 measurement" "level of probable ATP-dependent RNA helicase DDX53 in blood" @@ -1783,21 +1783,21 @@ "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "Monoamine oxidase A deficiency" "protein enabled" - "Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy" "hypotrichosis 4" "vocal organ" + "Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy" "1-myristoylglycerophosphocholine measurement" "level of 1-stearoyl-sn-glycero-3-phosphocholine in blood" "coronin-1A" "pterin-4-alpha-carbinolamine dehydratase 2 measurement" "pepsinogen I/II ratio" "Adenomyosis" - "lysosome" "X-25790 measurement" + "lysosome" "level of protein FAM229A in blood serum" + "Spondylocostal dysostosis - hypospadias - intellectual disability" "Hammer Toe Syndrome" "GM17259" - "Spondylocostal dysostosis - hypospadias - intellectual disability" "tapasin measurement" "3C" "maxillary sinus squamous cell carcinoma" @@ -1885,9 +1885,9 @@ "serum N-desmethylclozapine measurement" "ephrin type-a receptor 5 measurement" "adhesion G protein-coupled receptor L3" - "obsolete_isochromosomy Yp" "stroma of bone marrow" "3-aminoisobutyrate" + "obsolete_isochromosomy Yp" "dual specificity protein phosphatase 26" "enlarged vestibular aqueduct syndrome" "developmental and epileptic encephalopathy, 88" @@ -1999,9 +1999,9 @@ "Acute" "peroxisome biogenesis disorder 8A (Zellweger)" "benign neoplasm of corpus uteri" - "CD83 antigen measurement" "level of peptidyl-prolyl cis-trans isomerase FKBP3 in blood serum" "immunodeficiency 70" + "CD83 antigen measurement" "pancreas volume" "disorder of galactose metabolism" "C-Cell Hyperplasia" @@ -2044,9 +2044,9 @@ "Primary Peritoneal Serous Adenocarcinoma" "obsolete_subthalamic nucleus" "apoplasm" + "Erythema palmaris hereditarium" "histone-lysine N-methyltransferase 2D" "palatine uvula" - "Erythema palmaris hereditarium" "acth-independent macronodular adrenal hyperplasia 2" "Joubert syndrome 37" "5-dodecenoate 12:1n7 measurement" @@ -2062,10 +2062,10 @@ "generalised epilepsy" "KP-2" "chromodomain Y-like protein 2" + "obsolete_septopreoptic holoprosencephaly" "Peripheral demyelination" "obsolete chronic acquired demyelinating polyneuropathy" "myoseptum" - "obsolete_septopreoptic holoprosencephaly" "obsolete_gastrocutaneous syndrome" "acute pyelonephritis" "Rectal Hyperplastic Polyp" @@ -2104,10 +2104,10 @@ "emphysematous cholecystitis" "tracheal mucosa" "level of ribosomal protein S6 kinase alpha-1 in blood serum" - "obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "synophrys measurement" "submandibular gland cancer" "infundibulopelvic stenosis-multicystic kidney syndrome" + "obsolete_short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" "Concave nasal ridge" "level of armadillo repeat-containing protein 8 in blood serum" "Drowsiness" @@ -2118,8 +2118,8 @@ "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" "HT55" - "vascular endothelial growth factor C measurement" "obsolete_syndromic ankyloblepharon" + "vascular endothelial growth factor C measurement" "level of uroplakin-3a in blood" "SARS coronavirus" "autosomal recessive polycystic kidney disease" @@ -2129,9 +2129,9 @@ "obsolete_Xq27.3q28 duplication syndrome" "ST segment duration"@en "septin-1" + "fructose measurement"@en "sphingomyelin 16:0 measurement"@en "mushroom body primordium" - "fructose measurement"@en "abdominal cavity" "level of pre-B-cell leukemia transcription factor-interacting protein 1 in blood" "level of Sterol ester (27:1/18:0) in blood serum" @@ -2155,8 +2155,8 @@ "S1" "classic familial adenomatous polyposis" "proctocolitis" - "level of glycogen synthase kinase-3 beta in blood serum" "Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract" + "level of glycogen synthase kinase-3 beta in blood serum" "Apis mellifera ligustica" "thymus gland disorder" "nectin-2" @@ -2219,8 +2219,8 @@ "LIM domain kinase 1" "primary viral infectious disease" "sodium tungstate dihydrate" - "level of cytohesin-2 in blood serum" "obsolete_Pseudohypoparathyroidism type 1A" + "level of cytohesin-2 in blood serum" "lipodystrophy-intellectual disability-deafness syndrome" "knee fracture" "caspase-9" @@ -2311,8 +2311,8 @@ "complement C1r subcomponent measurement" "level of myosin-binding protein C, slow-type in blood serum" "level of ubiquinone biosynthesis protein COQ7 in blood serum" - "26S proteasome non-ATPase regulatory subunit 6" "trait in response to silicon dioxide" + "26S proteasome non-ATPase regulatory subunit 6" "histone deacetylase 4" "ventricular septal defect 3" "Charcot-Marie-Tooth disease" @@ -2337,11 +2337,11 @@ "obsolete_AICA-ribosiduria" "level of C-type lectin domain family 11 member A in blood" "illuminance unit" + "TruDrop" "level of protein canopy homolog 4 in blood serum" "differential expression analysis data transformation"@en "differential expression analysis data transformation" "level of enoyl-CoA hydratase, mitochondrial in blood serum" - "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" "Disorder of phenylalanin or tyrosine metabolism" @@ -2454,9 +2454,9 @@ "level of asparagine--tRNA ligase, cytoplasmic in blood" "hemoglobin subunit beta" "leucine-rich repeat transmembrane neuronal protein 2 measurement" + "TP53 Positive Breast Carcinoma" "Epstein Barr virus nuclear antigen-1 seropositivity" "level of inositol-tetrakisphosphate 1-kinase in blood serum" - "TP53 Positive Breast Carcinoma" "obsolete_combined oxidative phosphorylation defect type 17" "level of guanylate-binding protein 2 in blood serum" "genotype" @@ -2466,16 +2466,16 @@ "adult B acute lymphoblastic leukemia" "level of ribonucleoside-diphosphate reductase subunit M2 in blood serum" "serine protease inhibitor Kazal-type 2" - "obsolete_talo-patello-scaphoid osteolysis" "phosphatidylcholine diacyl C34:3 measurement" + "obsolete_talo-patello-scaphoid osteolysis" "Ovarian cyst" "GDP-fucose protein O-fucosyltransferase 2 measurement" "level of tetradecanedioate(2-) in blood" "GM14381" "age at assessment" - "sex cord-stromal tumor" "Ververi-Brady syndrome" "genotype design" + "sex cord-stromal tumor" "Oryza sativa Indica Group" "level of MHC class II histocompatibility antigen beta chain DRB3 in blood serum" "immature gastric teratoma" @@ -2496,8 +2496,8 @@ "CS57666" "glutathione synthase activity" "level of coatomer subunit epsilon in blood" - "Hypoplastic acetabulae" "Genetic developmental defect of the eye" + "Hypoplastic acetabulae" "obsolete_penis carcinoma" "transmembrane protein 234 measurement" "(S)-1-pyrroline-5-carboxylate" @@ -2536,13 +2536,13 @@ "terminal nerve" "meristematic cell" "RELT-like protein 1 measurement" + "histone H2A type 3 measurement" "omega-6 polyunsaturated fatty acid change measurement" "FL.02 1/2 of flowers open stage" "48,XXYY syndrome" "endometrium neoplasm" - "histone H2A type 3 measurement" - "systemic mastocytosis" "level of interferon-induced protein with tetratricopeptide repeats 1 in blood" + "systemic mastocytosis" "superficial epidermolytic ichthyosis" "PEComa" "obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral" @@ -2550,8 +2550,8 @@ "level of TOM1-like protein 2 in blood serum" "isolated focal cortical dysplasia type Ib" "mesenchyme derived from head neural crest" - "UM-UC-1" "gamma-linolenate" + "UM-UC-1" "joule per square meter" "Prader-Willi syndrome due to translocation" "thyroid lymphoma" @@ -2628,8 +2628,8 @@ "X-12283 measurement" "level of cyclic nucleotide-gated olfactory channel in blood serum" "level of synaptonemal complex central element protein 1-like in blood serum" - "level of methylthioribose-1-phosphate isomerase in blood serum" "obsolete_prothoracic gland" + "level of methylthioribose-1-phosphate isomerase in blood serum" "Pain" "group XIIB secretory phospholipase A2-like protein" "peptidyl-prolyl cis-trans isomerase FKBP14 measurement" @@ -2690,8 +2690,8 @@ "obsolete lens and zonula anomaly" "N-acetyl-1-methylhistidine measurement" "ephrin-A4 measurement" - "obsolete inherited non-syndromic ichthyosis" "NCI-H82" + "obsolete inherited non-syndromic ichthyosis" "dysbindin domain-containing protein 2" "cytochrome c oxidase subunit 8A, mitochondrial measurement" "cardiac transplant" @@ -2712,9 +2712,9 @@ "calpain-2 catalytic subunit measurement" "birdshot chorioretinopathy" "Microcephaly - cardiomyopathy" + "fibrinogen C domain-containing protein 1 measurement" "Chorioretinal degeneration" "normophosphatemic familial tumoral calcinosis" - "fibrinogen C domain-containing protein 1 measurement" "syndromic anorectal malformation" "level of hyaluronan mediated motility receptor in blood" "homeobox protein DLX-4" @@ -2734,8 +2734,8 @@ "bis(5'-adenosyl)-triphosphatase" "mixed testicular germ cell cancer" "MAB-seq" - "obsolete_fluid shear stress" "obsolete_congenital deformities of fingers" + "obsolete_fluid shear stress" "Entamoeba histolytica" "extensor tendons of finger anomalies" "natural killer cell activation" @@ -2749,13 +2749,13 @@ "level of protein GUCD1 in blood serum" "phosphatidylinositol transfer protein beta isoform measurement" "partial androgen insensitivity syndrome" - "obsolete_paroxysmal dyskinesia" "obsolete_pure or complex X-linked spastic paraplegia" + "obsolete_paroxysmal dyskinesia" + "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "cone-rod synaptic disorder syndrome, congenital nonprogressive" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement" "lung volume" "erythrocyte galactose epimerase deficiency" - "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "Calcifying Fibrous Tumor" "adult pineal parenchymal tumor" "interferon alpha-14 measurement" @@ -2783,10 +2783,10 @@ "1-methylguanosine" "type 2 lactosamine alpha-2,3-sialyltransferase measurement" "adenylosuccinate synthetase isozyme 1 measurement" - "obsolete_precursor T lymphoblastic leukemia" "ursodeoxycholate measurement"@en - "Malpighian tubule primordium" "major depressive episode" + "obsolete_precursor T lymphoblastic leukemia" + "Malpighian tubule primordium" "spermatogenic failure 54" "Thermoplasma acidophilum DSM 1728" "X-21339 measurement" @@ -2796,10 +2796,10 @@ "lethal recessive chondrodysplasia" "obsolete_synovial membrane" "obsolete synapse part" - "tonsillar ring" "childhood acute monocytic leukemia" - "Venous thrombosis" + "tonsillar ring" "level of immunoglobulin heavy constant gamma 4 in blood serum" + "Venous thrombosis" "POLR3B-related disorder" "level of Axin-2 in blood serum" "functional laterality" @@ -2830,18 +2830,18 @@ "strain" "MAN1B1-congenital disorder of glycosylation" "undisturbed flow regions" + "sphingomyelin 16:1 measurement"@en "septin-10" "obsolete_physiological process" - "sphingomyelin 16:1 measurement"@en "bradypnea" "level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum" "level of Sterol ester (27:1/20:5) in blood serum" - "Partial monosomy of the short arm of chromosome 17" "microcephaly, epilepsy, and diabetes syndrome" "fibrochondrogenesis 1" + "Partial monosomy of the short arm of chromosome 17" + "IMR-5" "metopic craniosynostosis" "protein SCO2, mitochondrial" - "IMR-5" "sebacate (C10-DC) measurement" "Familial advanced sleep-phase syndrome" "TGF-beta receptor type-1" @@ -2881,8 +2881,8 @@ "obsolete_Dianzani autoimmune lymphoproliferative disease" "Streptococcus pneumoniae TIGR4" "obsolete_anorectal malformation" - "v-set and transmembrane domain-containing protein 2-like protein measurement" "obsolete_pure mitochondrial myopathy" + "v-set and transmembrane domain-containing protein 2-like protein measurement" "fructose-1-phosphate measurement"@en "level of glutathione S-transferase omega-1 in blood serum" "benign mesenchymoma" @@ -2927,8 +2927,8 @@ "obsolete_severe dermatitis-multiple allergies-metabolic wasting syndrome" "Von Willebrand disease" "obsolete_posterior endoderm anlage" - "EEG with generalized slow activity" "level of inositol polyphosphate-5-phosphatase A in blood serum" + "EEG with generalized slow activity" "cerebral malaria" "obsolete_congenital stationary night blindness" "Fanconi anemia group F protein" @@ -2936,11 +2936,11 @@ "alpha globulin measurement" "abdominal obesity-metabolic syndrome 4" "obsolete_isolated autosomal dominant hypomagnesemia, Glaudemans type" + "caprate 10:0 measurement" "fused extravillous trophoblast"@en "CWRU1" "abdominal wall malformation" "intellectual developmental disorder, autosomal dominant 64" - "caprate 10:0 measurement" "level of diacylglycerol kinase beta in blood serum" "fungal-type cell wall" "Phosphoserine aminotransferase deficiency" @@ -2950,8 +2950,8 @@ "osteoprotegerin measurement" "Dehalobacter restrictus" "pediatric ovarian germ cell tumor" - "DSM-IV-based non-social scale" "obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome" + "DSM-IV-based non-social scale" "phosphatidylcholine O-34:2" "GM17804" "deafness-hypogonadism syndrome" @@ -2975,8 +2975,8 @@ "hypodermyiasis" "obsolete_potassium-aggravated myotonia" "ADP-ribosylation factor 4" - "level of cytohesin-3 in blood serum" "obsolete_pseudohypoparathyroidism type 1C" + "level of cytohesin-3 in blood serum" "foot fracture" "obsolete_Distal monosomy 6p" "central endosperm" @@ -3001,8 +3001,8 @@ "CD34-positive, GlyA-negative erythroid progenitor cell" "obsolete_ALG1-CDG" "POU domain, class 2, transcription factor 1 measurement" - "pemphigus herpetiformis" "SNP array" + "pemphigus herpetiformis" "protein kish-B" "chromosome 19p13.13 deletion syndrome" "obsolete_Wilson disease" @@ -3016,10 +3016,10 @@ "pregnancy associated osteoporosis" "Lake Victoria marburgvirus - Angola2005" "protein S100-A13 measurement" - "cancer or benign tumor" "Ptosis - syndactyly - learning difficulties" - "ADULT syndrome" + "cancer or benign tumor" "versican core protein measurement" + "ADULT syndrome" "Lobular Breast Carcinoma In Situ" "Cutaneous finger syndactyly" "multiple epiphyseal dysplasia due to collagen 9 anomaly" @@ -3044,13 +3044,13 @@ "obsolete_familial glucocorticoid deficiency" "TAIL-seq" "bilirubin transport" - "obsolete_disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "antigen peptide transporter 1" - "GEXSCOPE technology" + "obsolete_disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "level of CB1 cannabinoid receptor-interacting protein 1 in blood serum" - "paroxysmal tachycardia" + "GEXSCOPE technology" "obsolete_lateral mesenchyme derived from mesoderm" "beta-enolase" + "paroxysmal tachycardia" "protein kinase inhibitor" "Agitation" "brain stem neoplasm" @@ -3077,8 +3077,8 @@ "postmenopausal atrophic vaginitis" "46,XY disorder of sex development due to cholesterol synthesis defect" "JeKo-1" - "ovarian leiomyosarcoma" "leukocyte immunoglobulin-like receptor subfamily B member 3 measurement" + "ovarian leiomyosarcoma" "CTLL-2" "trafficking protein particle complex subunit 13" "histo-blood group ABO system transferase measurement" @@ -3096,9 +3096,9 @@ "pityriasis versicolor" "thrombophilia due to activated protein C resistance" "obsolete_congenital laryngomalacia" + "COLO 783" "transcriptional repressor NF-X1" "level of Val-Leu in blood" - "COLO 783" "RIN2 syndrome" "protein turtle homolog B" "mediastinum rhabdomyosarcoma" @@ -3263,10 +3263,10 @@ "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" "butyrophilin subfamily 2 member A2" - "thymus hyperplasia" "GATA2 deficiency with susceptibility to MDS/AML" "dyskeratosis congenita and related telomere biology disorder" "level of defensin beta 136 in blood serum" + "thymus hyperplasia" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" "trisomy" @@ -3305,8 +3305,8 @@ "ankylosing spondylitis" "MELAS" "cytohesin-4 measurement" - "X-21830 measurement" "anemia, hypochromic microcytic with iron overload" + "X-21830 measurement" "hip bone size" "portal endothelial cell"@en "centrosome-associated protein 350" @@ -3317,8 +3317,8 @@ "Isolated polycystic liver disease" "protein phosphatase 1M" "mediastinum" - "Balkan nephropathy" "level of polyadenylate-binding protein 3 in blood serum" + "Balkan nephropathy" "thrombospondin-3 measurement" "phosphatidylinositol transfer protein alpha isoform measurement" "omega-amidase NIT2" @@ -3372,26 +3372,26 @@ "villin-like protein" "Illumina Genome Analyzer standard manufacturer's protocol" "Dermatochalasis" - "1-oleoylglycerophosphoethanolamine measurement" "obsolete_motor stereotypies" - "level of cadherin-4 in blood serum" + "1-oleoylglycerophosphoethanolamine measurement" "X-linked spastic paraplegia type 16" + "level of cadherin-4 in blood serum" "level of EF-hand domain-containing protein D1 in blood serum" "beta-hexosaminidase subunit beta" "X-25802 measurement" "obsolete_Hearing Loss, Noise-Induced" "level of visual system homeobox 1 in blood serum" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "phosphatidylcholine 36:0 measurement" "MIA Paca-2" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "interleukin-1 beta (Homo sapiens)" "glutamine metabolic process" "replication initiator 1 measurement" "thiopurine S-methyltransferase deficiency" "neurotrophin-3 measurement" - "level of islet cell autoantigen 1 in blood" "Ectodermal dysplasia - sensorineural deafness" + "level of islet cell autoantigen 1 in blood" "Hypothermia" "focal dystonia" "isolated focal cortical dysplasia type Ic" @@ -3491,10 +3491,10 @@ "Speech apraxia" "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "endophilin-B2" + "4-acetamidobenzoate measurement" "ventricular enlargement measurement"@en "diglyceride measurement"@en "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" - "4-acetamidobenzoate measurement" "pathogenicity" "level of proline-rich AKT1 substrate 1 in blood serum" "Rectal Tubular Adenoma" @@ -3692,9 +3692,9 @@ "Multiple sclerosis - ichthyosis - factor VIII deficiency" "ethanolamine kinase 1" "corneal resistance factor" + "drug-induced pemphigus" "phosphotriesterase-related protein" "tiling array" - "drug-induced pemphigus" "level of sorting nexin-5 in blood serum" "R9" "obsolete_distal trisomy 14q" @@ -3743,10 +3743,10 @@ "metastatic malignant neoplasm in the spinal cord" "obsolete_X-linked immunoneurologic disorder" "PR domain zinc finger protein 4 measurement" - "obsolete_eyelids malposition disorder" "IM-95" "FL.04 end of flowering stage" "trichinosis" + "obsolete_eyelids malposition disorder" "neurodegenerative disease" "histone-lysine N-methyltransferase KMT5C" "rho GDP-dissociation inhibitor 2 measurement" @@ -3776,12 +3776,12 @@ "Bile acid synthesis defect with cholestasis and malabsorption" "Macroptilium atropurpureum" "dematin" - "carboxypeptidase D" "obsolete_isolated congenital ectropion" + "carboxypeptidase D" + "Anonychia - onychodystrophy" "S2" "agnosia" "level of triglyceride in blood serum" - "Anonychia - onychodystrophy" "diacylglycerol 36:4 measurement" "TAmC-Seq" "inferior colliculus" @@ -3802,18 +3802,18 @@ "retinoid-inducible serine carboxypeptidase" "COLO 792" "Abnormal circulating lipid concentration" + "obsolete_Micrencephaly - corpus callosum agenesis - abnormal genitalia" + "obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "Juvenile Osteochondrosis" "obsolete_sepsis" "inclusion body myositis" "major salivary gland" "level of coiled-coil domain-containing protein 24 in blood serum" "androstenediol (3beta,17beta) disulfate (1) measurement" - "obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly" + "N-acetyl-isoputreanine measurement" "inter-alpha-trypsin inhibitor heavy chain h4 measurement" "thyrotropin subunit beta" "level of thiamin pyrophosphokinase 1 in blood serum" - "obsolete_Micrencephaly - corpus callosum agenesis - abnormal genitalia" - "N-acetyl-isoputreanine measurement" "Hypogonadotropic hypogonadism" "Roberts-SC phocomelia syndrome" "obsolete_neuronal ceroid lipofuscinosis" @@ -3866,11 +3866,11 @@ "obsolete_pseudopseudohypoparathyroidism" "dorsal root ganglia homeobox protein" "amelogenesis imperfecta type 1G" - "O-[(4Z)-decenoyl]carnitine" "Brachydactyly - arterial hypertension" + "O-[(4Z)-decenoyl]carnitine" "obsolete_double outlet right ventricle with subpulmonary ventricular septal defect" - "X-22508 measurement" "HNT-34" + "X-22508 measurement" "obsolete acrodermatitis continua suppurativa of Hallopeau" "glycoproteinosis" "GM17295" @@ -3955,7 +3955,6 @@ "Penile Fibromatosis" "Disorder of pyridoxine metabolism" "eicosenoate (20:1) measurement" - "obsolete_spinocerebellar ataxia type 15/16" "protein Largen" "obsolete_autosomal recessive spastic paraplegia type 66" "level of NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial in blood serum" @@ -3963,6 +3962,7 @@ "2-hydroxyhexadecanoate" "thymic neuroendocrine tumor" "tubulin beta-3 chain" + "obsolete_spinocerebellar ataxia type 15/16" "spermatogenic failure 1" "obsolete_hemochromatosis type 3" "host cell cytoplasm" @@ -3989,10 +3989,10 @@ "Synechococcus sp. CC9311" "interleukin 17 receptor D measurement" "Rickets" + "obsolete_ring chromosome 17" "piperidin-2-one" "partial duplication of the long arm of chromosome 3" "extracellular matrix" - "obsolete_ring chromosome 17" "lymphocyte count" "circulating alpha-Klotho measurement"@en "Golgi transport complex" @@ -4002,13 +4002,13 @@ "Listeria monocytogenes serotype 4b str. F2365" "tuberculoid leprosy" "trans-2-hexenoylglycine measurement" + "MERRF" "uterine corpus adenosarcoma" "Isolated cytochrome C oxidase deficiency" "abnormal paneth cell measurement" "mucin-16" "contracture" "Rho-related GTP-binding protein RhoQ" - "MERRF" "hereditary kidney oncocytoma" "myosin regulatory light chain 11" "vimentin-type intermediate filament-associated coiled-coil protein" @@ -4159,14 +4159,14 @@ "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" "obsolete_Ruvalcaba syndrome" "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" - "obsolete_multiple endocrine neoplasia type 2A" "oxoadipic acid measurement" + "Bell's palsy" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" - "Bell's palsy" "Anterior synechiae of the anterior chamber" "phospholipase A and acyltransferase 3" "phospholipase B-like 1 measurement" + "obsolete_multiple endocrine neoplasia type 2A" "obsolete_ganglion" "lipocalin-1" "spiramide" @@ -4176,9 +4176,9 @@ "interferon alpha-5 measurement" "cytidine measurement" "mucinous cystadenoma" - "obsolete_Chudley-Lowry-Hoar syndrome" "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" "level of eukaryotic translation initiation factor 2-alpha kinase 3 in blood" + "obsolete_Chudley-Lowry-Hoar syndrome" "crystal cell" "testican-2 measurement" "intestinal cancer" @@ -4324,8 +4324,8 @@ "X-linked intellectual disability, Sutherland-Haan type" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "obsolete_snowflake vitreoretinal degeneration" - "Dyspareunia" "ferulylglycine (2) measurement" + "Dyspareunia" "RNA-binding protein 24" "posterior thigh muscle volume"@en "Sheldon-hall syndrome" @@ -4457,9 +4457,9 @@ "functional brain measurement" "naproxen" "Congenital tracheomalacia" + "Primary glaucoma" "olfactory nerve" "level of prosaposin receptor GPR37 in blood" - "Primary glaucoma" "level of N-stearoyltaurine in blood serum" "familial episodic pain syndrome with predominantly lower limb involvement" "interleukin-17 receptor E" @@ -4467,8 +4467,8 @@ "hypertrophic cardiomyopathy 20" "TARDIS" "obsolete_intermediate anorectal malformation" - "hidrotic ectodermal dysplasia, Christianson-Fourie type" "nucleolus" + "hidrotic ectodermal dysplasia, Christianson-Fourie type" "EH domain-binding protein 1" "tapasin" "level of caspase-5 in blood serum" @@ -4503,8 +4503,8 @@ "endothelial differentiation-related factor 1 measurement" "MGAT2-congenital disorder of glycosylation" "connective tissue neoplasm" - "S49" "obsolete_euryblepharon" + "S49" "AIDS related complex" "transmembrane protease serine 11D" "diacylglycerol 36:5 measurement" @@ -4521,12 +4521,12 @@ "GM08436" "vesicle-fusing ATPase measurement" "adrenodoxin, mitochondrial" - "malignant non-dysgerminomatous germ cell tumor of ovary" "obsolete_familial Dupuytren contracture" + "malignant non-dysgerminomatous germ cell tumor of ovary" "obsolete_lateral cord neuron" + "level of tyrosine-protein kinase transmembrane receptor ROR1 in blood" "RING finger protein 24" "interleukin-17 receptor A" - "level of tyrosine-protein kinase transmembrane receptor ROR1 in blood" "glutathione" "protein c deficiency" "testicular mixed germ cell tumor"@en @@ -4579,8 +4579,8 @@ "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "GM17811" "obsolete_X-linked neurodegenerative syndrome, Bertini type" + "GM17811" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4603,8 +4603,8 @@ "central retinal vein" "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" - "developmental and epileptic encephalopathy 97" "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" + "developmental and epileptic encephalopathy 97" "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" @@ -4631,10 +4631,10 @@ "Charcot-Marie-Tooth disease recessive intermediate B" "obsolete_glaucoma" "Skin vesicle" + "Theiler stage 12" "level of voltage-gated potassium channel KCNC4 in blood" "polydactyly of an index finger" "level of insulin-like growth factor-binding protein complex acid labile chain in blood serum" - "Theiler stage 12" "linker for activation of T-cells family member 1" "level of chymotrypsinogen B in blood serum" "thoracic segment of trunk" @@ -4712,12 +4712,12 @@ "combined oxidative phosphorylation defect type 8" "lepromatous leprosy" "Capsella rubella" - "N-docosanoyl taurine measurement" "sensory nervous system primordium" "metalloreductase STEAP4" "3-hydroxy-5-cholestenoic acid measurement" "Oliver syndrome" "mitochondrial Rho GTPase 1" + "N-docosanoyl taurine measurement" "sleep" "familial cold autoinflammatory syndrome" "vitelline membrane outer layer protein 1" @@ -4767,10 +4767,10 @@ "high mobility group nucleosome-binding domain-containing protein 3" "level of inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 in blood serum" "uterine body mixed cancer" + "MODY" "oxalic acid measurement" "level of N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 in blood serum" "follicular mucinosis" - "MODY" "kidney oncocytoma" "myoneurin" "Huntington disease-like 2" @@ -4819,8 +4819,8 @@ "obsolete_accumbens nucleus" "lissencephaly type 3" "CD8-positive T-lymphocyte count" - "malonic aciduria" "ligament" + "malonic aciduria" "ciliary dyskinesia, primary, 50" "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "MORF4 family-associated protein 1-like 1" @@ -4841,9 +4841,9 @@ "Bardet-Biedl syndrome 15" "vinculin measurement" "retinaldehyde-binding protein 1 measurement" - "ephrin-A3 measurement" "cortisone reductase deficiency" "obsolete progressive cerebello-cerebral atrophy" + "ephrin-A3 measurement" "programmed death-ligand 1 measurement" "obsolete inherited tremor disorder" "Galloway-Mowat syndrome" @@ -4877,10 +4877,10 @@ "obsolete_selective pituitary resistance to thyroid hormone" "osteopenia-intellectual disability-sparse hair syndrome" "pyridoxal phosphate homeostasis protein PLPBP" + "obsolete_mucoepidermoid tumor" "Yamato-SS"@en "colorectal health" "2p21 microdeletion syndrome without cystinuria" - "obsolete_mucoepidermoid tumor" "Ovarian Granulosa Cell Tumor" "stem internode" "obsolete primary renal tubular acidosis" @@ -4889,12 +4889,12 @@ "homeostatic process" "Autosomal recessive spastic ataxia - optic atrophy - dysarthria" "46,XY disorder of sex development due to impaired androgen production" - "corpus uteri neoplasm" - "obsolete_response to homoharringtonine" "obsolete_Autosomal recessive chorioretinopathy-microcephaly" - "jasmonic acid" "obsolete_dihydropteridine reductase deficiency" "firmicutes seropositivity" + "corpus uteri neoplasm" + "obsolete_response to homoharringtonine" + "jasmonic acid" "cocaine abuse" "2-linoleoyl-sn-glycero-3-phosphocholine" "hepatitis, fulminant viral, susceptibility to" @@ -4932,8 +4932,8 @@ "Lactobacillus plantarum" "obsolete_autosomal dominant cerebellar ataxia, deafness and narcolepsy" "Preaxial polydactyly of toes, unilateral" - "obsolete_Juberg-Marsidi syndrome" "level of chymotrypsin-like elastase family member 3A in blood" + "obsolete_Juberg-Marsidi syndrome" "obsolete_Ehlers-Danlos syndrome type 7A" "tgf-beta receptor type-2 measurement" "islet cell tumor" @@ -5002,6 +5002,7 @@ "Eukaryota" "RNA-binding protein 28 measurement" "WSU-DLCL2" + "eye morphology measurement" "body fat distribution" "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9" "X-linked parkinsonism-spasticity syndrome" @@ -5009,7 +5010,6 @@ "autoimmune atherosclerosis" "sodium 8-bromo-3',5'-cyclic GMP" "receptor-type tyrosine-protein phosphatase N2" - "eye morphology measurement" "hormone replacement therapy" "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects" "Methyl-seq" @@ -5040,8 +5040,8 @@ "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "protein HEXIM2" "Echinochloa glabrescens" - "docosapentaenoate (n6 DPA; 22:5n6) measurement" "BTB/POZ domain-containing protein KCTD6" + "docosapentaenoate (n6 DPA; 22:5n6) measurement" "phosphatidylcholine 38:7 measurement" "obsolete_neurofibromatosis" "T1 (174 x CEM.T1) cell" @@ -5148,13 +5148,13 @@ "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "obsolete_familial atrial myxoma" - "obsolete_monocytopenia with susceptibility to infections" "level of palmitoyl-protein thioesterase 1 in blood serum" + "obsolete_monocytopenia with susceptibility to infections" "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "optic cup area measurement" "galactosylceramidase activity" - "Zymoseptoria tritici" "SDS-PAGE" + "Zymoseptoria tritici" "hyperemia" "potassium measurement" "bacillus phage virus seropositivity" @@ -5211,9 +5211,9 @@ "oxidized purine nucleoside triphosphate hydrolase" "epidermolysis bullosa simplex 2B, generalized intermediate" "level of death-inducer obliterator 1 in blood serum" + "visceral:total adipose tissue ratio" "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase" "level of phosphoglycerate kinase 2 in blood serum" - "visceral:total adipose tissue ratio" "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" @@ -5271,8 +5271,8 @@ "ferredoxin-2, mitochondrial" "obsolete_otopalatodigital syndrome type 1" "Congenital anonychia" - "deafness dystonia syndrome" "obsolete_embryonic leading edge cell" + "deafness dystonia syndrome" "level of protein XRP2 in blood" "GM20431" "somatic genotype" @@ -5293,9 +5293,9 @@ "partial duplication of the long arm of chromosome 14" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2O" "obsolete_X-linked lethal multiple pterygium syndrome" - "Brachydactyly - preaxial hallux varus" "campylobacter phage virus seropositivity" "bladder leiomyoma" + "Brachydactyly - preaxial hallux varus" "trimethylaminuria" "protein CYR61 measurement" "X-22519 measurement" @@ -5322,8 +5322,8 @@ "Abnormal erythrocyte morphology" "dilated cardiomyopathy 1GG" "obsolete_fragile X syndrome" - "protein LEG1 homolog" "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" + "protein LEG1 homolog" "level of alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase in blood serum" "kidney derived cell line" "10p11.21p12.31 microdeletion syndrome" @@ -5368,11 +5368,11 @@ "Poppelsdorf ecotype" "obsolete_Moyamoya disease" "Congenital muscular dystrophy due to dystroglycanopathy" - "triacylglycerol 56:8 measurement"@en "organic solute transporter subunit beta" "breast invasive ductal carcinoma cell" "FL.00 first flower(s) open stage" "2-hydroxyacid oxidase 1" + "triacylglycerol 56:8 measurement"@en "obsolete_coronary artery" "obsolete_Bardet-Biedl syndrome" "RCC-4 cell" @@ -5393,8 +5393,8 @@ "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "multi fate stem cell" "obsolete_perinatal lethal hypophosphatasia" - "punctate palmoplantar keratoderma type III" "Psoas abscess" + "punctate palmoplantar keratoderma type III" "endothelin-2 measurement" "vanillylmandelate" "occipital lobe" @@ -5427,8 +5427,8 @@ "protein LAP4" "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" - "Burkholderia thailandensis" "risk-taking behaviour" + "Burkholderia thailandensis" "cirrhosis of liver" "infectious ectromelia" "cutaneous focal mucinosis" @@ -5445,10 +5445,10 @@ "secreted frizzled-related protein 2" "Hs 675.T" "Yersinia infectious disease" - "Vero" "thrombomodulin measurement" - "vasculature of retina" + "Vero" "floor plate of neural tube" + "vasculature of retina" "mononuclear odontoclast" "neuroocular syndrome" "2-hydroxyadipate(2-)" @@ -5505,11 +5505,11 @@ "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" "obsolete Dysautonomia" "Finnish upper limb-onset distal myopathy" + "fetuin-B measurement" "level of pepsin A-4 in blood" "phenylalanine--tRNA ligase, mitochondrial" "L428" "level of adaptin ear-binding coat-associated protein 2 in blood" - "fetuin-B measurement" "C-type lectin domain family 4 member E measurement" "Escherichia coli UTI89" "level of intersectin-1 in blood serum" @@ -5649,9 +5649,9 @@ "septin-9" "odontogenesis" "Neoplasm of the lung" + "thyrotropin-releasing hormone measurement" "putative uncharacterized protein ANP32CP" "Bacillus weihenstephanensis" - "thyrotropin-releasing hormone measurement" "HCC0060" "obsolete_anther" "ATP-dependent DNA helicase Q1" @@ -5682,11 +5682,11 @@ "diabetic cardiomyopathy" "response to interferon" "Leber congenital amaurosis 2" - "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "MethylCap-Seq" "future brain" - "hypospadias" + "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "Melospiza melodia" + "hypospadias" "isolated congenital hypoglossia/aglossia" "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "level of 9,10-dihydroxyoctadeca-12,15-dienoic acid in blood plasma" @@ -5707,9 +5707,9 @@ "obsolete_Gaucher disease" "Postaxial polydactyly of toes, bilateral" "gastrula 80%-epiboly" + "C-X-C motif chemokine 9 measurement" "hydroxyhexadecanoylcarnitine measurement"@en "dickkopf‐related protein 1 measurement"@en - "C-X-C motif chemokine 9 measurement" "level of carcinoembryonic antigen-related cell adhesion molecule 5 in blood" "DKMG" "calpain I measurement" @@ -5782,8 +5782,8 @@ "aorta" "developmental and epileptic encephalopathy, 45" "sterol biosynthesis disorder" - "level of lamin-B2 in blood serum" "level of cAMP-responsive element modulator in blood serum" + "level of lamin-B2 in blood serum" "Naumovozyma" "placenta cancer" "congenital ectropion uveae" @@ -5820,10 +5820,10 @@ "Arabidopsis arenosa x Arabidopsis thaliana" "rG4-seq" "Rap1 GTPase-activating protein 1" - "obsolete_osteochondrosis of genetic origin" "coiled-coil domain-containing protein 103" "level of CREB/ATF bZIP transcription factor in blood" "peroxisomal NADH pyrophosphatase NUDT12 measurement" + "obsolete_osteochondrosis of genetic origin" "N(2),N(2)-dimethylguanosine" "level of lengsin in blood serum" "level of mediator of RNA polymerase II transcription subunit 18 in blood" @@ -5857,8 +5857,8 @@ "blepharophimosis-impaired intellectual development syndrome" "Lacrimation abnormality" "Jeffries-Lakhani neurodevelopmental syndrome" - "level of protein Red in blood serum" "childhood T lymphoblastic lymphoma" + "level of protein Red in blood serum" "Agrotis ipsilon" "DMS153" "congenital" @@ -5941,13 +5941,13 @@ "adaptin ear-binding coat-associated protein 2" "obsolete leukoencephalopathy with vanishing white matter" "Myeloid maturation arrest" + "dibutyl phthalate measurement"@en "level of GTP-binding protein Di-Ras1 in blood serum" "pyruvate dehydrogenase E1-beta deficiency" "ribonuclease P protein subunit p30" "obsolete_paraventricular organ" - "dibutyl phthalate measurement"@en - "level of 6-phosphogluconolactonase in blood serum" "intra-individual reaction time variability measurement" + "level of 6-phosphogluconolactonase in blood serum" "level of 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol in blood serum" "polyunsaturated fatty acid 5-lipoxygenase" "opioid-binding protein/cell adhesion molecule measurement" @@ -5996,6 +5996,7 @@ "obsolete_pancreatic beta cell agenesis with neonatal diabetes mellitus" "CD94-positive Ly49CI-positive natural killer cell, mouse" "coinfection" + "multifocal choroiditis" "laurate 12:0 measurement" "level of dehydrogenase/reductase SDR family member 9 in blood serum" "White eyebrow" @@ -6012,8 +6013,8 @@ "level of adhesion G protein-coupled receptor L3 in blood serum" "X-linked corneal dermoid" "Bilateral ptosis" - "middle ear adenocarcinoma" "pregnancy-specific beta-1-glycoprotein 8 measurement" + "middle ear adenocarcinoma" "level of core-binding factor subunit beta in blood serum" "grpE protein homolog 1, mitochondrial measurement" "GM17140" @@ -6029,14 +6030,14 @@ "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" "sensory system" "plant growth regulator" - "Hypereosinophilic syndrome" "dystonia 31" + "Hypereosinophilic syndrome" "2-aminoadipic 2-oxoadipic aciduria" "Cystic Nephroma" - "level of musculoskeletal embryonic nuclear protein 1 in blood serum" "distal portion of anterior interventricular branch of left coronary artery" - "level of glycine cleavage system H protein, mitochondrial in blood serum" + "level of musculoskeletal embryonic nuclear protein 1 in blood serum" "intrinsic cardiomyopathy" + "level of glycine cleavage system H protein, mitochondrial in blood serum" "Keipert syndrome" "Churg-Strauss syndrome" "cervical thymus" @@ -6049,18 +6050,18 @@ "obsolete_Sotos syndrome" "obsolete PIK3CA-related overgrowth syndrome" "adrenomyodystrophy" + "obsolete_cerebrotendinous xanthomatosis" + "1-oleoylglycerol (18:1) measurement" "Gossypium hirsutum" "NT-1" "embryonic labial sensory complex" - "1-oleoylglycerol (18:1) measurement" - "insulin gene enhancer protein ISL-1" - "obsolete_cerebrotendinous xanthomatosis" "HSD10 disease" + "insulin gene enhancer protein ISL-1" + "trichostrongylosis" "KARPAS-620" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" "level of actin-related protein 2/3 complex subunit 3 in blood serum" "level of Phosphatidylinositol (18:0_18:1) in blood serum" - "trichostrongylosis" "Oncorhynchus kisutch" "obsolete_Barth syndrome" "interleukin-1 receptor-associated kinase 1" @@ -6087,12 +6088,12 @@ "CD103-negative, langerin-positive lymph node dendritic cell" "Haliotis asinina" "GM12751" + "TC-Seq" "Nager acrofacial dysostosis" "level of 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol in blood serum" "level of CD99 molecule-like protein 2 in blood" "myopathy, congenital, with respiratory insufficiency and bone fractures" "Caenorhabditis" - "TC-Seq" "betaine--homocysteine S-methyltransferase 2" "chronic lung disease" "level of neurexin-3-alpha in blood" @@ -6128,9 +6129,9 @@ "myocyte-specific enhancer factor 2C measurement" "cerebellar ataxia, brain abnormalities, and cardiac conduction defects" "obsolete embryonic esophageal ganglion" + "Pubic Symphysis Diastasis" "familial vesicoureteral reflux" "reactive cutaneous fibrous lesion" - "Pubic Symphysis Diastasis" "enhancer of rudimentary homolog measurement" "TSH producing pituitary tumor" "phosphate ion" @@ -6155,12 +6156,12 @@ "Cerebral visual impairment" "total iron binding capacity" "(lyso)-N-acylphosphatidylethanolamine lipase" + "obsolete_secondary dysgenetic glaucoma" + "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "UV excision repair protein RAD23 homolog B" "benign male reproductive system neoplasm" "autosomal recessive omodysplasia" - "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "Prominent forehead" - "obsolete_secondary dysgenetic glaucoma" "N-lignoceroyl taurine measurement" "Flexion contracture" "hepatosplenic T-cell lymphoma" @@ -6182,8 +6183,8 @@ "level of calcyclin-binding protein in blood serum" "obsolete_ovarian hyperstimulation syndrome" "transcription regulator protein BACH1" - "gamma-aminobutyric acid receptor-associated protein-like 1 measurement" "distal myopathy" + "gamma-aminobutyric acid receptor-associated protein-like 1 measurement" "X-22520 measurement" "thrombin-antithrombin complex measurement" "obsolete_abdominal skin" @@ -6214,11 +6215,11 @@ "obsolete_granulosa cell layer" "hemorrhagic duodenitis" "intact parathyroid hormone measurement" - "enrichment protocol" "Morton Neuroma" + "enrichment protocol" "lymphedema" - "spastic cerebral palsy" "level of melanoma-associated antigen 8 in blood serum" + "spastic cerebral palsy" "level of epidermal growth factor receptor kinase substrate 8-like protein 3 in blood serum" "ciliogenesis-associated TTC17-interacting protein" "level of homeobox protein MSX-2 in blood serum" @@ -6334,8 +6335,8 @@ "p-acetamidophenylglucuronide measurement" "fatty acid synthase" "obsolete_ring chromosome 20" - "autoimmune hemolytic anemia, cold type" "self rated health" + "autoimmune hemolytic anemia, cold type" "level of sulfotransferase 2A1 in blood serum" "Keppen-Lubinsky syndrome" "level of ubiquilin-4 in blood serum" @@ -6375,11 +6376,11 @@ "partial duplication of the long arm of chromosome 6" "Chronic Obstructive Asthma" "obsolete_Leydig cell hypoplasia due to partial LH resistance" + "obsolete_axial mesodermal dysplasia spectrum" + "coiled-coil domain-containing protein 134 measurement" "trunk bone mineral density"@en "Nail dystrophy" - "coiled-coil domain-containing protein 134 measurement" "level of RNA-binding protein Nova-1 in blood serum" - "obsolete_axial mesodermal dysplasia spectrum" "ectodermal dysplasia-sensorineural deafness syndrome" "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta" "saturated fatty acids to total fatty acids percentage " @@ -6556,8 +6557,8 @@ "level of THO complex subunit 1 in blood serum" "Cenani-Lenz syndactyly syndrome" "Trigonocephaly" - "Hyperornithinemia-hyperammonemia-homocitrullinuria" "Skeletal dysplasia - intellectual disability" + "Hyperornithinemia-hyperammonemia-homocitrullinuria" "Autosomal dominant spastic paraplegia type 41" "Rare constitutional anemia" "isolated congenitally uncorrected transposition of the great arteries" @@ -6583,8 +6584,8 @@ "obsolete_decidua basalis" "Ductal or Ductular Proliferation" "Chylothorax" - "autosomal recessive nonsyndromic hearing loss 18A" "chymotrypsin-like elastase family member 2A" + "autosomal recessive nonsyndromic hearing loss 18A" "disintegrin and metalloproteinase domain-containing protein 11" "phosphatidylcholine ether measurement"@en "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" @@ -6606,8 +6607,8 @@ "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" "facial pigmentation measurement" - "heat shock protein beta-6" "obsolete_Congenital primary lymphedema" + "heat shock protein beta-6" "testicular carcinoma" "FG syndrome 2" "level of cyclin-dependent kinase-like 2 in blood serum" @@ -6666,8 +6667,8 @@ "virgin" "Neonatal hypotonia" "dihydropyrimidinase-related protein 2" - "diaphanospondylodysostosis" "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma" + "diaphanospondylodysostosis" "chronic myelogenous leukemia cell line" "Upper limb spasticity" "4-hydroxychlorothalonil measurement" @@ -6699,15 +6700,15 @@ "brassinazole" "obsolete_keratosis follicularis spinulosa decalvans" "diazinon measurement"@en - "obsolete_caudal tuberal nucleus" "intellectual disability, autosomal dominant 2" + "obsolete_caudal tuberal nucleus" "conducting system of heart" "external ear cancer" "glomerular endothelium" "Rare genetic deafness" "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" - "osteomodulin measurement" "serotonin" + "osteomodulin measurement" "protein Wnt-5b" "level of ubiquitin-conjugating enzyme E2 Z in blood serum" "Nasal polyposis" @@ -6846,17 +6847,17 @@ "erucic acid" "pulmonary aspergillosis" "ephrin type-B receptor 3 measurement" - "Autosomal recessive cerebellar ataxia - blindness - deafness" "MAX gene-associated protein" "childhood medulloblastoma" - "diacylglycerol 38:5 measurement" + "Autosomal recessive cerebellar ataxia - blindness - deafness" "GM12760" + "diacylglycerol 38:5 measurement" "CPT-seq" "angiographic measurement" "HUVEC cell line" "SKGT4" - "level of campesterol 3-beta-D-glucoside in blood serum" "coiled-coil domain-containing protein 24" + "level of campesterol 3-beta-D-glucoside in blood serum" "myopathy, congenital proximal, with minicore lesions" "Caenorhabditis briggsae" "TCC" @@ -7014,8 +7015,8 @@ "ovarian sex cord-stromal tumor" "matrix extracellular phosphoglycoprotein measurement" "atypical glycine encephalopathy" - "obsolete_gastric tubular adenocarcinoma" "level of cytochrome c oxidase subunit 7A1, mitochondrial in blood serum" + "obsolete_gastric tubular adenocarcinoma" "level of U8 snoRNA-decapping enzyme in blood serum" "myomesin-2 measurement" "alcohol dehydrogenase 1A" @@ -7193,9 +7194,9 @@ "PCARE-related retinopathy" "bladder signet ring cell adenocarcinoma" "cancer aggressiveness measurement" - "obsolete_Familial aortic dissection" "glioma susceptibility 2" "myeloid leukemia factor 1" + "obsolete_Familial aortic dissection" "haemophilus influenzae seropositivity" "spermatogenic failure 51" "eukaryotic-type small ribosomal subunit protein uS11" @@ -7312,8 +7313,8 @@ "level of tryptase alpha/beta-1 in blood serum" "blood pressure change measurement" "obsolete_primary bone dysplasia with disorganized development of skeletal components" - "whole-brain volume" "eosinophilic promyelocyte" + "whole-brain volume" "Lesch-Nyhan syndrome" "Hepatic hemangioma" "SPARC-like protein 1 measurement" @@ -7346,8 +7347,8 @@ "desmoplastic/nodular medulloblastoma" "CB205" "cerulean cataract" - "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" "coiled-coil domain-containing protein 28A" + "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" "receptor-type tyrosine-protein phosphatase R" "obsolete_Bruck syndrome" "gestational choriocarcinoma" @@ -7384,10 +7385,10 @@ "neonatal period electroclinical syndrome" "AP-2 complex subunit alpha-2" "obsolete_encephalopathy due to GLUT1 deficiency" - "Langerhans cell sarcoma" "ALS2-related motor neuron disease" "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8" "South Korea" + "Langerhans cell sarcoma" "level of protein FAM163B in blood serum" "level of selenoprotein M in blood serum" "RICC-seq" @@ -7510,9 +7511,9 @@ "Burkholderia cepacia" "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Myopathy with eye involvement" + "Autosomal recessive cerebellar ataxia - saccadic intrusion" "obsolete_epithalamus" "paracetamol" - "Autosomal recessive cerebellar ataxia - saccadic intrusion" "thymocyte nuclear protein 1 measurement" "CS57790" "nucleolar protein 16" @@ -7535,12 +7536,12 @@ "obsolete_mulibrey nanism" "Salmonella enterica subsp. enterica serovar Muenchen" "Ovarian Steroid Cell Tumor" - "obsolete_disorder of sialic acid metabolism" "level of endophilin-A3 in blood" "Sensorimotor neuropathy" - "homocysteine measurement" + "obsolete_disorder of sialic acid metabolism" "osteopetrosis-associated transmembrane protein 1" "infant" + "homocysteine measurement" "whole plant fruit formation stage 30 to 50%" "triacylglycerol 58:11 measurement"@en "rhophilin-2 measurement" @@ -7626,11 +7627,11 @@ "fallopian tube leiomyoma" "bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial" "membrane-associated phosphatidylinositol transfer protein 3" - "obsolete_maternal uniparental disomy of chromosome 13" "developmental delay with variable intellectual disability and dysmorphic facies" + "obsolete_maternal uniparental disomy of chromosome 13" "semaphorin-5A measurement" - "arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio"@en "inactive serine protease RAMP" + "arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio"@en "Lower limb undergrowth" "Proteus-like syndrome" "ependymoma" @@ -7688,13 +7689,13 @@ "level of SH2 domain-containing adapter protein D in blood" "Cholecystitis" "Bazex-Dupré-Christol syndrome" - "ribonuclease 4 measurement" + "Bardet-Biedl syndrome 1" "level of sorbin and SH3 domain-containing protein 1 in blood" "level of AP-2 complex subunit beta in blood" "familial expansile osteolysis" - "Bardet-Biedl syndrome 1" "Theiler stage 16" "obsolete syndromic hypothyroidism" + "ribonuclease 4 measurement" "obsolete hereditary isolated aplastic anemia" "N-palmitoylglycine measurement" "pseudohypoparathyroidism type 1A" @@ -7715,14 +7716,14 @@ "NKL"@en "level of SAFB-like transcription modulator in blood serum" "GTP-binding protein Di-Ras1" - "craniofacial dysplasia - osteopenia syndrome" "obsolete_proximal renal tubular acidosis" + "craniofacial dysplasia - osteopenia syndrome" "type II hypersensitivity reaction disease" "level of codanin-1 in blood" "caudal duplication" + "Ankyloblepharon - ectodermal defects - cleft lip/palate" "protein jagged-2 measurement" "platelet glycoprotein 4 measurement" - "Ankyloblepharon - ectodermal defects - cleft lip/palate" "hereditary poikiloderma" "PDZ domain-containing protein 7" "level of cell cycle and apoptosis regulator protein 2 in blood" @@ -7854,20 +7855,20 @@ "keratin, type I cytoskeletal 14" "n-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 measurement" "obsolete_combined dystonia" - "pulmonary coin lesion" "2-(dimethylamino) guanosine measurement" + "pulmonary coin lesion" "cervical artery dissection" - "theophylline" "Anterior hypopituitarism" + "theophylline" "spastic paraplegia-nephritis-deafness syndrome" "level of dihydropyrimidinase-related protein 5 in blood serum" "GTP-binding protein Di-Ras3" "low-density lipoprotein receptor class A domain-containing protein 4" "heart cancer" + "integral membrane protein 2C measurement" "skin disorder caused by infection" "urethral syndrome" "transcription factor HES-3" - "integral membrane protein 2C measurement" "level of von Willebrand factor A domain-containing protein 2 in blood serum" "syncytiotrophoblast" "level of 40S ribosomal protein S12 in blood serum" @@ -7897,9 +7898,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "soluble transferrin receptor measurement" "level of prominin-1 in blood serum" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -7907,8 +7908,8 @@ "X-12822 measurement" "spermatogenic failure 43" "Beta-thalassemia" - "brother of CDO measurement" "Ullrich congenital muscular dystrophy 1C" + "brother of CDO measurement" "Childhood onset sensorineural hearing impairment" "N,N-dimethylglycine" "congenital sucrase-isomaltase deficiency with starch and lactose intolerance" @@ -7922,8 +7923,8 @@ "transcription factor 24" "obsolete isolated diffuse palmoplantar keratoderma" "estrogen receptor status" - "meninx" "glomuvenous malformation" + "meninx" "Granuloma" "gastrula 50%-epiboly" "Aeromonas hydrophila infection" @@ -7948,8 +7949,8 @@ "sn-glycerol 3-phosphate" "small nuclear ribonucleoprotein F measurement" "Ovarian Mixed Epithelial Tumor" - "Blood Cell Count with Differential" "hereditary spastic paraplegia 11" + "Blood Cell Count with Differential" "level of MIT domain-containing protein 1 in blood serum" "Crassostrea virginica" "glucose-dependent insulinotropic peptide measurement" @@ -8012,8 +8013,8 @@ "Lactobacillus helveticus CNRZ32" "thyroid ectopia" "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" - "Guttmacher syndrome" "Duodenal Gastrin-Producing Neuroendocrine Tumor" + "Guttmacher syndrome" "dental pulp exposure" "phosphatidylcholine O-32:2" "disintegrin and metalloproteinase domain-containing protein 15" @@ -8079,20 +8080,20 @@ "3-hydroxyanthranilic acid measurement"@en "opportunistic mycosis" "otoraplin" - "Eosinophilic Myelocyte Count" "Drosophila developmental tissue" "isolated hereditary congenital facial paralysis" "symphalangism" "embryonic day 12.5" + "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" + "triacylglycerol 49:1 measurement" "tissue factor measurement"@en "tonsillectomy risk measurement" - "triacylglycerol 49:1 measurement" "disease susceptibility" "postsynaptic density" - "obsolete symbiotic process mediated by secreted substance" "tumor necrosis factor alpha-induced protein 8" + "obsolete symbiotic process mediated by secreted substance" "Clinodactyly" "chromosome 10q23 deletion syndrome" "sperm-associated antigen 11A" @@ -8112,9 +8113,9 @@ "hematological toxicity" "acidic fibroblast growth factor intracellular-binding protein" "level of replication initiator 1 in blood serum" + "obsolete_partial deletion of the short arm of chromosome 6" "postpoliomyelitis syndrome" "level of tRNA wybutosine-synthesizing protein 5 in blood serum" - "obsolete_partial deletion of the short arm of chromosome 6" "dystonia 5" "thioredoxin-related transmembrane protein 1" "vascular disorder of penis" @@ -8152,8 +8153,8 @@ "eicosapentaenoate EPA; 20:5n3 measurement" "disorder of carbohydrate transmembrane transport and absorption" "Paralysis, Obstetric" - "Bencze syndrome" "anterior thigh muscle fat infiltration measurement"@en + "Bencze syndrome" "acquired prothrombin deficiency" "NCI-H2195" "apolipoprotein A-V measurement" @@ -8219,10 +8220,10 @@ "level of zinc finger protein GLI2 in blood" "urinary bladder inverted papilloma" "pectoral girdle" - "myotonic dystrophy" "Intestinal epithelial dysplasia" - "Fetal distress" + "myotonic dystrophy" "obsolete_alternating hemiplegia" + "Fetal distress" "3-hydroxyadipate measurement" "Worster-Drought syndrome" "amebic dysentery" @@ -8266,9 +8267,9 @@ "melanocyte protein Pmel 17" "level of peptidoglycan recognition protein 4 in blood serum" "small intestine enteropathy" - "same-sex sexual behavior" "level of kelch-like protein 41 in blood" "intestinal alkaline phosphatase" + "same-sex sexual behavior" "hypertrophic cardiomyopathy 9" "coumarin" "alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase" @@ -8426,8 +8427,8 @@ "HK-1"@en "escherichia coli discitis" "toll-interacting protein measurement" - "Hereditary persistence of fetal hemoglobin - beta-thalassemia" "COG8-congenital disorder of glycosylation" + "Hereditary persistence of fetal hemoglobin - beta-thalassemia" "level of cell division cycle protein 123 in blood" "congenital myopathy 22B, severe fetal" "aortic atherosclerosis" @@ -8437,9 +8438,9 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood serum" "level of talin rod domain-containing protein 1 in blood serum" "level of phospholipase A and acyltransferase 2 in blood serum" + "obsolete_progressive retinal dystrophy due to retinol transport defect" "hyperopia" "3-hydroxydecanoate measurement" - "obsolete_progressive retinal dystrophy due to retinol transport defect" "phosphatidylcholine diacyl C40:4 measurement" "osteocrin" "familial amyotrophic lateral sclerosis" @@ -8453,8 +8454,8 @@ "level of asporin in blood serum" "obsolete_cryptogenic late-onset epileptic spasms" "eicosenoyl sphingomyelin measurement" - "2-stearoyl-GPE (18:0) measurement" "Premature eruption of permanent teeth" + "2-stearoyl-GPE (18:0) measurement" "combined carcinoid and adenocarcinoma" "kynureninase measurement" "3-hydroxysebacate" @@ -8505,9 +8506,9 @@ "thyroid hormone metabolic process" "HCC3153" "cold-inducible RNA-binding protein" + "Borderline Ovarian Surface Epithelial-Stromal Tumor" "lateral cord glial cell" "obsolete autosomal recessive distal myopathy" - "Borderline Ovarian Surface Epithelial-Stromal Tumor" "vitamin D-dependent rickets, type 2" "nuclear pore complex protein Nup98-Nup96" "Streptococcus mutans" @@ -8548,10 +8549,10 @@ "pazopanib" "obsolete_pyruvate metabolism disorder" "5-hydroxy-2-methylpyridine sulfate measurement" - "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency" "multiple synostoses syndrome 2" "Beta-thalassemia with other manifestations" "level of serpin B8 in blood" + "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency" "level of M-phase phosphoprotein 8 in blood" "M-phase inducer phosphatase 2" "Short thumb" @@ -8583,8 +8584,8 @@ "MCCAR" "cadherin-related family member 1 measurement" "bilateral frontal polymicrogyria" - "obsolete_progressive non-infectious anterior vertebral fusion" "level of sarcoplasmic reticulum histidine-rich calcium-binding protein in blood serum" + "obsolete_progressive non-infectious anterior vertebral fusion" "distal tubule" "ichthyosis histrix, Lambert type" "epidemic louse-borne typhus" @@ -8629,10 +8630,10 @@ "protein kinase b alpha/beta/gamma measurement" "platelet glycoprotein VI measurement" "dourine" + "level of citron Rho-interacting kinase in blood" "skin disease caused by bacterial infection" "nephrogenic diabetes insipidus" "ADP-sugar pyrophosphatase" - "level of citron Rho-interacting kinase in blood" "head kidney" "infantile osteopetrosis with neuroaxonal dysplasia" "leiomodin-1" @@ -8723,8 +8724,8 @@ "syndromic X-linked intellectual disability Hedera type" "sperm-associated antigen 1" "Citrobacter rodentium" - "obsolete_Familial partial lipodystrophy associated with PPARG mutations" "trisomy 12p" + "obsolete_Familial partial lipodystrophy associated with PPARG mutations" "ES-D3" "anterolateral myocardial infarction" "nail" @@ -8733,8 +8734,8 @@ "avian influenza" "Short stature - craniofacial anomalies - genital hypoplasia" "CLN4B disease" - "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement" "Margaroyl-EA" + "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement" "UMI barcode" "obsolete_ulna metaphyseal dysplasia syndrome" "level of THAP domain-containing protein 2 in blood serum" @@ -8811,12 +8812,12 @@ "signal-regulatory protein gamma measurement" "obsolete_SSR4-CDG" "Pili torti - onychodysplasia" - "metabolite measurement" "ubiquitin-like modifier-activating enzyme ATG7 measurement" + "metabolite measurement" + "C-C motif chemokine 13 measurement" "3-hydroxyphenylacetic acid measurement"@en "level of Diacylglycerol (16:0_18:1) in blood serum" "Drosophila component" - "C-C motif chemokine 13 measurement" "Estimated Platelets Measurement" "nuclear nucleic acid-binding protein C1D" "obsolete_response to paliperidone" @@ -8849,8 +8850,8 @@ "protein disulfide-isomerase TXNDC10" "progressive pseudorheumatoid arthropathy of childhood" "obsolete_fructose-1,6-bisphosphatase deficiency" - "clinical treatment" "acute myeloid leukemia, t(11;19)(q23.3;p13.3)" + "clinical treatment" "MGC-803" "T4b tumor stage" "lethal occipital encephalocele-skeletal dysplasia syndrome" @@ -8864,15 +8865,15 @@ "immunoglobulin complex" "level of microphthalmia-associated transcription factor in blood serum" "thiamine-responsive dysfunction syndrome" - "choroid plexus volume measurement"@en "cytochrome P450 2C19" "differentiated" "hyperhomocysteinemia" + "choroid plexus volume measurement"@en "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" - "sperm-associated antigen 11B" "obsolete_partial deletion of the short arm of chromosome 2" + "sperm-associated antigen 11B" "obsolete Heimler syndrome" "OCI-LY3" "ABCA4-related retinopathy" @@ -8934,8 +8935,8 @@ "NCI-H2228" "congenital diarrhea" "skin of pelvis" - "Receptive language delay" "neurofilament heavy polypeptide measurement" + "Receptive language delay" "apolipoprotein F measurement" "junctional epidermolysis bullosa, non-Herlitz type" "obsolete_southeast Asian ovalocytosis" @@ -9098,11 +9099,11 @@ "histone-lysine N-methyltransferase SUV420H2 measurement" "geometric modifier" "laminin subunit gamma-2 measurement" - "beta-1,4-galactosyltransferase 1 measurement" "level of pyroglutamyl-peptidase 1 in blood serum" "hereditary spastic paraplegia 44" "level of CCR4-NOT transcription complex subunit 9 in blood serum" "Yarrowia lipolytica" + "beta-1,4-galactosyltransferase 1 measurement" "calpain-9" "Partial autosomal monosomy" "neuferricin" @@ -9133,8 +9134,8 @@ "Increased susceptibility to fractures" "neural cell adhesion molecule 2 measurement" "obsolete_familial thoracic aortic aneurysm and aortic dissection" - "obsolete isolated punctate palmoplantar keratoderma" "level of elongin-B in blood" + "obsolete isolated punctate palmoplantar keratoderma" "GM17179" "craniofacial anomalies and anterior segment dysgenesis syndrome" "obsolete slender bone dysplasia" @@ -9208,12 +9209,12 @@ "sporadic amyotrophic lateral sclerosis" "N-acetyl-2-aminooctanoate measurement" "ureter benign neoplasm" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "retinal cell" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" + "retinal cell" "Camptodactyly" "right aortic arch" "ichthyosiform erythroderma, corneal involvement, and hearing loss" @@ -9376,21 +9377,21 @@ "hyperemesis gravidarum, susceptibility to" "Profound sensorineural hearing impairment" "Hallux varus - preaxial polysyndactyly" - "lower respiratory tract disease" "Reoviridae infectious disease" + "lower respiratory tract disease" "level of SWI/SNF complex subunit SMARCC1 in blood serum" "Portal vein thrombosis" "N-acetylgalactosamine-4-sulfatase activity" "1A2" + "obsolete_alobar holoprosencephaly" "protein kinase c alpha type measurement" "level of nucleosome assembly protein 1-like 2 in blood serum" - "obsolete_alobar holoprosencephaly" - "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" "dracunculiasis" + "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" + "level of glutamate receptor ionotropic, kainate 2 in blood serum" "fructose-2,6-bisphosphatase TIGAR" "PARC syndrome" "testis-specific serine/threonine-protein kinase 1" - "level of glutamate receptor ionotropic, kainate 2 in blood serum" "leiomodin-2" "Ferroglobus placidus" "Ras-related protein Rab-43" @@ -9476,9 +9477,9 @@ "organophosphate metabolic process" "obsolete_supranuclear palsy, progressive" "smooth muscle cell derived cell line" + "obsolete_short stature due to growth hormone qualitative anomaly" "obsolete_neonatal intrahepatic cholestasis due to citrin deficiency" "pulmonary hypertension, primary, 2" - "obsolete_short stature due to growth hormone qualitative anomaly" "obsolete_congenital disorder of glycosylation-related bone disorder" "Multiple congenital anomalies-hypotonia-seizures syndrome type 2" "hemoglobin subunit zeta measurement" @@ -9494,15 +9495,15 @@ "autosomal dominant cerebellar ataxia type II" "Splenogonadal fusion - limb defects - micrognathia" "total lipids in lipoprotein particles measurement " - "obsolete_metaphyseal anadysplasia" "clinical ideal cardiovascular health" "Geranium dissectum" + "obsolete_metaphyseal anadysplasia" "diphthine methyl ester synthase" "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "response to ximelagatran" "obsolete_odonto-onycho-dermal dysplasia" + "response to ximelagatran" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9526,8 +9527,8 @@ "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1" "level of Ipurolic acid in blood serum" "5637" - "obsolete_paroxysmal dystonia" "level of beta-soluble NSF attachment protein in blood serum" + "obsolete_paroxysmal dystonia" "vascular neoplasm" "peroxisomal coenzyme A diphosphatase NUDT7" "integrin alpha-5 measurement" @@ -9615,10 +9616,10 @@ "Iridovirus" "obsolete_fucosidosis" "obsolete_X-linked non-syndromic sensorineural deafness type DFN" + "obsolete_acrogeria" "zona pellucida sperm-binding protein 4 measurement" "Tis" "familial temporal lobe epilepsy 5" - "obsolete_acrogeria" "nuclear receptor coactivator 7" "heterogeneous nuclear ribonucleoprotein D-like" "ACPA-positive rheumatoid arthritis" @@ -9705,9 +9706,9 @@ "Intellectual disability, severe" "celastrol" "Congenital dyserythropoietic anemia type I" - "obsolete_familial restrictive cardiomyopathy" "level of enoyl-CoA Delta isomerase 1, mitochondrial in blood serum" "thymoma type A" + "obsolete_familial restrictive cardiomyopathy" "1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine" "germplasm" "bleomycin" @@ -9765,9 +9766,9 @@ "trait in response to heparin" "phytanoyl-CoA hydroxylase-interacting protein" "X-linked intellectual disability - seizures - psoriasis" - "large cell medulloblastoma" "homer protein homolog 1" "gene name" + "large cell medulloblastoma" "level of endophilin-A1 in blood serum" "frontal lobe volume measurement" "chronic bone pain"@en @@ -9790,8 +9791,8 @@ "obsolete_spinocerebellar ataxia type 10" "KANNO antigen measurement" "protein kish-A" - "obsolete_regressive spondylometaphyseal dysplasia" "pseudoprogeria syndrome" + "obsolete_regressive spondylometaphyseal dysplasia" "galactoside 3(4)-L-fucosyltransferase measurement" "GM08398" "spermatogenic failure 23" @@ -9958,12 +9959,12 @@ "adenylosuccinate synthetase isozyme 2 measurement" "nervous system cancer" "level of sphingomyelin" - "Ovarian Tumor of the Thecoma/Fibroma Group" "nephronophthisis 3" "short stature-wormian bones-dextrocardia syndrome" + "Ovarian Tumor of the Thecoma/Fibroma Group" "Neutrophilic Myelocyte Count" - "Flattened epiphysis" "Janus kinase and microtubule-interacting protein 3" + "Flattened epiphysis" "obsolete X and Y chromosomal anomaly" "opioid dependence, susceptibility to, 1" "sulfide quinone oxidoreductase deficiency" @@ -9983,8 +9984,8 @@ "filaggrin gene expression measurement"@en "meningococcal meningitis" "renal tuberculosis" - "fibroblastic disorder" "Autosomal recessive dopa-responsive dystonia" + "fibroblastic disorder" "Boran cattle" "memory B cell" "level of dual specificity protein phosphatase 3 in blood" @@ -10083,10 +10084,10 @@ "chronic rhinosinusitis without nasal polyps" "neoplasm of epicardium" "chordin-like protein 1 measurement" - "Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus" "obsolete_adrenomyeloneuropathy" "endocardium disorder" "level of meteorin-like protein in blood serum" + "Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus" "disintegrin and metalloproteinase domain-containing protein 29 measurement" "L-Leucine measurement" "advanced glycosylation end product-specific receptor ligand measurement" @@ -10164,8 +10165,8 @@ "obsolete_glycerol kinase deficiency, juvenile form" "bronchial smooth muscle cell derived cell line" "level of beta-ureidopropionase in blood serum" - "C-type lectin domain family 2 member B measurement" "obsolete_central polydactyly of fingers, bilateral" + "C-type lectin domain family 2 member B measurement" "nasal cavity" "Apis dorsata" "calcyclin-binding protein" @@ -10205,8 +10206,8 @@ "Dravet syndrome" "Ebstein anomaly" "level of putative deoxyribonuclease TATDN3 in blood serum" - "sleep apnea measurement during REM sleep" "MERRF syndrome" + "sleep apnea measurement during REM sleep" "apomorphine hydrochloride" "obsolete_vagina" "RNA binding" @@ -10214,8 +10215,8 @@ "zinc finger protein 382" "E3 ubiquitin ligase TRAF3IP2" "Posterior fusion of lumbosacral vertebrae - blepharoptosis" - "hydantoin-5-propionic acid" "clinical and behavioural ideal cardiovascular health" + "hydantoin-5-propionic acid" "eccrine carcinoma" "obsolete_cheirospondyloenchondromatosis" "level of glutamate receptor ionotropic, NMDA 2B in blood" @@ -10320,9 +10321,9 @@ "hyper-IgM syndrome type 5" "atorvastatin" "769P" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P" "level of serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform in blood serum" "Hsc70-interacting protein" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P" "obsolete_thanatophoric dysplasia type 2" "pallidum volume" "prostate-associated microseminoprotein measurement" @@ -10404,10 +10405,10 @@ "periarthritis" "chromosome 15q13.3 microdeletion syndrome" "transforming protein RhoA measurement" - "obsolete_familial bicuspid aortic valve" "obsolete_familial mesial temporal lobe epilepsy with febrile seizures" - "inflammatory breast carcinoma" "Ral guanine nucleotide dissociation stimulator-like 2" + "obsolete_familial bicuspid aortic valve" + "inflammatory breast carcinoma" "progressive supranuclear palsy" "spasticity-ataxia-gait anomalies syndrome" "level of deoxycytidine kinase in blood serum" @@ -10460,9 +10461,9 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" - "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" + "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" @@ -10492,10 +10493,10 @@ "protein Dr1" "CB1 cannabinoid receptor-interacting protein 1" "experimental arthritis" - "RNET-seq" + "NAD-seq" "reproductive system disorder, non-human animal" + "RNET-seq" "Golgi apparatus" - "NAD-seq" "Ginkgo biloba" "obsolete_Immunodeficiency due to an early component of complement deficiency" "obsolete_young adult-onset distal hereditary motor neuropathy" @@ -10547,8 +10548,8 @@ "obsolete_SELEX" "Butyrivibrio proteoclasticus B316" "level of leukocyte immunoglobulin-like receptor subfamily A member 5 in blood serum" - "ossification anomalies-psychomotor developmental delay syndrome" "acylphosphatase-2 measurement" + "ossification anomalies-psychomotor developmental delay syndrome" "nanomole" "level of calcium and integrin-binding protein 1 in blood serum" "level of cullin-associated NEDD8-dissociated protein 1 in blood serum" @@ -10618,8 +10619,8 @@ "glutathione synthetase deficiency with 5-oxoprolinuria" "tetracyclic antidepressant" "GM17205" - "GM17135" "laminin subunit alpha-4" + "GM17135" "level of N-icosanoylsphingosine-1-phosphocholine in blood" "leukoencephalopathy, hereditary diffuse, with spheroids" "Submandibular Gland Adenocarcinoma" @@ -10659,8 +10660,8 @@ "genotype effect measurement" "humero-radio-ulnar synostosis" "NCI-H716" - "obsolete_fleck corneal dystrophy" "left ventricular diastolic function measurement" + "obsolete_fleck corneal dystrophy" "obsolete_syndromic keratoconus" "appendix neuroendocrine neoplasm" "obsolete_posttemporal" @@ -10676,8 +10677,8 @@ "obsolete_benign concentric annular macular dystrophy" "respiratory aspiration" "Melampsora larici-populina" - "level of catechol O-methyltransferase in blood serum" "mesenchymal chondrosarcoma" + "level of catechol O-methyltransferase in blood serum" "level of pregnancy-specific beta-1-glycoprotein 8 in blood serum" "casein kinase II 2-alpha:2-beta heterotetramer measurement" "Micro syndrome" @@ -10731,8 +10732,8 @@ "buttock" "Escherichia coli B" "arteriosclerosis disorder" - "embryonic stage 16" "mosaic trisomy 5" + "embryonic stage 16" "cystadenofibroma" "cytarabine" "obsolete_qualitative or quantitative defects of integrin alpha-7" @@ -10742,10 +10743,10 @@ "phospholipids in IDL measurement" "NCI-H446" "kallistatin measurement" - "autosomal dominant dilated cardiomyopathy" "level of sushi domain-containing protein 5 in blood" - "fungal discitis" + "autosomal dominant dilated cardiomyopathy" "lipoyl transferase 1 deficiency" + "fungal discitis" "transcobalamin-1 measurement" "Narrow forehead" "non-SCID combined immunodeficiency" @@ -10759,9 +10760,9 @@ "renal sinus adipose tissue measurement" "Fused teeth" "disks large homolog 3 measurement" - "small intestine neoplasm" "axin-1 measurement" "Plasma Cell Count" + "small intestine neoplasm" "solar lentigines measurement" "Hyperglycemia" "premature ovarian failure 19" @@ -10775,8 +10776,8 @@ "level of astacin-like metalloendopeptidase in blood serum" "4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one" "obsolete_SLC35A1-CDG" - "azelaoyltaurine measurement" "Mowat-Wilson syndrome due to a ZEB2 point mutation" + "azelaoyltaurine measurement" "propionic acidemia" "benign infantile focal epilepsy with midline spikes and wave during sleep" "femur-fibula-ulna complex" @@ -10795,23 +10796,23 @@ "obsolete_congenital tracheal stenosis" "decubitus ulcer" "obsolete_hereditary glaucoma" + "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" - "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "Ebola hemorrhagic fever" "tanespimycin" "obsolete_posterior lateral mesoderm" "cholesteryl ester 24:0 measurement" "level of tRNA (guanine-N(7)-)-methyltransferase in blood serum" - "bicalutamide" "L-Lysine measurement" + "bicalutamide" "level of triglyceride" "Distal renal tubular acidosis with anemia" "dermatophytosis of scalp or beard" - "ciguatera poisoning" "congenital urachal anomaly" "response to anticoagulant" "uterine corpus endometrial carcinoma" + "ciguatera poisoning" "Caulobacter vibrioides" "glyco-beta-muricholate measurement" "chromobox protein homolog 7" @@ -10845,19 +10846,19 @@ "petal" "chronic gastritis" "hereditary spastic paraplegia 5A" - "beta-arrestin-1" "obsolete_aspartylglucosaminuria" + "beta-arrestin-1" "obsolete_coronory artery calcification" "tyrosol 4-sulfate measurement" - "obsolete_6q terminal deletion syndrome" - "aortic arch defects" "total parenteral nutrition" + "aortic arch defects" "3-hydroxy-1-methylpropylmercapturic acid measurement" "uncharacterized protein KIAA1143" "GM07034" "charged multivesicular body protein 1a" "nasopharyngitis" "lethal congenital contracture syndrome" + "obsolete_6q terminal deletion syndrome" "obsolete_tricarboxylic acid cycle disorder" "adenylyltransferase and sulfurtransferase MOCS3" "insulin-like growth factor-binding protein 3" @@ -10874,11 +10875,11 @@ "obsolete_rosette stage" "EC 2.7.11.13 (protein kinase C) inhibitor" "p-cresol sulfate measurement" - "obsolete_hemophilia B" "valine-to-isovalerylcarnitine ratio" "CD38-positive IgG-negative class switched memory B cell" "5'-AMP-activated protein kinase subunit gamma-3" "obsolete_corneal stroma" + "obsolete_hemophilia B" "DN3 thymocyte" "sexual dysfunction" "sleep apnea measurement during non-REM sleep" @@ -10933,9 +10934,9 @@ "A673" "level of protein lin-7 homolog A in blood serum" "level of EH domain-containing protein 4 in blood serum" - "respiratory process" "bone tissue" "acquired lactic acidosis" + "respiratory process" "obsolete_Summitt syndrome" "level of Sterol ester (27:1/17:0) in blood serum" "cyclic adenosine monophosphate measurement"@en @@ -10953,8 +10954,8 @@ "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" "sepiapterin reductase measurement" - "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "obsolete_Johanson-Blizzard syndrome" + "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" @@ -11074,9 +11075,9 @@ "level of perilipin-3 in blood" "reticulon-4 receptor measurement" "glutarylcarnitine (C5-DC) measurement" - "obsolete_hereditary pheochromocytoma-paraganglioma" "parental genotype effect measurement" "Charcot-Marie-Tooth disease type 4K" + "obsolete_hereditary pheochromocytoma-paraganglioma" "chin morphology measurement" "cytospin-B" "complement C1q subcomponent subunit A" @@ -11131,23 +11132,23 @@ "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" "level of cell surface hyaluronidase in blood" - "monoblast" "X-linked intellectual disability - cardiomegaly - congestive heart failure" + "monoblast" + "perinatal jaundice due to hepatocellular damage" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" - "perinatal jaundice due to hepatocellular damage" "obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome" - "short stature, oligodontia, dysmorphic facies, and motor delay" "tyrosinemia type III" + "short stature, oligodontia, dysmorphic facies, and motor delay" "phosphoenolpyruvate carboxykinase deficiency" "motor peripheral neuropathy" "ring chromosome 9" "obsolete_intercostal muscle" "glycoursodeoxycholic acid sulfate (1) measurement" "obsolete_head mesoderm" - "Alkuraya-Kucinskas syndrome" "level of INO80 complex subunit E in blood serum" + "Alkuraya-Kucinskas syndrome" "Wilms tumor" "FAO" "ventricular rate measurement" @@ -11189,8 +11190,8 @@ "acute myeloid leukemia, Monosomy 5" "Müllerian aplasia" "obsolete_hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" - "Bartter disease type 3" "lysophosphatidylethanolamine 18:0 measurement"@en + "Bartter disease type 3" "level of epididymal secretory protein E3-beta in blood serum" "susceptibility to chickenpox measurement" "sodium channel subunit beta-2 measurement" @@ -11242,8 +11243,8 @@ "trophoblast glycoprotein-like" "hair follicle dermal papilla cell" "fibroblast growth factor 7 measurement" - "gamma-tocopherol" "1-nonadecanoyl-GPC (19:0) measurement" + "gamma-tocopherol" "PHGDH deficiency" "SW1088" "renal artery disease" @@ -11281,10 +11282,10 @@ "hereditary motor and sensory neuropathy with acrodystrophy" "triiodothyronine measurement" "glioblastoma" - "INSeq" "level of tumor necrosis factor receptor superfamily member 1A in blood serum" "Ras-related protein Rab-1B" "ureter urothelial papilloma" + "INSeq" "developmentally-regulated GTP-binding protein 1" "tubulin polymerization-promoting protein family member 2" "obsolete_X-linked distal spinal muscular atrophy" @@ -11382,9 +11383,9 @@ "picomole" "trophoblastic neoplasm" "amitriptyline" + "response to supplemental oxygen" "ovarian neoplasm" "Elevated circulating C-reactive protein concentration" - "response to supplemental oxygen" "homogentisate 1,2-dioxygenase measurement" "Cloverleaf skull - multiple congenital anomalies" "25-hydroxyvitamin D2" @@ -11396,8 +11397,8 @@ "histone H1x measurement" "PFSK-1" "level of palmdelphin in blood serum" - "Infundibulopelvic stenosis - multicystic kidney" "beta-Pseudouridine measurement" + "Infundibulopelvic stenosis - multicystic kidney" "MLE-15" "adipocyte" "obsolete_congenital absence of thigh and lower leg with foot present" @@ -11453,9 +11454,9 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" + "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" - "caspase-8 measurement" "autosomal recessive severe congenital neutropenia" "non-infectious anterior uveitis" "Porphyromonas gingivalis" @@ -11498,9 +11499,9 @@ "linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement" "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" "level of chordin in blood serum" + "tepal" "level of DNA-directed RNA polymerase III subunit RPC9 in blood serum" "level of intestinal alkaline phosphatase in blood serum" - "tepal" "Noccaea caerulescens" "GM19099" "chronic eustachian salpingitis" @@ -11660,9 +11661,9 @@ "parasympathetic paraganglioma" "obsolete_Johnson neuroectodermal syndrome" "C-type lectin domain family 7 member A measurement" + "obsolete_epihyal" "macrosialin" "level of RAC-alpha serine/threonine-protein kinase in blood serum" - "obsolete_epihyal" "Salmonella enterica subsp. enterica serovar Choleraesuis" "2-methylserine measurement" "ubiquitin carboxyl-terminal hydrolase BAP1" @@ -11829,7 +11830,6 @@ "inborn disorder of amino acid and other organic acid metabolism" "susceptibility to shingles measurement" "1-carboxyethyltyrosine measurement" - "Partial autosomal trisomy/tetrasomy" "leukoplakia of gingiva" "obsolete_atelosteogenesis type III" "level of Rab11 family-interacting protein 3 in blood" @@ -11838,6 +11838,7 @@ "Leukocytosis" "physical activity measurement" "Chlorocebus aethiops" + "Partial autosomal trisomy/tetrasomy" "obsolete_Becker nevus syndrome" "otitis externa" "Tessadori-Van Haaften neurodevelopmental syndrome 3" @@ -11974,8 +11975,8 @@ "BLOC-1-related complex subunit 5" "obsolete_Kleefstra syndrome due to 9q34 microdeletion" "mitochondrial glutamate carrier 2 measurement" - "N(omega),N'(omega)-dimethyl-L-arginine" "Herpetic encephalitis" + "N(omega),N'(omega)-dimethyl-L-arginine" "RNA-binding protein FXR1" "level of coenzyme Q-binding protein COQ10 homolog A, mitochondrial in blood serum" "Cardiac shunt" @@ -12047,8 +12048,8 @@ "obsolete_Beta-propeller protein-associated neurodegeneration" "citrin deficiency" "level of nucleobindin-2 in blood" - "adipocyte plasma membrane-associated protein measurement" "FL.01 1/4 of flowers open stage" + "adipocyte plasma membrane-associated protein measurement" "scopolamine methobromide" "sleep-related hypermotor epilepsy" "mucinous neoplasm" @@ -12064,8 +12065,8 @@ "obsolete_abdominal aorta" "N-formylmethionine measurement" "spastic ataxia 1" - "L-Histidine to Uric acid ratio" "Mv1Lu" + "L-Histidine to Uric acid ratio" "pleomorphic rhabdomyosarcoma" "obsolete_lymphatic system" "obsolete_lethal Kniest-like dysplasia" @@ -12097,8 +12098,8 @@ "myosin regulatory light chain 12B" "cholesteryl ester" "Short rib-polydactyly syndrome, Beemer-Langer type" - "obsolete_Rabson-Mendenhall syndrome" "L-ferritin deficiency" + "obsolete_Rabson-Mendenhall syndrome" "Bacillus anthracis str. Sterne" "Salmonella enterica subsp. enterica serovar Muenster" "level of Ras-related protein R-Ras2 in blood serum" @@ -12111,8 +12112,8 @@ "Short 5th metacarpal" "Anemia, Hemolytic, Autoimmune" "G84" - "SAM pointed domain-containing Ets transcription factor" "acrosomal protein SP-10" + "SAM pointed domain-containing Ets transcription factor" "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" "brain stem infarction" "localised cicatricial pemphigoid" @@ -12190,13 +12191,13 @@ "obsolete_familial isolated clinodactyly of fingers" "calcium-regulated heat stable protein 1 measurement" "Parse Biosciences technology"@en - "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" "Appendicular hypotonia" + "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" "myelin sheath" "MOLT-4" + "left ventricular systolic function measurement" "NCI-H747" "X-linked calvarial hyperostosis" - "left ventricular systolic function measurement" "cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement" "digestive system neuroendocrine neoplasm" "acyl-CoA-binding domain-containing protein 7" @@ -12217,8 +12218,8 @@ "obsolete_autosomal recessive primary microcephaly" "Fc receptor-like protein 5 measurement" "norrin" - "intellectual disability-brachydactyly-Pierre Robin syndrome" "obsolete_Bencze syndrome" + "intellectual disability-brachydactyly-Pierre Robin syndrome" "level of DnaJ homolog subfamily B member 6 in blood" "obsolete_Denys-Drash syndrome" "integrator complex subunit 3" @@ -12323,9 +12324,9 @@ "Bowing of the long bones" "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "enterocele"@en + "level of endothelial lipase in blood serum" "protein-tyrosine phosphatase mitochondrial 1" "multinodular goiter" - "level of endothelial lipase in blood serum" "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" "bronchoconstriction" @@ -12428,8 +12429,8 @@ "oxoglutarate measurement" "soluble gp130 measurement"@en "catecholaminergic polymorphic ventricular tachycardia 4" - "GM07056" "peanut allergy measurement" + "GM07056" "patellar tendinitis" "Scleroderma" "SLBS" @@ -12461,8 +12462,8 @@ "guttate psoriasis" "CTS (Concatenated Tag Sequencing)" "Anemia due to adenosine triphosphatase deficiency" - "GM17801" "cerebrospinal fluid clusterin measurement" + "GM17801" "level of high mobility group protein B3 in blood serum" "phosphatidylcholine O-44:4" "anterior horn disorder" @@ -12508,9 +12509,9 @@ "mCT-seq" "transmembrane gamma-carboxyglutamic acid protein 1 measurement" "Rho guanine nucleotide exchange factor 1" + "Microblepharon - ablephara" "23132/87" "isolated congenital hypogonadotropic hypogonadism" - "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" "sphingomyeline C16:1 measurement" @@ -12534,8 +12535,8 @@ "hair defect with photosensitivity and intellectual disability syndrome" "congenital hereditary facial paralysis-variable hearing loss syndrome" "lip disorder" - "histone H1.10" "obsolete_coloboma of choroid and retina" + "histone H1.10" "Abnormal morphology of left ventricular trabeculae" "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" @@ -12591,17 +12592,17 @@ "apparent mineralocorticoid excess syndrome" "autosomal recessive limb-girdle muscular dystrophy type 2I" "ubiquitin carboxyl-terminal hydrolase 4" - "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" + "obsolete_partial duplication of the long arm of chromosome 14" "N-methylpipecolate measurement" "Illumina native qseq format" - "level of protein FAM221A in blood serum" + "RERF-LC-MS" "level of ribonuclease H2 subunit A in blood" + "level of protein FAM221A in blood serum" "GM17797" "software variation design" "probable RNA-binding protein 46" "glutaminyl-peptide cyclotransferase" - "RERF-LC-MS" "Pinus strobus" "obsolete_Acatalasemia" "response to cholinesterase inhibitor" @@ -12657,13 +12658,13 @@ "guanosine measurement" "energy expenditure measurement" "retinol-binding protein 4 measurement" - "bleeding disorder, platelet-type, 24" + "eukaryotic translation initiation factor 3 subunit G measurement" "tiglylcarnitine (C5:1-DC) measurement" + "bleeding disorder, platelet-type, 24" "level of galectin-related protein in blood serum" "heme oxygenase 1 deficiency" "fructose 6-phosphate" "ring chromosome 16" - "eukaryotic translation initiation factor 3 subunit G measurement" "survival time" "verbal-numerical reasoning measurement" "translation initiation factor IF-3, mitochondrial" @@ -12701,8 +12702,8 @@ "level of Cas scaffolding protein family member 4 in blood serum" "obsolete_Distal monosomy 10q" "obsolete_X-linked intellectual disability, Brooks type" - "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" "proteasome-associated autoinflammatory syndrome 3" + "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" "obsolete_frontal encephalocele" "level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum" "medial collateral ligament" @@ -12783,9 +12784,9 @@ "obsolete_classic lissencephaly" "trafficking protein particle complex subunit 3" "N-phosphotaurocyamine measurement" - "Avulavirus infectious disease" "adolescent/adult-onset epilepsy syndrome" "Primary amenorrhea" + "Avulavirus infectious disease" "obsolete_congenital absence of both forearm and hand" "heparanase" "Blepharophimosis-intellectual disability syndrome, Verloes type" @@ -12843,19 +12844,19 @@ "diffuse midline glioma"@en "renal leiomyoma" "obsolete_WT limb-blood syndrome" + "obsolete_partial duplication of chromosome 4" "level of pro-neuregulin-2, membrane-bound isoform in blood serum" "splenic macrophage" - "obsolete_partial duplication of chromosome 4" - "level of MHC class I histocompatibility antigen C alpha chain in blood serum" "level of scavenger receptor cysteine-rich domain-containing group B protein in blood" + "level of MHC class I histocompatibility antigen C alpha chain in blood serum" "childhood brain meningioma" "level of ADP-sugar pyrophosphatase in blood" "embryonic Malpighian tubule tip cell" "level of neutral amino acid transporter A in blood" "ATC Code P Antiparasitic products, insecticides and repellents" + "obsolete_spondylometaphyseal dysplasia, Schmidt type" "oleamide" "serous cystadenocarcinoma" - "obsolete_spondylometaphyseal dysplasia, Schmidt type" "level of kelch-like protein 41 in blood serum" "familial hyperaldosteronism type III" "Lassa virus Josiah" @@ -12905,10 +12906,10 @@ "4-deoxythreonic acid measurement" "calcium-binding and coiled-coil domain-containing protein 1" "Spina bifida occulta" + "obsolete_acromesomelic dysplasia" "jugular body" "X-14658 measurement" "parp inhibitor response" - "obsolete_acromesomelic dysplasia" "ADP-ribose pyrophosphatase, mitochondrial measurement" "kidney cell" "level of DNA-binding protein inhibitor ID-1 in blood serum" @@ -12964,12 +12965,12 @@ "clear cell" "Bm4 B cell" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2G" - "obsolete_facial onset sensory and motor neuronopathy" "NT2/D1" "tyrosine-protein kinase ZAP-70 measurement" "level of pantothenate kinase 1 in blood serum" "mosaic trisomy 22" "Penicillium corylophilum" + "obsolete_facial onset sensory and motor neuronopathy" "cot filtration for single or low copy genomic DNA" "heat shock 70 kDa protein 6" "hemoglobin measurement" @@ -13035,14 +13036,14 @@ "secondary hypertension" "RNA polymerase-associated protein RTF1" "Abnormal ciliary motility" - "Craniosynostosis - fibular aplasia" "aortic valve disease" + "Craniosynostosis - fibular aplasia" "Kimura disease" "hydroxytetradecenoylcarnitine measurement" "cholesteryl ester 24:5 measurement" + "growth arrest-specific protein 1 measurement" "colchicine" "HIV-1 infection" - "growth arrest-specific protein 1 measurement" "level of N6-adenosine-methyltransferase catalytic subunit in blood serum" "geleophysic dysplasia" "DNA polymerase eta measurement" @@ -13069,8 +13070,8 @@ "ATP-binding cassette sub-family A member 2" "parotitis" "von Willebrand disease 1" - "pulmonary artery strain measurement"@en "2,4,5-trichlorophenol measurement"@en + "pulmonary artery strain measurement"@en "level of signal-regulatory protein beta-1 in blood serum" "Wide anterior fontanel" "obsolete_primary congenital hypothyroidism" @@ -13105,8 +13106,8 @@ "X-24541 measurement" "otosalpingitis" "Ataxia with vitamin E deficiency" - "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" "obsolete_genetic infertility" + "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" "immunodeficiency 35" "acylphosphatase-1" "level of transcription factor Sp6 in blood serum" @@ -13126,8 +13127,8 @@ "NCI-H650" "papilloma of eyelid" "decreased risk"@en - "lysophosphatidylcholine" "Ly49CI-positive natural killer cell, mouse" + "lysophosphatidylcholine" "level of caspase-1 in blood" "partial adenosine deaminase deficiency" "dissociative disorder" @@ -13216,10 +13217,10 @@ "disorder of organic acid metabolism" "bronchodilation" "obsolete_multiple epiphyseal dysplasia type 1" - "obsolete_holocarboxylase synthetase deficiency" - "obsolete_Warsaw breakage syndrome" "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome" + "obsolete_holocarboxylase synthetase deficiency" "Prochlorococcus marinus str. MIT 9313" + "obsolete_Warsaw breakage syndrome" "fibronectin type III domain-containing protein 4" "serine protease 57" "tumor necrosis factor receptor 1 measurement" @@ -13233,8 +13234,8 @@ "ME-180" "Rare strabismus and restriction syndrome" "obsolete_Harrod syndrome" - "Genetic lens and zonula anomaly" "obsolete_thalamus" + "Genetic lens and zonula anomaly" "Dental enamel hypoplasia" "autosomal recessive limb-girdle muscular dystrophy" "obsolete_coloboma of eye lens" @@ -13314,8 +13315,8 @@ "quinone oxidoreductase-like protein 1 measurement" "1-pentadecanoyl-GPC (15:0) measurement" "cloverleaf skull-multiple congenital anomalies syndrome" - "obsolete_lipoprotein glomerulopathy" "obsolete_autosomal dominant hereditary demyelinating motor and sensory neuropathy" + "obsolete_lipoprotein glomerulopathy" "breast hemangiopericytoma" "Virus" "obsolete_Ballard syndrome" @@ -13360,11 +13361,11 @@ "level of protein notum in blood serum" "Clostridium difficile" "ferulic acid 4-sulfate measurement" - "RM 82" "GM17802" "time series design" "Stüve-Wiedemann syndrome 1" "glutaminyl-peptide cyclotransferase-like protein" + "RM 82" "Pinus sylvestris" "level of peptidyl-prolyl cis-trans isomerase FKBP1B in blood" "Pharmacotherapy" @@ -13389,9 +13390,9 @@ "Short neck" "CKLF-like MARVEL transmembrane domain-containing protein 4" "inositol monophosphatase 1" + "level of (E)-isoheptadec-2-enoyl-CoA in blood serum" "follicular thyroid adenoma" "megalencephaly, autosomal dominant" - "level of (E)-isoheptadec-2-enoyl-CoA in blood serum" "GM17296" "VirCapSeq-VERT" "level of synapsin-3 in blood serum" @@ -13476,9 +13477,9 @@ "Dowling-Degos disease" "level of zinc finger and BTB domain-containing protein 10 in blood serum" "Sphingomyelin (d18:2/16:0, d18:1/16:1) measurement" + "4-vinylphenol sulfate" "extragonadal teratoma" "neuropeptide Y" - "4-vinylphenol sulfate" "pellagra-like syndrome" "Agnathia - holoprosencephaly - situs inversus" "ribose" @@ -13554,10 +13555,10 @@ "trafficking protein particle complex subunit 4" "BOR syndrome" "perphenazine maleate measurement" - "X-23739 measurement" "chondrosarcoma-associated gene 1 protein" "babesiosis" "Oryzias latipes" + "X-23739 measurement" "cortical surface area measurement"@en "obsolete_thymus primordium" "myofibrillar myopathy 8" @@ -13783,8 +13784,8 @@ "inflammatory poikiloderma with hair abnormalities and acral keratoses" "campesterol measurement"@en "4-Guanidinobutyric acid measurement" - "uncharacterized protein KIAA2013" "AIDS-Related Primary Central Nervous System Lymphoma" + "uncharacterized protein KIAA2013" "blood 2,2'-Methylenebis(6-tert-butyl-p-cresol) measurement" "CC16 measurement" "level of cadherin-23 in blood serum" @@ -13921,11 +13922,11 @@ "epithelium of esophagus" "Oxycephaly" "obsolete_Ito hypomelanosis" - "fibroblast growth factor 17 measurement" "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" - "cleft lip" + "fibroblast growth factor 17 measurement" "arterial occlusion" "level of Rho guanine nucleotide exchange factor 12 in blood" + "cleft lip" "level of Polycomb complex protein BMI-1 in blood serum" "sorting nexin-27" "lutropin subunit beta" @@ -13974,13 +13975,13 @@ "Hypogonadism - mitral valve prolapse - intellectual disability" "sterol carrier protein 2 deficiency" "obsolete_aorta" + "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" "Coronary-Subclavian Steal Syndrome" "posterior pharyngeal sense organ primordium" - "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" + "palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement" "MARDI" "animal viral hepatitis" "Salvelinus alpinus" - "palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement" "Slamf1-positive multipotent progenitor cell" "CB185" "obsolete_Koolen-de Vries syndrome" @@ -14011,8 +14012,8 @@ "information processing speed" "obsolete_palatine tonsil" "effector T cell" - "NET-Seq" "obsolete_retinoblastoma" + "NET-Seq" "serpin I2" "severe combined immunodeficiency due to CD70 deficiency" "glycine N-acyltransferase-like protein 2" @@ -14061,14 +14062,14 @@ "familial meningioma" "E3 ubiquitin-protein ligase pellino homolog 1" "GM17281" - "obsolete_brachydactyly type A2" "benign neoplasm of maxillary sinus" + "obsolete_brachydactyly type A2" + "Illumina native fastq format" "obsolete_partial deletion of the short arm of chromosome 8" "sialolithiasis" - "Illumina native fastq format" "membrane protein FAM174B measurement" - "Linear IgA Dermatosis" "GM17803" + "Linear IgA Dermatosis" "embryonic midgut interstitial cell" "SBC-3" "level of kinesin-like protein KIF3C in blood serum" @@ -14260,9 +14261,9 @@ "Swan neck-like deformities of the fingers" "acrocallosal syndrome" "Sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1) measurement" - "4-ethylphenyl sulfate" "Usher syndrome" "NAD(P)H dehydrogenase [quinone] 1" + "4-ethylphenyl sulfate" "tribenuron methyl" "pelviscapular dysplasia" "agrochemical" @@ -14312,8 +14313,8 @@ "level of angiopoietin-related protein 2 in blood" "Spontaneous pneumothorax" "surfeit locus protein 1 measurement" - "ephrin type-B receptor 2 measurement" "KPL1" + "ephrin type-B receptor 2 measurement" "Abnormality of the liver" "S-acyl fatty acid synthase thioesterase, medium chain" "Y-box-binding protein 1" @@ -14513,8 +14514,8 @@ "coloboma of inferior eyelid" "central nervous system embryonal neoplasm"@en "familial atrial myxoma" - "infectious disease biomarker" "obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" + "infectious disease biomarker" "obsolete_conotruncal heart malformations" "adactyly of foot, bilateral" "level of neurturin in blood" @@ -14605,9 +14606,9 @@ "chromosome 22q11.2 microduplication syndrome" "basal cell of epidermis" "hemangioma of peripheral nerve" - "Frac-Seq" "Methylation Spanning Linker Library (MSLL) processing" "Zoarces viviparus" + "Frac-Seq" "pregnancy-specific beta-1-glycoprotein 3 measurement" "freeze dried specimen" "mitochondrial import inner membrane translocase subunit Tim8 A" @@ -14671,18 +14672,18 @@ "myotubularin-related protein 6" "palmitoyl-oleoyl-glycerol (16:0/18:1) [2] measurement" "CB491" - "Steatocystoma multiplex - natal teeth" "serine--tRNA ligase, mitochondrial" + "Steatocystoma multiplex - natal teeth" "obsolete_trisomy 4p" - "blood ethylparaben sulfate measurement" - "4-Hydroxybenzaldehyde measurement" "ethylmalonate measurement"@en "level of bone morphogenetic protein 15 in blood serum" + "blood ethylparaben sulfate measurement" + "4-Hydroxybenzaldehyde measurement" "carcinogenicity" - "fibronectin fragment 3 measurement" "protocadherin gamma-A1" "serine/threonine-protein kinase Nek7" "febrile seizures, familial, 3a" + "fibronectin fragment 3 measurement" "pimozide" "polypeptide N-acetylgalactosaminyltransferase 1" "Increased mean corpuscular volume" @@ -14709,8 +14710,8 @@ "obsolete_perirhinal cortex" "level of cleavage and polyadenylation specificity factor subunit 5 in blood serum" "RIP-seq" - "brain cortex volume measurement"@en "HapMap haplotype mapping" + "brain cortex volume measurement"@en "NG Capture-C" "pharyngeal endoderm" "growth/differentiation factor 11 measurement" @@ -14729,12 +14730,12 @@ "RT-112" "response to carboplatin" "Theiler stage 11" + "aldrin measurement"@en "peanut allergic reaction" "1-methylnicotinamide measurement"@en "Neurodevelopmental disorder"@en "desmin" "colon lymphoma" - "aldrin measurement"@en "orofaciodigital syndrome" "E3 ubiquitin-protein ligase UHRF2" "GDM1" @@ -14759,8 +14760,8 @@ "epidermal growth factor receptor kinase substrate 8-like protein 1" "level of proteasome subunit beta type-2 in blood serum" "obsolete_otodental syndrome" - "obsolete_SERKAL syndrome" "brain germinoma" + "obsolete_SERKAL syndrome" "bone marrow cancer" "S wave amplitude" "immature CD8_alpha-positive CD11b-negative dendritic cell" @@ -14776,21 +14777,21 @@ "famotidine" "hatipoglu immunodeficiency syndrome" "dihydropyrimidinuria" + "obsolete_occipital pachygyria and polymicrogyria" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" - "obsolete_occipital pachygyria and polymicrogyria" "hypertensive encephalopathy" "ribose-phosphate pyrophosphokinase 2" "integrin alpha-V: beta-5 complex measurement" "pterygium" "lymphoplasmacytic lymphoma" - "mandibular cancer" "acquired hemoglobinopathy" + "mandibular cancer" "level of ubiquitin-conjugating enzyme E2 Q2 in blood serum" - "cup-to-disc ratio measurement" "progressive cerebello-cerebral atrophy" - "Ly49D-negative natural killer cell, mouse" + "cup-to-disc ratio measurement" "FVB"@en + "Ly49D-negative natural killer cell, mouse" "telencephalic ventricle" "simvastatin" "adenomyoma" @@ -14817,6 +14818,7 @@ "level of DNA/RNA-binding protein KIN17 in blood serum" "obsolete_subependymal nodular heterotopia" "hypersensitivity pneumonitis, familial" + "obsolete_hypophosphatasia" "X-12798-to-phenylalanine ratio" "MATQ-seq" "B cell derived cell line" @@ -14824,10 +14826,9 @@ "congenital hematological disorder" "level of protein MENT in blood serum" "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" - "obsolete_hypophosphatasia" - "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "Autosomal recessive spastic paraplegia type 28" "B melanoma antigen 2 measurement" + "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "vascular insufficiency disorder" "combined oxidative phosphorylation deficiency 49" "Abnormal mastoid morphology" @@ -14857,20 +14858,20 @@ "melanoma, cutaneous malignant, susceptibility to, 1" "response to methylphenidate" "level of synaptogyrin-3 in blood serum" - "Parkinson disease, mitochondrial" "obsolete_inherited epidermolysis bullosa" + "Parkinson disease, mitochondrial" "Primary lateral sclerosis" "level of protein FosB in blood" "Spondyloepimetaphyseal dysplasia" "leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3" "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" "cancer antigen 50 measurement"@en - "benign tumor of palpebral epidermis" "short rib dysplasia" + "benign tumor of palpebral epidermis" "Armfield syndrome" + "latent-transforming growth factor beta-binding protein 4 measurement" "Aptenodytes patagonicus" "level of hydroxymethylglutaryl-CoA synthase, mitochondrial in blood serum" - "latent-transforming growth factor beta-binding protein 4 measurement" "Carney complex - trismus - pseudocamptodactyly syndrome" "immunodeficiency 96" "Papillary Tumor of the Pineal Region" @@ -14919,16 +14920,16 @@ "otospondylomegaepiphyseal dysplasia, autosomal dominant" "copy number assessment" "hyperlipoproteinemia" - "obsolete_tetrasomy X" "C4BP measurement" "testosterone measurement" "GM02783" "leukocyte adhesion deficiency 1" "EF-hand calcium-binding domain-containing protein 14 measurement" "day" + "obsolete_tetrasomy X" "RNA extraction protocol" - "obsolete_kidney stone" "X-linked intellectual disability-spastic quadriparesis syndrome" + "obsolete_kidney stone" "endosome-associated-trafficking regulator 1" "level of 26S proteasome non-ATPase regulatory subunit 10 in blood serum" "Autosomal monosomy" @@ -14936,8 +14937,8 @@ "melanoma-derived growth regulatory protein measurement" "encounter with health service related to reproduction" "obsolete_lysosomal storage disease with skeletal involvement" - "aggrecan core protein measurement" "obsolete_bilateral frontal polymicrogyria" + "aggrecan core protein measurement" "alpha-2A adrenergic receptor" "negative regulation of immune response" "granzyme h measurement" @@ -14979,8 +14980,8 @@ "continuous spikes and waves during sleep" "thymidine kinase, cytosolic measurement" "silver-Russell syndrome due to an imprinting defect of 11p15" - "level of dynein axonemal intermediate chain 1 in blood serum" "Acute hepatic porphyria" + "level of dynein axonemal intermediate chain 1 in blood serum" "obsolete_Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys" "level of phytanoyl-CoA hydroxylase-interacting protein-like in blood serum" "level of adipocyte plasma membrane-associated protein in blood serum" @@ -14994,11 +14995,11 @@ "sterol measurement"@en "p-hydroxyhippurate" "Epidermal thickening" - "Benign Ovarian Surface Epithelial-Stromal Tumor" "G-rich sequence factor 1" + "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "free cholesterol to total lipids in very large HDL percentage " "protein argonaute-1 measurement" + "free cholesterol to total lipids in very large HDL percentage " "Pelvic kidney" "epilepsy, idiopathic generalized, susceptibility to, 8" "McLeod neuroacanthocytosis syndrome" @@ -15023,9 +15024,9 @@ "pleural disorder" "dengue virus seropositivity" "murine neuroblastoma cholinergic cell line" - "obsolete_Bannayan-Riley-Ruvalcaba syndrome" "transforming growth factor beta-1-induced transcript 1 protein measurement" "biotinidase activity" + "obsolete_Bannayan-Riley-Ruvalcaba syndrome" "phorbol 12-tiglate 13-decanoate measurement" "retinal dystrophy with leukodystrophy" "hantavirus hemorrhagic fever with renal syndrome" @@ -15077,10 +15078,10 @@ "chromosome 5 disorder" "level of oxidized purine nucleoside triphosphate hydrolase in blood serum" "nectin-4 measurement" - "X-linked intellectual disability - dysmorphism - cerebral atrophy" "trochlear nerve neoplasm" - "obsolete_Pelizaeus-Merzbacher disease, transitional form" + "X-linked intellectual disability - dysmorphism - cerebral atrophy" "sprouty-related, EVH1 domain-containing protein 1" + "obsolete_Pelizaeus-Merzbacher disease, transitional form" "obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "renal tubule disease" "nemaline myopathy 5C, autosomal dominant" @@ -15112,8 +15113,8 @@ "level of pyridoxine-5'-phosphate oxidase in blood serum" "hereditary breast carcinoma" "transient myeloproliferative syndrome" - "Epithelio-exfoliative colitis - deafness" "rotenone" + "Epithelio-exfoliative colitis - deafness" "linolenic acid" "Gastric Mucosa-Associated Lymphoid Tissue Lymphoma" "obsolete Juberg-Marsidi syndrome" @@ -15130,8 +15131,8 @@ "glycogen storage disease due to muscle and heart glycogen synthase deficiency" "HMG CoA reductase inhibitor use measurement" "embryonic stage 8" - "Suarez-Stickler syndrome" "level of transcriptional regulator Kaiso in blood serum" + "Suarez-Stickler syndrome" "Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement" "Congenital chronic diarrhea with protein-losing enteropathy" "Reduced factor XII activity" @@ -15163,11 +15164,11 @@ "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "acute salpingo-oophoritis" "precuneus cortex volume measurement"@en - "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "level of transcription intermediary factor 1-beta in blood serum" "leg" "peptidoglycan recognition protein 4" "substantia nigra and ventral tegmental area" + "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "emotional symptom measurement" "hypogonadotropic hypogonadism 5 with or without anosmia" "Mikati-Najjar-Sahli syndrome" @@ -15178,8 +15179,8 @@ "microlissencephaly" "TRAMP-C1" "obsolete_antenna" - "basal ganglia cerebrovascular disease" "GM14532" + "basal ganglia cerebrovascular disease" "UACC812" "phosphatidylcholine (18:0/20:5, 16:0/22:5n6) measurement" "diabetic autonomic neuropathy" @@ -15210,9 +15211,9 @@ "Ochoa syndrome" "apolipoprotein C-II" "obsolete 46,XX sex reversal 1" + "Torticollis - keloids - cryptorchidism - renal dysplasia" "alanine glyoxylate aminotransferase deficiency" "Mycoplasma pneumoniae pneumonia" - "Torticollis - keloids - cryptorchidism - renal dysplasia" "microvascular complications of diabetes, susceptibility to, 4" "global developmental delay, progressive ataxia, and elevated glutamine" "tubulin--tyrosine ligase" @@ -15409,8 +15410,8 @@ "ectodermal dysplasia and immune deficiency" "Genetic urogenital tract malformation" "obsolete_fin bud" - "planned process" "X-12712 measurement" + "planned process" "perilipin-1" "dystonia 16" "obsolete_Nijmegen breakage syndrome" @@ -15429,12 +15430,12 @@ "lichen nitidus" "cerebral sarcoma" "creatine" + "Hypogonadotropic hypogonadism - retinitis pigmentosa" "flavin-containing monooxygenase 3" "X-24571 measurement" "central hearing loss" "receptor-type tyrosine-protein phosphatase mu" "ChIP-chip by array" - "Hypogonadotropic hypogonadism - retinitis pigmentosa" "distal 7q11.23 microdeletion syndrome" "obsolete_free sialic acid storage disease" "childhood endodermal sinus tumor" @@ -15457,8 +15458,8 @@ "obsolete_central congenital hypothyroidism" "stomatin-like protein 1" "GPN-loop GTPase 1" - "pro-glucagon" "high throughput sequence alignment protocol" + "pro-glucagon" "Anophthalmia/microphthalmia - esophageal atresia" "dumping syndrome" "Reduced tendon reflexes" @@ -15527,8 +15528,8 @@ "obsolete_sex chromosome disorder of sex development" "QRS-T angle"@en "RNA polymerase II elongation factor ELL3" - "Haemophilus influenzae" "oleoylcarnitine measurement" + "Haemophilus influenzae" "mature CD8_alpha-positive CD11b-negative dendritic cell" "Lumbar hyperlordosis" "level of killer cell immunoglobulin-like receptor 2DL1 in blood serum" @@ -15562,8 +15563,8 @@ "response to gemcitabine" "frontal lobe epilepsy" "sulfadimethoxine sodium measurement" - "blepharitis" "obsolete_pharyngeal pouch 2" + "blepharitis" "phase-transfer catalyst" "obsolete_Niemann-Pick disease type C, late infantile neurologic onset" "chronic cystitis" @@ -15596,8 +15597,8 @@ "ischemic bowel disorder" "level of AT-rich interactive domain-containing protein 4B in blood" "Poor speech" - "protocadherin gamma-A10" "obsolete_X-linked complicated corpus callosum dysgenesis" + "protocadherin gamma-A10" "central nervous system toxicity" "autosomal recessive nonsyndromic hearing loss 2" "prostate intraepithelial neoplasia" @@ -15605,10 +15606,10 @@ "level of C-X-C motif chemokine 3 in blood serum" "HCC1599" "idiopathic scoliosis" - "branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement" "distal arthrogryposis type 2B1" "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood serum" "HCC4006" + "branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement" "level of PWWP domain-containing DNA repair factor 3A in blood serum" "MFM-223" "sick sinus syndrome 1" @@ -15620,8 +15621,8 @@ "myofibrillar myopathy 4" "melanoma, cutaneous malignant, susceptibility to, 2" "obsolete_hypertelorism-preauricular sinus-punctual pits-deafness syndrome" - "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "Epithelioid Cell Uveal Melanoma" + "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "obsolete_hereditary hypophosphatemic rickets with hypercalciuria" "level of synaptojanin-2-binding protein in blood serum" "thyroid hormone metabolism, abnormal" @@ -15658,10 +15659,10 @@ "UPF0696 protein C11orf68" "HeLa-S3" "level of tubulin polymerization-promoting protein family member 2 in blood serum" - "O-succinylcarnitine" "response to trastuzumab" - "inositol measurement"@en + "O-succinylcarnitine" "trans-4-hydroxy-L-proline" + "inositol measurement"@en "neutropenia, severe congenital, 9, autosomal dominant" "effector memory CD8-positive, alpha-beta T cell" "level of DET1- and DDB1-associated protein 1 in blood" @@ -15847,9 +15848,9 @@ "FAIRE-seq" "obsolete_progressive deafness with stapes fixation" "sarcoplasmic/endoplasmic reticulum calcium ATPase 3 measurement" - "Double uterus - hemivagina - renal agenesis" "calcipressin-1" "obsolete neuro-ophthalmological disease" + "Double uterus - hemivagina - renal agenesis" "rostral anterior cingulate cortex volume measurement"@en "level of creatine kinase U-type, mitochondrial in blood" "salpingo-oophoritis" @@ -15925,9 +15926,9 @@ "WAP four-disulfide core domain protein 10A" "potassium bicarbonate measurement" "protein mono-ADP-ribosyltransferase PARP11" - "H2.35" "keratin, type I cuticular Ha4" "intellectual disability, autosomal recessive 58" + "H2.35" "T-cell surface glycoprotein CD1c" "conjunctivitis" "Arbovirus Infections" @@ -15936,10 +15937,10 @@ "ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement" "level of melanoma-associated antigen 4 in blood serum" "N-methylnicotinate" + "obsolete_punctate palmoplantar keratoderma" "perichondritis of auricle" "methionine" "Botrytis cinerea" - "obsolete_punctate palmoplantar keratoderma" "LysM and putative peptidoglycan-binding domain-containing protein 3" "small nuclear ribonucleoprotein G" "obsolete_neonatal hemochromatosis" @@ -15955,8 +15956,8 @@ "Cirrhosis" "nonsyndromic genetic hearing loss" "5 prime end bias" - "Aniridia-intellectual disability syndrome" "3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio" + "Aniridia-intellectual disability syndrome" "Spinocerebellar ataxia with oculomotor anomaly" "immature CD11c-low plasmacytoid dendritic cell" "level of 2-phosphoxylose phosphatase 1 in blood serum" @@ -15979,21 +15980,21 @@ "X-23787 measurement" "obsolete_SHOX-related short stature" "obsolete_adrenal cortex" + "Progéria - short stature - pigmented nevi" "myc target protein 1 measurement" "DCN1-like protein 2" - "Progéria - short stature - pigmented nevi" "obsolete_carnitine palmitoyl transferase II deficiency, neonatal form" "disorder of metabolite absorption and transport" "mastectomy"@en "infantile-onset X-linked spinal muscular atrophy" "high content screen of cells treated with library of siRNAs" "ND00268" - "obsolete_Kleefstra syndrome" "spastic paraplegia, optic atropy, and neuropathy" "level of smad5 in blood" "NCI-H1092" "level of oligodendrocyte-myelin glycoprotein in blood" "level of fibroblast growth factor receptor-like 1 in blood serum" + "obsolete_Kleefstra syndrome" "response to neuromuscular blocker" "infectious disease characteristic" "1182-4H" @@ -16044,8 +16045,8 @@ "Double inlet left ventricle" "1-arachidonoyl-GPE (20:4n6) measurement" "type II diabetes mellitus with acanthosis nigricans" - "level of secretory carrier-associated membrane protein 5 in blood serum" "gastric outlet obstruction" + "level of secretory carrier-associated membrane protein 5 in blood serum" "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" @@ -16080,8 +16081,8 @@ "adhesion G protein-coupled receptor E2 measurement" "obsolete_autosomal dominant distal hereditary motor neuropathy" "72 kDa inositol polyphosphate 5-phosphatase measurement" - "Micrococcal Nuclease digestion" "embryo sac" + "Micrococcal Nuclease digestion" "Pierre Robin syndrome-faciodigital anomaly syndrome" "INTACT" "benign neoplasm of glottis" @@ -16121,12 +16122,12 @@ "short rib-polydactyly syndrome, Majewski type" "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" - "tyrosine-protein phosphatase non-receptor type 6 measurement" "obsolete_platyspondylic dysplasia, Torrance type" + "astaxanthin measurement" + "tyrosine-protein phosphatase non-receptor type 6 measurement" "2'-5'-oligoadenylate synthase 1 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "level of tetraspanin-7 in blood" - "astaxanthin measurement" "linguistic error measurement" "obsolete_Prader-Willi-like syndrome" "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" @@ -16137,8 +16138,8 @@ "Spartina x townsendii" "infraorbital lateral line neuromast" "carboxamide measurement"@en - "high content screen of cells in treated with a compound library" "level of Ceramide (d40:1) in blood serum" + "high content screen of cells in treated with a compound library" "level of immunoglobulin kappa variable 1-5 (human) in blood serum" "obsolete_Canavan disease" "level of apolipoprotein E in blood serum" @@ -16227,8 +16228,8 @@ "X inactivation, familial skewed, 1" "cadmium chloride measurement"@en "subacute bacterial endocarditis" - "UL16-binding protein 2" "A2780" + "UL16-binding protein 2" "ATTRV122I amyloidosis" "chronic respiratory distress with surfactant metabolism deficiency" "Autosomal dominant cerebellar ataxia type 2" @@ -16303,10 +16304,10 @@ "obsolete_Camurati-Engelmann disease" "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "Gait imbalance" - "level of glycosaminoglycan xylosylkinase in blood serum" "obsolete_median nodule of the upper lip" - "differential expression analysis data" + "level of glycosaminoglycan xylosylkinase in blood serum" "myristate 14:0-to-myristoleate 14:1n5 ratio" + "differential expression analysis data" "Rab11 family-interacting protein 3" "GM11831" "B-cell lymphoma/leukemia 10 measurement" @@ -16490,8 +16491,8 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Qualitative or quantitative defects of collagen 6" "Pavo cristatus" + "Qualitative or quantitative defects of collagen 6" "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "glycylvaline measurement" "interleukin-23 measurement" @@ -16523,10 +16524,10 @@ "malignant tumor of palpebral epidermis" "response to methazolamide"@en "Pulmonary capillary hemangiomatosis" - "Paraganglioma" "tumor necrosis factor receptor superfamily member 10D measurement" "developmental and epileptic encephalopathy 100" "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" + "Paraganglioma" "3-hydroxyoctanoate measurement" "thoracic aortic raised atherosclerotic lesion" "acquired hemangioma" @@ -16580,8 +16581,8 @@ "Perlman syndrome" "N-carbamoyl-beta-alanine" "month" - "linear skin defects with multiple congenital anomalies" "neuromuscular disease" + "linear skin defects with multiple congenital anomalies" "Congenital miosis" "obsolete_intellectual disability" "dilatation of the sinus of Valsalva" @@ -16593,8 +16594,8 @@ "HCC1937" "DR20" "level of angiopoietin-related protein 7 in blood serum" - "Isochrysis galbana" "nuclear protein NP60" + "Isochrysis galbana" "chloride transmembrane transporter activity" "protein APCDD1" "acute myeloblastic leukemia without maturation" @@ -16714,8 +16715,8 @@ "human papilloma virus infection" "C-type lectin domain family 2 member D measurement" "46C" - "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" "neuronopathy, distal hereditary motor, autosomal dominant 8" + "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" "obsolete_distal tetrasomy 15q" "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "level of prostatic acid phosphatase in blood serum" @@ -16837,9 +16838,9 @@ "DCN1-like protein 5" "immune system organ benign neoplasm" "opercular lateral line neuromast" + "experimental stage" "level of serine/threonine-protein phosphatase 1 regulatory subunit 10 in blood serum" "level of Ceramide (d42:2) in blood serum" - "experimental stage" "level of zinc finger CCHC domain-containing protein 18 (human) in blood serum" "CS57569" "level of macoilin in blood serum" @@ -16858,9 +16859,9 @@ "episodic ataxia type 5" "obsolete_pseudohyperaldosteronism type 2" "hereditary geniospasm" + "obsolete_pancytopenia-developmental delay syndrome" "3-Indolepropionic acid to N,N-Dimethylglycine ratio" "level of phosphatidylcholine transfer protein in blood serum" - "obsolete_pancytopenia-developmental delay syndrome" "mature CD11c-low plasmacytoid dendritic cell" "m-hydroxyhippurate" "obsolete_46,XX disorder of gonadal development" @@ -16924,8 +16925,8 @@ "obsolete_hyper-IgM syndrome type 2" "obsolete_LMNA-related cardiocutaneous progeria syndrome" "Toledo" - "interleukin-2 receptor subunit beta measurement" "obsolete_type II diabetes mellitus" + "interleukin-2 receptor subunit beta measurement" "metastasis free survival" "level of mitochondrial inner membrane protease subunit 2 in blood serum" "tumor grade 2, general grading system" @@ -16977,8 +16978,8 @@ "level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum" "level of frizzled-2 in blood serum" "pituitary gland disease" - "nerve root" "Genetic motor neuron disease" + "nerve root" "hereditary spastic paraplegia 4" "level of glutamate receptor ionotropic, delta-1 in blood serum" "lethal Larsen-like syndrome" @@ -17004,10 +17005,10 @@ "HG03095" "DNase-hypersensitivity seq" "periosteal chondrosarcoma" - "level of microtubule nucleation factor SSNA1 in blood serum" "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" - "craniotelencephalic dysplasia" "ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement" + "level of microtubule nucleation factor SSNA1 in blood serum" + "craniotelencephalic dysplasia" "level of motor neuron and pancreas homeobox protein 1 in blood serum" "myc proto-oncogene protein measurement" "Charcot-Marie-Tooth disease axonal type 2T" @@ -17114,8 +17115,8 @@ "obsolete_lissencephaly due to TUBA1A mutation" "inherited disease susceptibility" "International Unit" - "Antihistamine use measurement" "influenza A severity measurement" + "Antihistamine use measurement" "breast-ovarian cancer, familial, susceptibility to, 1" "E3 ubiquitin-protein ligase RNF5" "functioning pituitary gland neoplasm" @@ -17152,11 +17153,11 @@ "obsolete_PA-TU-8988T" "methylmalonic aciduria cblb type" "epidermolysis bullosa, junctional 6, with pyloric atresia" - "obsolete_constitutional megaloblastic anemia with severe neurologic disease" "double outlet right ventricle" "obsolete Glanzmann's thrombasthenia" - "ClickSeq" + "obsolete_constitutional megaloblastic anemia with severe neurologic disease" "Distichiasis" + "ClickSeq" "epithelioid hemangioendothelioma" "Locusta migratoria" "level of ectonucleoside triphosphate diphosphohydrolase 6 in blood serum" @@ -17200,8 +17201,8 @@ "autosomal recessive brachyolmia" "prominent glabella-microcephaly-hypogenitalism syndrome" "sphingomyelin d18:1/16:1" - "pyroglutamylvaline measurement" "DNA assay" + "pyroglutamylvaline measurement" "mast-cell leukemia" "benign urethral neoplasm" "galanin-like peptide measurement" @@ -17211,9 +17212,9 @@ "Human papillomavirus" "level of hepatoma-derived growth factor-like protein 1 in blood serum" "obsolete_alopecia" + "obsolete_developmental delay with autism spectrum disorder and gait instability" "Congenital atransferrinemia" "tRNA (guanine-N(7)-)-methyltransferase" - "obsolete_developmental delay with autism spectrum disorder and gait instability" "NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement" "GRIL-seq" "fibrous dysplasia" @@ -17337,14 +17338,14 @@ "free cholesterol in IDL measurement" "HCC1954" "ADAMTS-like protein 4" - "obsolete_genetic nail anomaly" "obsolete_pituitary stalk interruption syndrome" - "level of coiled-coil domain-containing protein 69 in blood serum" + "obsolete_genetic nail anomaly" "obsolete_pure or complex autosomal recessive spastic paraplegia" + "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" + "level of coiled-coil domain-containing protein 69 in blood serum" "in situ sequencing" "small integral membrane protein 9" "Anterior creases of earlobe" - "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" "3-hydroxybutyrate change measurement" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" @@ -17357,8 +17358,8 @@ "uridine phosphorylase 1" "G141" "obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" - "tumor necrosis factor receptor superfamily member 19 measurement" "obsolete_COG5-CDG" + "tumor necrosis factor receptor superfamily member 19 measurement" "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2" "hyperimmunoglobulinemia D with periodic fever" "Phakomatosis with eye involvement" @@ -17387,10 +17388,10 @@ "cell culture supernatant"@en "cell culture supernatant" "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11" - "Hypotonia - failure to thrive - microcephaly" "heart leiomyosarcoma" - "Morvan syndrome" + "Hypotonia - failure to thrive - microcephaly" "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" + "Morvan syndrome" "infantile epileptic encephalopathy" "combined immunodeficiency due to LRBA deficiency" "obsolete_lysinuric protein intolerance" @@ -17417,17 +17418,17 @@ "psychotic symptoms" "trait in response to terbinafine" "obsolete_aldosterone-producing adenoma with seizures and neurological abnormalities" - "alpha-2-macroglobulin measurement" "corpus allatum" "level of meprin A subunit alpha in blood serum" + "alpha-2-macroglobulin measurement" "qualitative or quantitative defects of telethonin" "cystathionine beta-synthase measurement" "recessive dystrophic epidermolysis bullosa" "non-rhizomelic chondrodysplasia punctata" "level of phospholipase DDHD2 in blood serum" + "cholecystolithiasis" "Hennekam-Beemer syndrome" "anophthalmia/microphthalmia-esophageal atresia syndrome" - "cholecystolithiasis" "neuronal ceroid lipofuscinosis 5" "Charcot-Marie-Tooth disease type 1E" "periventricular nodular heterotopia" @@ -17527,8 +17528,8 @@ "level of zinc finger protein 843 in blood serum" "immature CD1a-positive Langerhans cell" "dodecanedioate measurement" - "HG02571" "anterior lateral line nerve" + "HG02571" "Arabis mosaic virus" "level of protein phosphatase 1 regulatory subunit 14A in blood serum" "CMRF35-like molecule 7" @@ -17575,8 +17576,8 @@ "cytochrome c oxidase subunit 5A, mitochondrial" "level of Rho GTPase-activating protein 25 in blood serum" "endoplasmic reticulum resident protein 29 measurement" - "bone benign neoplasm" "vascular smooth muscle hypertrophy" + "bone benign neoplasm" "nucleus of medial longitudinal fasciculus of medulla" "level of Ceramide (d42:1) in blood serum" "high content screening stage" @@ -17685,18 +17686,18 @@ "level of protein rogdi in blood serum" "thyroid function" "chromosome 19q13.11 deletion syndrome" - "cerebral small vessel disease" "trichoblastoma" + "cerebral small vessel disease" "5'-nucleotidase domain-containing protein 3" "ILSXISS48/TejJ" "3-sulfino-L-alanine" "Palpebral tumor" "CB66" "Obesity Hypoventilation Syndrome" - "Rienhoff syndrome" "protein-tyrosine sulfotransferase 2 measurement" "Decreased circulating renin concentration" "inclusive hindgut primordium" + "Rienhoff syndrome" "esophageal basaloid carcinoma" "hepatic veno-occlusive disease" "apolipoprotein F" @@ -17707,8 +17708,8 @@ "myocyte-specific enhancer factor 2C" "childhood leukemia" "growth retardation-mild developmental delay-chronic hepatitis syndrome" - "androsterone sulfate" "lysophosphatidylcholine 18:1 measurement"@en + "androsterone sulfate" "oculodentodigital dysplasia" "level of sarcospan in blood serum" "histone acetyltransferase KAT2A" @@ -17769,8 +17770,8 @@ "obsolete hereditary thrombocytopenia with normal platelets" "forskolin" "Toll/interleukin-1 receptor domain-containing adapter protein" - "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "obsolete_isolated asymptomatic elevation of creatine phosphokinase" + "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" "animal disease" "carboxylic acid measurement"@en "idiopathic nephrotic syndrome" @@ -17783,9 +17784,9 @@ "intracranial germ cell tumor"@en "xanthomatosis" "hilar portion of hepatic duct" + "X-11845 measurement" "chromosome 19 disorder" "obsolete_pharyngeal pouch 5" - "X-11845 measurement" "congenital mitral malformation" "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "cholesteryl ester 22:4 measurement" @@ -17804,9 +17805,9 @@ "autoimmune polyendocrinopathy" "bark" "obsolete_spinocerebellar ataxia" + "CAL 27" "sodium channel subunit beta-3" "partial deletion of the long arm of chromosome 14" - "CAL 27" "Hyperglycinuria" "DNA-binding protein inhibitor ID-1" "peripheral plasma membrane protein CASK" @@ -17838,14 +17839,14 @@ "level of calmegin in blood" "obsolete_combined cervical dystonia" "White matter hypoplasia - corpus callosum agenesis - intellectual disability" - "oculogastrointestinal muscular dystrophy" "lisinopril measurement" + "oculogastrointestinal muscular dystrophy" + "genetic non-acquired premature ovarian failure"@en "obsolete_head mesoderm anlage" "Theiler stage 24" - "genetic non-acquired premature ovarian failure"@en + "hepatitis B virus induced hepatocellular carcinoma" "peritonsillar abscess" "septum of telencephalon" - "hepatitis B virus induced hepatocellular carcinoma" "Schinzel-Giedion syndrome" "AB SOLiD System 3.0" "spondyloepimetaphyseal dysplasia, Handigodu type" @@ -17861,16 +17862,16 @@ "congenital mitral stenosis" "milligram per milliliter" "cell suspension culture" - "central nervous system nongerminomatous germ cell tumor" "collagen alpha-2(XI) chain measurement" - "temporal lobe cancer" "dihomo-linolenate 20:3n3 or n6 measurement" + "central nervous system nongerminomatous germ cell tumor" + "Antiglaucoma preparations and miotics use measurement" + "temporal lobe cancer" + "lung disease severity measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "Antiglaucoma preparations and miotics use measurement" "microcephaly, short stature, and limb abnormalities" - "lung disease severity measurement" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "infectious otitis media" @@ -17933,8 +17934,8 @@ "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" - "E3 ubiquitin-protein ligase RBBP6 measurement" "obsolete_PFAPA syndrome" + "E3 ubiquitin-protein ligase RBBP6 measurement" "level of protein-glutamine gamma-glutamyltransferase 2 in blood" "trichodysplasia-xeroderma syndrome" "3-Indolepropionic acid to Methylmalonic acid ratio" @@ -17972,11 +17973,11 @@ "Paranasal Sinus Schneiderian Papilloma" "protocadherin-12" "obsolete_thallus" - "magnetic affinity cell sorting" "acute kidney failure" "polypeptide N-acetylgalactosaminyltransferase 16" "GM17240" "level of sorting nexin-9 in blood" + "magnetic affinity cell sorting" "level of variable charge X-linked protein 1 in blood serum" "obsolete_spinocerebellar ataxia type 6" "inflammation of heart layer" @@ -18080,8 +18081,8 @@ "anus cancer" "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" - "obsolete_coralliform cataract" "Perturb-Seq" + "obsolete_coralliform cataract" "obsolete familial patent arterial duct" "dodecenedioate (C12:1-DC) measurement" "Usher syndrome type 2" @@ -18254,11 +18255,11 @@ "4-methoxyphenol sulfate measurement" "obsolete_cardiospondylocarpofacial syndrome" "lateral line ganglion" - "obsolete_congenital microcoria" "animal allergen seropositivity" - "X-11478 measurement" + "obsolete_congenital microcoria" "obsolete_anterior lateral line system" "establishment of localization in cell" + "X-11478 measurement" "red blood cell density measurement" "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" @@ -18312,8 +18313,8 @@ "metaphysis of femur" "obsolete_severe early-onset axonal neuropathy due to NEFL deficiency" "apolipoprotein E" - "cysteine-rich motor neuron 1 protein measurement" "activin/inhibin beta B chain" + "cysteine-rich motor neuron 1 protein measurement" "Alopecia - intellectual disability - hypergonadotropic hypogonadism" "mitochondrial trifunctional protein deficiency" "tyrosine-protein phosphatase non-receptor type 9" @@ -18405,8 +18406,8 @@ "airway submucosal gland"@en "lacrimal apparatus disease" "Autosomal dominant nail dysplasia" - "level of zona pellucida sperm-binding protein 4 in blood serum" "subdural empyema" + "level of zona pellucida sperm-binding protein 4 in blood serum" "autosomal recessive limb-girdle muscular dystrophy type 2N" "obsolete_autosomal recessive polycystic kidney disease" "sialic acid-binding Ig-like lectin 9 measurement" @@ -18510,9 +18511,9 @@ "Intellectual disability" "Abnormality of the urinary system physiology" "obsolete_tuber" - "obsolete_Pai syndrome" "carnitine measurement"@en "immature platelet measurement" + "obsolete_Pai syndrome" "nasopharynx" "malignant germ cell tumor of ovary" "Laryngeal cleft" @@ -18525,8 +18526,8 @@ "1,3,7-trimethylurate" "ectonucleotide pyrophosphatase/phosphodiesterase family member 5 measurement" "qualitative or quantitative defects of myotubularin" - "protein BTG4" "chromosome 20 disorder" + "protein BTG4" "level of protein numb in blood serum" "Ehlers-Danlos syndrome, arthrochalasic type" "transcription factor AP-2-alpha" @@ -18535,8 +18536,8 @@ "Late-onset distal myopathy, Markesbery-Griggs type" "Acanthamoeba keratitis" "cranial division of the internal carotid artery" - "5-amino-1-(5-phospho-D-ribosyl)imidazole" "partial sensory epilepsy" + "5-amino-1-(5-phospho-D-ribosyl)imidazole" "ChIP-chip by SNP array" "protocadherin beta-10 measurement" "serpin A9" @@ -18548,15 +18549,15 @@ "imipramine" "eicosadienoic acid measurement" "total glycated albumin" - "level of replication factor C subunit 4 in blood" "albumin:globulin ratio measurement" + "level of replication factor C subunit 4 in blood" "Absent muscle fiber dysferlin" "epilepsy, progressive myoclonic, 11" "CCD-18Co cell" "myelosuppression" - "Pimephales promelas" "inflorescence meristem" "Eucalyptus nitens" + "Pimephales promelas" "young-onset Parkinson disease" "immunodeficiency, common variable, 14" "obsolete_isolated dystonia" @@ -18575,8 +18576,8 @@ "birth rate" "CCAAT/enhancer-binding protein epsilon" "Ehlers-Danlos syndrome, arthrochalasia type" - "obsolete_proximal myopathy with extrapyramidal signs" "obsolete_microgram per milliliter" + "obsolete_proximal myopathy with extrapyramidal signs" "level of ropporin-1B in blood serum" "acute myeloid leukemia, CEBPA gene mutation" "Sushi domain-containing protein 1 measurement" @@ -18698,8 +18699,8 @@ "microcephaly-complex motor and sensory axonal neuropathy syndrome" "upper digestive tract" "lipoma of colon" - "Brassica juncea" "high bone mass osteogenesis imperfecta" + "Brassica juncea" "Obesity due to congenital leptin resistance" "Extrahepatic Bile Duct Squamous Cell Carcinoma" "CUB and sushi domain-containing protein 2" @@ -18785,10 +18786,10 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_short stature, Brussels type" - "bilateral microtia-deafness-cleft palate syndrome" + "level of small RNA 2'-O-methyltransferase in blood serum" "obsolete_complement component 3 deficiency" + "bilateral microtia-deafness-cleft palate syndrome" "phakomatosis pigmentovascularis" "Lilium regale" "Alar cartilages hypoplasia - coloboma - telecanthus" @@ -18816,9 +18817,9 @@ "chondromyxoid fibroma" "central brain primordium" "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions" + "obsolete_Nuclear cataract" "Genetic bone tumor" "histone-lysine N-methyltransferase ASH1L measurement" - "obsolete_Nuclear cataract" "Usher syndrome type 3" "obsolete DNA methylation" "ras-related protein Rab-27A measurement" @@ -18948,12 +18949,12 @@ "Deafness - vitiligo - achalasia" "fungus seropositivity" "familial hyperthyroidism due to mutations in TSH receptor" + "congenital disorder of glycosylation type I" "maxillary sensory complex primordium" "level of C-Maf-inducing protein in blood" "C-type lectin domain family 4 member A" "POU domain, class 2, transcription factor 1" "RPMI8226" - "congenital disorder of glycosylation type I" "level of glutamate decarboxylase 1 in blood serum" "obsolete_blood plasma" "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" @@ -18974,8 +18975,8 @@ "parietal foramina 2" "immature CD8_alpha-low Langerhans cell" "octadecanedioate measurement" - "uncharacterized protein KIAA0040 measurement" "obsolete_adrenogenital syndrome" + "uncharacterized protein KIAA0040 measurement" "spermatogenic failure 26" "Streptococcus suis" "Waardenburg syndrome type 2E" @@ -19024,10 +19025,10 @@ "muscular channelopathy" "orthostatic intolerance" "protein mono-ADP-ribosyltransferase PARP16" + "gastric ulcer" "level of cold-inducible RNA-binding protein in blood serum" "Macrocytic dyserythropoietic anemia" "level of NACHT, LRR and PYD domains-containing protein 1 in blood serum" - "gastric ulcer" "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "pulmonary non-tuberculous mycobacterial infection" "decanoate" @@ -19121,8 +19122,8 @@ "X-25433 measurement" "ethmoid sinusitis" "level of protein IMPACT in blood serum" - "obsolete_familial benign copper deficiency" "split hand or/and split foot malformation" + "obsolete_familial benign copper deficiency" "complement C5B-C6 complex measurement" "Abnormal cerebral morphology" "level of arginyl-tRNA--protein transferase 1 in blood serum" @@ -19159,8 +19160,8 @@ "mucopolysaccharidosis type 1" "Schilbach-Rott syndrome" "vasculature" - "somatosensory cortex" "intellectual disability-myopathy-short stature-endocrine defect syndrome" + "somatosensory cortex" "squamous cell neoplasm" "skeletal tuberculosis" "endothelial cell of respiratory system lymphatic vessel"@en @@ -19185,8 +19186,8 @@ "kallikrein-14 measurement" "embryonic leading edge cell" "single cell identifier" - "obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency" "motor developmental delay due to 14q32.2 paternally expressed gene defect" + "obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency" "level of serpin B13 in blood serum" "normalization testing design" "Darwin's tubercule" @@ -19273,10 +19274,10 @@ "Postsynaptic congenital myasthenic syndromes" "obsolete genetic hypertension" "inborn disorder of purine or pyrimidine metabolism" - "Pasteurella hemorrhagic septicemia" "proteomic profiling by array" - "protocadherin beta-2 measurement" + "Pasteurella hemorrhagic septicemia" "level of eukaryotic translation initiation factor 4 gamma 1 in blood serum" + "protocadherin beta-2 measurement" "cholinergic antagonist" "cortical surface area change measurement"@en "adult central nervous system germ cell tumor" @@ -19293,8 +19294,8 @@ "obsolete_congenital primary megaureter, refluxing form" "acute dacryoadenitis" "obsolete_genetic non-syndromic obesity" - "SLIT and NTRK-like protein 4 measurement" "Mydriasis" + "SLIT and NTRK-like protein 4 measurement" "X-linked recessive disease" "X-linked lethal multiple pterygium syndrome" "hepatitis virus-related hepatocellular carcinoma" @@ -19305,11 +19306,11 @@ "2-hydroxysebacate measurement" "obsolete Knobloch syndrome" "very long chain acyl-CoA dehydrogenase deficiency" + "obsolete_periodic paralysis with transient compartment-like syndrome" "carbohydrate sulfotransferase 9" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 alpha in blood serum" "level of frizzled-8 in blood serum" "Methylobacterium extorquens AM1" - "obsolete_periodic paralysis with transient compartment-like syndrome" "Ehlers-Danlos syndrome, spondylodysplastic type" "macula of utricle of membranous labyrinth" "silicon atom" @@ -19454,9 +19455,9 @@ "MITF-related melanoma and renal cell carcinoma predisposition syndrome" "level of protein Wnt-5a in blood serum" "intellectual disability-severe speech delay-mild dysmorphism syndrome" - "Sushi domain-containing protein 3 measurement" "Constipation" "regulator of G-protein signaling 4" + "Sushi domain-containing protein 3 measurement" "Acute otitis media" "Abnormality of the nervous system" "Mesocricetus auratus" @@ -19478,8 +19479,8 @@ "neuron-specific vesicular protein calcyon" "level of scaffold attachment factor B2 in blood" "level of syntaxin-binding protein 4 in blood" - "methylmalonic aciduria and homocystinuria type cblF" "metformin measurement" + "methylmalonic aciduria and homocystinuria type cblF" "obsolete_sensory nervous system primordium" "level of triggering receptor expressed on myeloid cells 2 in blood serum" "X-10395 measurement" @@ -19629,11 +19630,11 @@ "level of myelin protein zero-like protein 2 in blood serum" "HHV-7 infectious disease" "5,6-dihydrouracil" - "obsolete_acrocallosal syndrome" "nerve plexus" + "obsolete_acrocallosal syndrome" + "obsolete_Gaucher disease" "cinnamic acid measurement" "organism status" - "obsolete_Gaucher disease" "Young syndrome" "2'-O-methyluridine measurement" "maleate measurement"@en @@ -19642,25 +19643,25 @@ "Melkersson-Rosenthal syndrome" "chronic eosinophilic pneumonia" "spitz nevus" - "obsolete_multiple metaphyseal dysplasia" "level of tyrosine-protein kinase Mer in blood serum" "unilateral retinoblastoma" + "obsolete_multiple metaphyseal dysplasia" "ethmoidal sinus neoplasm" "X12442--5,8-tetradecadienoate measurement" "Myeloid Progenitor Cell Count" "primary pigmented nodular adrenocortical disease" "Penicillium expansum" "desmosome" - "netrin-4 measurement" "voltage-dependent T-type calcium channel subunit alpha-1H" - "Crotalus atrox" + "netrin-4 measurement" "ceramide phosphoethanolamine" "level of growth arrest and DNA damage-inducible proteins-interacting protein 1 in blood serum" "mycotoxicosis" + "Crotalus atrox" "renal-genital-middle ear anomalies" - "level of tubulin-specific chaperone cofactor E-like protein in blood serum" "level of DNA-binding protein inhibitor ID-4 in blood" "obsolete Difficulty walking" + "level of tubulin-specific chaperone cofactor E-like protein in blood serum" "panic disorder with agoraphobia" "Cataract - intellectual disability - hypogonadism" "ras-related protein Rab-7b measurement" @@ -19669,8 +19670,8 @@ "level of signal peptidase complex subunit 1 in blood serum" "postprandial hypotension" "submitter" - "5-acetylamino-6-amino-3-methyluracil measurement" "myosin light polypeptide 6" + "5-acetylamino-6-amino-3-methyluracil measurement" "Kleine-Levin Syndrome" "DR1564" "level of lysosome-associated membrane glycoprotein 1 in blood serum" @@ -19705,9 +19706,9 @@ "labial sensory complex primordium" "C-type lectin domain family 4 member D" "RWPE1" - "Partial congenital cataract" "congenital disorder of glycosylation type II" "obsolete_fatal post-viral neurodegenerative disorder" + "Partial congenital cataract" "Cerebral disease with cataract" "response to flupirtine" "obsolete_capillary" @@ -19715,8 +19716,8 @@ "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" "renal dialysis" "congenital bowing of long bones" - "insulin-like growth factor 2 mRNA-binding protein 3" "transmembrane protein 132D" + "insulin-like growth factor 2 mRNA-binding protein 3" "SHAPE-Seq" "tumor predisposition syndrome 2" "level of desumoylating isopeptidase 1 in blood serum" @@ -19792,8 +19793,8 @@ "isolated congenital microcephaly" "X-linked mandibulofacial dysostosis" "Metaplastic Meningioma" - "gastric triacylglycerol lipase measurement" "sci-CAR" + "gastric triacylglycerol lipase measurement" "17alpha-ethynylestradiol" "obsolete_hemoglobin C disease" "spotted antibody reporter" @@ -19832,8 +19833,8 @@ "7,12-dimethyltetraphene" "obsolete_Brachyolmia type 1, Hobaek type" "phosphoinositide 3-kinase adapter protein 1" - "obsolete_metabolic disease involving other neurotransmitter deficiency" "alternatively activated macrophage" + "obsolete_metabolic disease involving other neurotransmitter deficiency" "right ventricular ejection fraction to left ventricular ejection fraction ratio"@en "Abnormal earlobe morphology" "obsolete_mosaic genome-wide paternal uniparental disomy" @@ -19862,8 +19863,8 @@ "catecholamine secretion" "obsolete_vitamin B12-responsive methylmalonic acidemia" "level of aldo-keto reductase family 1 member B1 in blood serum" - "oocyte/zygote/embryo maturation arrest 17" "phosphatidylcholine acyl-alkyl C42:3 measurement" + "oocyte/zygote/embryo maturation arrest 17" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" "childhood testicular mixed germ cell cancer" @@ -19911,8 +19912,8 @@ "obsolete_hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" "cell barcode" "CWR-22 cell" - "ATPase WRNIP1" "RERF-GC-1B" + "ATPase WRNIP1" "operator variation design" "metastasis measurement" "DENN domain-containing protein 10" @@ -19929,10 +19930,10 @@ "Autosomal recessive spastic paraplegia type 46" "mitochondrial complex 1 deficiency, nuclear type 35" "level of V-type proton ATPase subunit F in blood" - "Congenital isolated thyroxine-binding globulin deficiency" "Cervical Glandular Intraepithelial Neoplasia" "spondyloepiphyseal dysplasia tarda" "peroxiredoxin-6 measurement" + "Congenital isolated thyroxine-binding globulin deficiency" "obsolete Moyomoya angiopathy" "spinal muscular atrophy, type III" "X-18899 measurement" @@ -20011,8 +20012,8 @@ "transcription regulator protein BACH1 measurement" "factor VII measurement" "pulmonary alveolar proteinosis" - "asymmetrical dimethylarginine measurement" "sleep-wake disorder" + "asymmetrical dimethylarginine measurement" "Aroclor 1254" "level of prostaglandin E synthase 3 in blood serum" "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction" @@ -20021,9 +20022,9 @@ "NMNAT1-related retinopathy" "hospitalisation"@en "intrahepatic cholangiocarcinoma" - "male infertility with teratozoospermia due to single gene mutation" "partial deletion of the long arm of chromosome 17" "level of E3 ubiquitin ligase TRIM40 in blood" + "male infertility with teratozoospermia due to single gene mutation" "level of LRP2-binding protein in blood" "glutathione s-transferase p measurement" "HMEC" @@ -20092,8 +20093,8 @@ "congenital primary megaureter" "obsolete_floor plate rhombomere 5" "hand-foot-genital syndrome" - "forelimb zeugopod" "retinitis pigmentosa 32" + "forelimb zeugopod" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 beta in blood serum" "thrombin generation potential measurement" "angiomotin" @@ -20150,9 +20151,9 @@ "penile neoplasm" "free cholesterol measurement" "lattice corneal dystrophy type I" + "kwashiorkor" "cAMP-dependent protein kinase type II-alpha regulatory subunit" "ovarian primitive germ cell tumor" - "kwashiorkor" "parietal cortex measurement" "distal monosomy 1q" "tigloylglycine measurement" @@ -20211,9 +20212,9 @@ "NEDD8 ultimate buster 1" "methylhistidine measurement" "obsolete_syndromic myopia" - "hyperparathyroidism" "schneckenbecken dysplasia" "level of biotinidase in blood" + "hyperparathyroidism" "plasma membrane" "CL-34" "hereditary spastic paraplegia 26" @@ -20273,8 +20274,8 @@ "blood viscosity" "cardiac atrium" "sepiapterin reductase (NADP+) activity" - "obsolete_TRPV4-related bone disorder" "athletic endurance measurement" + "obsolete_TRPV4-related bone disorder" "pouchitis" "level of mammalian ependymin-related protein 1 in blood serum" "level of neuropilin and tolloid-like protein 1 in blood serum" @@ -20552,8 +20553,8 @@ "level of SAM pointed domain-containing Ets transcription factor in blood serum" "monounsaturated fatty acids; 16:1, 18:1 measurement" "episodic ataxia type 1" - "Susceptibility to viral and mycobacterial infections" "glycoprotein endo-alpha-1,2-mannosidase-like protein" + "Susceptibility to viral and mycobacterial infections" "level of WAP four-disulfide core domain protein 5 in blood serum" "right ventricular stroke volume to left ventricular stroke volume ratio"@en "Hearing abnormality" @@ -20596,11 +20597,11 @@ "level of V-type proton ATPase subunit G 1 in blood" "spastic paraplegia 70, autosomal recessive" "phosphatidylcholine acyl-alkyl C42:4 measurement" - "childhood embryonal testis carcinoma" "lipid" + "childhood embryonal testis carcinoma" "diazoxide-resistant hyperinsulinism" - "fallopian tube papilloma" "embryonal Fyn-associated substrate" + "fallopian tube papilloma" "N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide" "sphenoid sinusitis" "lung pericyte cell"@en @@ -20610,8 +20611,8 @@ "adenine phosphoribosyltransferase deficiency" "amygdala" "X-linked cerebral adrenoleukodystrophy" - "obsolete_partial deletion of the long arm of chromosome 4" "level of nuclear inhibitor of protein phosphatase 1 in blood serum" + "obsolete_partial deletion of the long arm of chromosome 4" "Microcephaly - deafness - intellectual disability" "gigaxonin measurement" "nucleus accumbens volume" @@ -20686,9 +20687,9 @@ "plant embryo" "transferrin receptor protein 1 measurement" "distal trisomy 22q" - "sympathetic ophthalmia" "histatin-1" "SPRET/EiJ" + "sympathetic ophthalmia" "level of prostaglandin reductase 1 in blood serum" "syndactyly type 1" "Orofaciodigital syndrome type 5" @@ -20730,8 +20731,8 @@ "Channelopathy with epilepsy" "trimethylamine-N-oxide measurement"@en "sterol metabolism disorder" - "Pelger-Huet anomaly" "malignant central nervous system mesenchymal, non-meningothelial neoplasm" + "Pelger-Huet anomaly" "Ullrich congenital muscular dystrophy" "level of low-density lipoprotein receptor-related protein 10 in blood serum" "level of eukaryotic translation initiation factor 5A-2 in blood serum" @@ -20817,10 +20818,10 @@ "obsolete_cingulate cortex" "obsolete_Leber plus disease" "Camptosynpolydactyly, complex" - "cysteine-rich secretory protein LCCL domain-containing 2" "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" - "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" + "cysteine-rich secretory protein LCCL domain-containing 2" "renal afferent arteriole" + "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" "signal-regulatory protein beta-1" "alkaline ceramidase 3 deficiency" "level of SHC-transforming protein 4 in blood serum" @@ -20854,12 +20855,12 @@ "obsolete_tetramelic monodactyly" "calsyntenin-1" "level of zinc finger protein 276 in blood serum" - "Dentatorubral pallidoluysian atrophy" "leiomyosarcoma" - "glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement" + "Dentatorubral pallidoluysian atrophy" "sporophyte senescent stage" "Togaviridae infectious disease" "X12063 measurement" + "glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement" "sleep measurement" "response to bezlotoxumab"@en "obsolete_syndactyly" @@ -20925,9 +20926,9 @@ "obsolete_lissencephaly with cerebellar hypoplasia type F" "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" "Francisella tularensis subsp. tularensis SCHU S4" + "tumor necrosis factor receptor superfamily member 16 measurement" "cadmium sulfate" "spastic ataxia 4" - "tumor necrosis factor receptor superfamily member 16 measurement" "6alpha-methylprednisolone" "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related measurement" "level of hydroxysteroid dehydrogenase-like protein 2 in blood" @@ -21014,9 +21015,9 @@ "TERV-AntiSenseB56" "fructose-bisphosphate aldolase measurement" "familial bicuspid aortic valve" + "obsolete_mucolipidosis type IV" "PK-59" "agammaglobulinemia 7, autosomal recessive" - "obsolete_mucolipidosis type IV" "cardiac ventricle" "Picea mariana" "level of ribonuclease-like protein 10 in blood serum" @@ -21141,9 +21142,9 @@ "ubiquitin-conjugating enzyme E2 Z" "Leuconostoc pseudomesenteroides" "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" - "colorectal leiomyoma" "NF-kappa-B inhibitor epsilon" "level of ephrin type-A receptor 4 in blood serum" + "colorectal leiomyoma" "level of neuropilin and tolloid-like protein 2 in blood serum" "Bcl-2-like protein 11 isoform 2" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 measurement" @@ -21192,8 +21193,8 @@ "palmoplantar keratoderma, epidermolytic" "LP.18 eighteen leaves visible stage" "level of serine/threonine-protein kinase OSR1 in blood serum" - "X-23665 measurement" "Pectobacterium carotovorum" + "X-23665 measurement" "Chondroid Hamartoma" "Induced vaginal delivery" "cysts and fistulae of the face and oral cavity" @@ -21404,13 +21405,13 @@ "CGR8" "cholate" "paroxysmal dystonia" + "obsolete_trisomy 17p" "LXF-289" "Micropapillary Serous Carcinoma" "endothelin-1" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" "1-methyladenosine" - "obsolete_trisomy 17p" "Eye Injuries, Penetrating" "pleckstrin homology domain-containing family A member 7 measurement" "traditional Korean medicine type"@en @@ -21418,8 +21419,8 @@ "sh2 domain-containing protein 1a measurement" "OVCAR8" "protein shisa-5" - "wooly hair, autosomal recessive 3" "Cortical dysplasia - focal epilepsy syndrome" + "wooly hair, autosomal recessive 3" "ribokinase" "splenic manifestation of hairy cell leukemia" "inositol polyphosphate 4-phosphatase type II" @@ -21435,8 +21436,8 @@ "obsolete_familial retinal arterial macroaneurysm" "developmental delay with or without dysmorphic facies and autism" "X-21285 measurement" - "CBA/J" "Salmo salar" + "CBA/J" "developmental and epileptic encephalopathy, 44" "Fc-epsilon RIalpha-high basophil progenitor cell" "histatin-3" @@ -21455,8 +21456,8 @@ "myeloid zinc finger 1" "Disorder of lysine and hydroxylysine metabolism" "level of tuftelin in blood serum" - "Madras motor neuron disease" "pure or complex autosomal recessive spastic paraplegia" + "Madras motor neuron disease" "Hordeum vulgare subsp. vulgare" "Rocker bottom foot" "level of cyclic AMP-dependent transcription factor ATF-5 in blood serum" @@ -21493,8 +21494,8 @@ "hereditary papillary renal cell carcinoma" "EEG with spike-wave complexes" "obsolete_partial deletion of the short arm of chromosome 10" - "obsolete_Hennekam syndrome" "X-18922 measurement" + "obsolete_Hennekam syndrome" "keratinocyte differentiation-associated protein measurement" "benign neoplasm of prostate" "GABA aminotransaminase deficiency" @@ -21508,8 +21509,8 @@ "obsolete_autosomal recessive cutis laxa type 2, classic type" "phosphatidylcholine 33:1 measurement" "obsolete_osteogenesis imperfecta type 4" - "obsolete_peroneal nerve" "hTERT-HPNE cell" + "obsolete_peroneal nerve" "LysoPC 20:2 measurement" "infectious myxomatosis" "pheochromocytoma" @@ -21546,9 +21547,9 @@ "obsolete_primary erythermalgia" "North Carolina macular dystrophy" "level of interleukin-1 receptor-associated kinase 4 in blood" - "obsolete_acrocephalopolydactyly" "congenital structural myopathy" "transcription factor PU.1" + "obsolete_acrocephalopolydactyly" "cortisol" "trichothiodystrophy 2, photosensitive" "level of SHC-transforming protein 2 in blood serum" @@ -21581,9 +21582,9 @@ "ATR-X-related syndrome" "ameloblastin measurement" "anthranilate measurement" + "Von Willebrand disease type 2" "leaf sheath" "Cowden syndrome 7" - "Von Willebrand disease type 2" "nephrolithiasis, calcium oxalate" "level of beta-hexosaminidase subunit alpha in blood serum" "level of AP-1 complex subunit sigma-2 in blood serum" @@ -21602,8 +21603,8 @@ "tocopherol measurement" "level of BTB/POZ domain-containing protein KCTD7 in blood serum" "protein Z deficiency" - "obsolete_radicle" "cannabis dependence" + "obsolete_radicle" "obsolete_strain" "liver endoderm" "combined deficiency of factor V and factor VIII" @@ -21624,16 +21625,16 @@ "CD27-high, CD11b-high natural killer cell, mouse" "1HAEo"@en "CS57701" + "Osteoporosis - oculocutaneous hypopigmentation syndrome" "obsolete_distal hereditary motor neuropathy type 7" "ankyrin repeat domain-containing protein 2" "dixin" "level of zinc finger protein SNAI2 in blood serum" "Hypodipsia" - "Osteoporosis - oculocutaneous hypopigmentation syndrome" - "Escherichia coli O157:H7 str. Sakai" "chiro-inositol measurement" - "1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement" + "Escherichia coli O157:H7 str. Sakai" "obsolete_Hermansky-Pudlak syndrome without pulmonary fibrosis" + "1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement" "3-aminoisobutyric acid" "E3 ubiquitin-protein ligase RNF149 measurement" "obsolete_infantile neuronal ceroid lipofuscinosis" @@ -21666,8 +21667,8 @@ "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "Proximal tubulopathy - diabetes mellitus - cerebellar ataxia" "level of guanylate-binding protein 4 in blood" - "canonical inflammasome complex" "obsolete_retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" + "canonical inflammasome complex" "primary cell line" "wild-derived inbred strain" "Dysmyelinating leukodystrophy" @@ -21686,19 +21687,19 @@ "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en "congenital genu recurvatum" - "autosomal recessive disease" "obsolete_hyperphalangy, bilateral" + "autosomal recessive disease" "obsolete_qualitative or quantitative defects of desmin" "level of testis-specific serine/threonine-protein kinase 1 in blood serum" "trypsin-1 measurement" "familial sick sinus syndrome" - "obsolete_immuno-osseous dysplasia" "syndromic craniosynostosis" "level of protein canopy homolog 2 in blood" "Gout" "sepal primordium visible stage" "Papio hamadryas" "Abnormality of the pulmonary veins" + "obsolete_immuno-osseous dysplasia" "inflammation" "peripheral hypothyroidism" "mucosa of large intestine" @@ -21819,8 +21820,8 @@ "ATC Code J Antiinfectives for systemic use" "osteogenesis imperfecta and a reduction of bone mineral density." "memory impairment" - "response to synacthen" "heat tolerance" + "response to synacthen" "congenital dyserythropoietic anemia type 4" "Gaucher disease type 2" "PLCG2-associated antibody deficiency and immune dysregulation" @@ -21991,8 +21992,8 @@ "Secreted frizzled-related protein 3 measurement" "CD3 gamma" "calf circumference measurement" - "obsolete_Böök syndrome" "Dyschromatosis universalis" + "obsolete_Böök syndrome" "vitamin A" "gremlin-1 measurement" "mastocytoma" @@ -22100,14 +22101,14 @@ "obsolete_blastula stage" "tsangane l 3-glucoside measurement" "endometrioid stromal sarcoma of the vagina" - "3-hydroxypropylmercapturic acid measurement" "testin" "GM07022" + "3-hydroxypropylmercapturic acid measurement" "zinc finger protein 276" - "obsolete_brittle cornea syndrome" "median nodule of the upper lip" - "susceptibility to partial acquired lipodystrophy"@en + "obsolete_brittle cornea syndrome" "diet" + "susceptibility to partial acquired lipodystrophy"@en "Rab-like protein 6" "scATAC-seq (cell index)" "level of DnaJ homolog subfamily C member 17 in blood serum" @@ -22210,12 +22211,12 @@ "hypertrichosis" "GLUT1 deficiency syndrome" "leukemia inhibitory factor receptor measurement" - "obsolete_familial avascular necrosis of femoral head" "pregnenolone sulfate measurement" "BP8" "essential hypertension" - "obsolete_2p21 microdeletion syndrome without cystinuria" + "obsolete_familial avascular necrosis of femoral head" "Achondroplasia" + "obsolete_2p21 microdeletion syndrome without cystinuria" "C-X-C motif chemokine 5 measurement" "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 measurement" "level of V-set and immunoglobulin domain-containing protein 10 in blood serum" @@ -22299,19 +22300,19 @@ "far red light regimen" "RELT-like protein 2" "obsolete_synpolydactyly type 3" + "free cholesterol to total lipids in large LDL percentage " "circulating cell free DNA measurement" "hyperlipidemia due to hepatic triglyceride lipase deficiency" - "free cholesterol to total lipids in large LDL percentage " "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" - "phosphatidylcholine 36:2" "ubiquilin-2" + "phosphatidylcholine 36:2" "transferrin receptor protein 1" "level of platelet basic protein in blood serum" "phosphatidylcholine 40:3" "level of integrin-linked kinase-associated serine/threonine phosphatase 2C in blood" "p53 and DNA damage-regulated protein 1 measurement" - "Enterococcus mundtii" "level of small VCP/p97-interacting protein in blood serum" + "Enterococcus mundtii" "Isolated congenital sclerocornea" "inositol polyphosphate-5-phosphatase A" "cystoid macular edema" @@ -22357,9 +22358,9 @@ "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" "level of endothelin-2 in blood serum" "obsolete_reducing body myopathy" - "ketogenic diet" "keto-phenylpyruvate" "protocadherin beta-1" + "ketogenic diet" "vitamin K-dependent protein C measurement" "symbrachydactyly of hands and feet" "sarcoplasmic/endoplasmic reticulum calcium ATPase 3" @@ -22397,12 +22398,12 @@ "atrial fibrillation, familial, 3" "obsolete_congenital fiber-type disproportion myopathy" "cytokine receptor-like factor 1" - "Genetic vitreous-retinal disease" "smooth muscle cancer" + "Genetic vitreous-retinal disease" "hereditary methemoglobinemia" "Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement" - "nucleic acid extraction protocol" "hypermobility syndrome" + "nucleic acid extraction protocol" "glycosyl compound biosynthetic process" "obsolete_Richards-Rundle syndrome" "obsolete_foot" @@ -22488,8 +22489,8 @@ "obsolete_strain factor" "level of protocadherin alpha-7 in blood serum" "Caplan's syndrome" - "type B pancreatic cell" "multiple epidermal growth factor-like domains protein 10 measurement" + "type B pancreatic cell" "Peripheral neuropathy" "lethal Kniest-like dysplasia" "level of flap endonuclease 1 in blood serum" @@ -22499,15 +22500,15 @@ "type 1 diabetes mellitus 2" "pleurisy" "anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement" + "Gaucher disease type 3" "material property" "establishment of localization" "dynein light chain Tctex-type 3" "medial" - "Gaucher disease type 3" "synaptotagmin-2 measurement" + "olfactomedin-like protein 3 measurement" "age of onset of migraine disorder" "GM17166" - "olfactomedin-like protein 3 measurement" "WASH complex subunit 3" "beta-myrcene" "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" @@ -22540,8 +22541,8 @@ "GM14408" "obsolete_isolated encephalocele" "MARVEL domain-containing protein 2" - "cytoplasmic vesicle membrane" "Split hand-split foot malformation" + "cytoplasmic vesicle membrane" "protein CIAO1" "obsolete multicellular organism aging" "MV4II" @@ -22616,11 +22617,11 @@ "level of collagen type II alpha chain in blood" "obsolete_Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" "nidogen-1 measurement" - "HER2 Positive Breast Carcinoma" "triacylglycerol 48:3 measurement"@en "level of protein BEX3 in blood" "spermathecum" "BTBR mouse" + "HER2 Positive Breast Carcinoma" "IgG galactosylation measurement" "acrocephalosyndactyly" "docosapentaenoic acid measurement" @@ -22683,8 +22684,8 @@ "obsolete_response to anticonvulsant" "Jervell and Lange-Nielsen syndrome" "obsolete_adenohypophysis" - "phosphatidylethanolamine ether measurement"@en "obsolete_presumptive enteric nervous system" + "phosphatidylethanolamine ether measurement"@en "adult hepatocellular carcinoma" "manic or hypomanic episode" "radiation exposure"@en @@ -22699,8 +22700,8 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "collagen alpha-1(I) chain" "obsolete_congenital short bowel syndrome" + "collagen alpha-1(I) chain" "D04 cell" "Enchytraeus albidus" "obsolete_seborrhea-like dermatitis with psoriasiform elements" @@ -22747,8 +22748,8 @@ "microgram per liter" "Congenital disorder of glycosylation with cardiac malformation as a major feature" "alcoholic cardiomyopathy" - "fetal anticonvulsant syndrome" "Glanzmann thrombasthenia 1" + "fetal anticonvulsant syndrome" "peripheral arterial disease" "angioid streaks of choroid" "growth/differentiation factor 7" @@ -22850,8 +22851,8 @@ "autosomal dominant retinitis pigmentosa"@en "non-grapefruit juice consumption measurement" "cholesterol in small VLDL measurement " - "response to BCG intravesical immunotherapy" "U-251 MG" + "response to BCG intravesical immunotherapy" "cell division cycle protein 123" "endomembrane system" "level of receptor expression-enhancing protein 2 in blood serum" @@ -23010,13 +23011,13 @@ "level of nodal modulator 2 in blood serum" "GM12146" "neuronal acetylcholine receptor subunit alpha-5" + "leg injury" "cutaneous adenocystic carcinoma" "level of FAS-associated factor 2 in blood serum" "level of myosin light chain 1/3, skeletal muscle isoform in blood" "colorectal cancer, susceptibility to, 1" "embryonic proventriculus outer layer" "level of spindlin-3 in blood serum" - "leg injury" "opioid dependence" "obsolete autosomal recessive axonal hereditary motor and sensory neuropathy" "hyperpigmentation with or without hypopigmentation, familial progressive" @@ -23066,8 +23067,8 @@ "Dickeya dadantii" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood" "response to ketogenic diet" - "Diffuse Melanocytosis" "syndromic X-linked intellectual disability Najm type" + "Diffuse Melanocytosis" "kallikrein-6" "common variable immunodeficiency" "CD27-high, CD11b-low natural killer cell, mouse" @@ -23097,8 +23098,8 @@ "carbonic anhydrase 12" "autoimmune pancreatitis" "benign neoplasm of pericardium" - "junction plakoglobin" "cell death" + "junction plakoglobin" "obsolete congenital myotonia" "Central scotoma" "hyperdibasic aminoaciduria type 1" @@ -23123,17 +23124,17 @@ "classic phenylketonuria" "mediastinal soft tissue cancer" "orofacial cleft" - "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "4-hydroxyhippurate measurement"@en "congenital patella dislocation, unilateral" "obsolete_dystrophic epidermolysis bullosa, nails only" "breast synovial sarcoma" + "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" + "aortic malformation" "organic heterocyclic compound" "level of collagen alpha-1(XVIII) chain in blood" "Absent pubic hair" - "aortic malformation" "autonomic neuropathy" "Gossypium arboreum" "blue rubber bleb nevus" @@ -23282,8 +23283,8 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" - "vegetative shoot apex" "interferon-inducible protein AIM2" + "vegetative shoot apex" "Duane-radial ray syndrome" "NS-seq" "galanin-like peptide" @@ -23451,10 +23452,10 @@ "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" - "hypopigmentation of the skin" "isoursodeoxycholate sulfate (2) measurement" - "CAL62" "transforming growth factor-alpha measurement" + "hypopigmentation of the skin" + "CAL62" "apolipoprotein E measurement" "obsolete_ventral hyoid arch" "anhedonia measurement" @@ -23572,11 +23573,11 @@ "level of apolipoprotein A-I-binding protein in blood serum" "hypochromic anemia" "familial chilblain lupus" - "obsolete_X-linked cerebellar ataxia" - "quinoclamin measurement" "ephemeral fever" "transcription factor CP2-like protein 1" + "quinoclamin measurement" "San Feliu ecotype" + "obsolete_X-linked cerebellar ataxia" "obsolete_Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" "obsolete_combined oxidative phosphorylation defect type 4" "ploidy" @@ -23587,8 +23588,8 @@ "trypsinogen deficiency" "mucin‐16 measurement"@en "formin-like protein 1" - "autosomal dominant spastic paraplegia type 9" "ETS translocation variant 2" + "autosomal dominant spastic paraplegia type 9" "Endosteal sclerosis - cerebellar hypoplasia" "idiopathic anaphylaxis" "brucellosis" @@ -23617,8 +23618,8 @@ "Pallister-W syndrome" "visuospatial impairment" "fibrosarcoma" - "obsolete genetic transient congenital hypothyroidism" "obsolete_short stature-heart defect-craniofacial anomalies syndrome" + "obsolete genetic transient congenital hypothyroidism" "nanogram per liter" "level of myomesin-3 in blood serum" "U8 snoRNA-decapping enzyme" @@ -23655,8 +23656,8 @@ "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" "linear atrophoderma of Moulin" - "anterior chamber depth measurement" "cancer-related condition" + "anterior chamber depth measurement" "interleukin-31" "level of twinfilin-2 in blood serum" "signal transducer and activator of transcription 3 measurement" @@ -23664,8 +23665,8 @@ "(S)-2-hydroxyoctadecanoate" "Gait ataxia" "Isolated follicle stimulating hormone deficiency" - "Sezary's disease" "level of transcription elongation factor A protein-like 5 in blood serum" + "Sezary's disease" "Myocardial necrosis" "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "DNA repair endonuclease XPF" @@ -23674,8 +23675,8 @@ "neurofibromatosis type 2" "level of forkhead box protein O3 in blood serum" "exercise" - "acquired factor X deficiency" "Dysostosis with limb and face anomalies as a major feature" + "acquired factor X deficiency" "neuroinflammatory disorder"@en "olfactory epithelium" "RTS3b" @@ -23684,8 +23685,8 @@ "Epstein-Barr virus infection" "patterned dystrophy of the retinal pigment epithelium" "E3 ubiquitin-protein ligase ZFP91" - "obsolete_central areolar choroidal dystrophy" "X-21658 measurement" + "obsolete_central areolar choroidal dystrophy" "SHP77" "DnaJ homolog subfamily B member 14 measurement" "obsolete hereditary dentin defect" @@ -23708,8 +23709,8 @@ "level of DnaJ homolog subfamily C member 11 in blood serum" "Corpuscular Hemoglobin Content" "Ulnar bowing" - "obsolete_familial generalized lentiginosis" "S-1-pyrroline-5-carboxylate measurement" + "obsolete_familial generalized lentiginosis" "Nager syndrome" "segmentation 1-4 somites" "protein LTO1 homolog" @@ -23735,9 +23736,9 @@ "hepatitis B virus infection" "future forebrain" "level of signal-regulatory protein gamma in blood serum" + "obsolete_N syndrome" "ciglitazone" "basophilic metamyelocyte" - "obsolete_N syndrome" "Autosomal recessive spastic paraplegia type 24" "1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement" "high fat diet" @@ -23784,8 +23785,8 @@ "obsolete other inborn metabolic disease" "folic acid" "urethra adenocarcinoma" - "MAF" "immunodeficiency 62" + "MAF" "very low density lipoprotein cholesterol change measurement" "small VCP/p97-interacting protein" "cingulate cortex measurement" @@ -23822,16 +23823,16 @@ "hereditary spastic paraplegia 34" "infantile bilateral striatal necrosis" "Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells" - "obsolete_lateral meningocele syndrome" "level of protein BTG4 in blood serum" "superoxide dismutase [Cu-Zn]" + "obsolete_lateral meningocele syndrome" "1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement" "renal glomerulus" "obsolete_disorder of mineral absorption and transport" "pregnancy-specific beta-1-glycoprotein 8" "muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12"@en - "thyroid neoplasm" "obsolete isolated brachycephaly" + "thyroid neoplasm" "atrioventricular valve anomaly" "X-12990--docosapentaenoic acid n6-DPA measurement" "Cervus elaphus hispanicus" @@ -23843,8 +23844,8 @@ "minocycline" "translin" "obsolete_primary bone dysplasia with increased bone density" - "obsolete_lung" "obsolete_Hernández-Aguirre Negrete syndrome" + "obsolete_lung" "LIM domain-containing protein 1" "Vibrio harveyi ATCC BAA-1116" "cellular tumor antigen p53" @@ -23889,8 +23890,8 @@ "protein lin-7 homolog A" "level of macrophage receptor MARCO in blood" "Myoclonus" - "obsolete_porphyria" "Schaaf-Yang syndrome" + "obsolete_porphyria" "peripheral blood stem cell" "free cholesterol to total lipids in medium VLDL percentage " "Nephrocalcinosis" @@ -23906,9 +23907,9 @@ "obsolete_trigeminal placode" "Myasthenia gravis" "obsolete_idiopathic pulmonary arterial hypertension" - "triacylglycerol 56:3 measurement"@en "specific language disorder" "obsolete_thyroid stimulating hormone measurement" + "triacylglycerol 56:3 measurement"@en "tricho-retino-dento-digital syndrome" "level of putative peptidyl-tRNA hydrolase PTRHD1 in blood" "obsolete congenital disorder of glycosylation with deafness as a major feature" @@ -23986,8 +23987,8 @@ "obsolete_Amelia" "level of glucose-fructose oxidoreductase domain-containing protein 2 in blood" "lymphocyte antigen 6 complex locus protein G6d" - "herpes simplex encephalitis, susceptibility to, 4" "Anaplastic Large Cell Lymphoma, ALK-Negative" + "herpes simplex encephalitis, susceptibility to, 4" "response to methotrexate" "superficial mycosis" "childhood malignant kidney neoplasm" @@ -24016,8 +24017,8 @@ "obsolete_Nathalie syndrome" "interferon alpha" "PEST proteolytic signal-containing nuclear protein" - "obsolete_familial flecked retinopathy" "level of immunoglobulin lambda constant 2 (human) in blood" + "obsolete_familial flecked retinopathy" "embryonic stage 5" "Sphingomyelin (d18:1/24:1, d18:2/24:0) measurement" "obsolete_COG8-CDG" @@ -24054,8 +24055,8 @@ "skin hydration measurement" "obsolete_distal trisomy 3p" "vulva fibroepithelial polyp" - "Ruvalcaba syndrome" "homocysteine metabolic process" + "Ruvalcaba syndrome" "obsolete_DOORS syndrome" "citrate(3-)" "Langerhans cell" @@ -24127,8 +24128,8 @@ "obsolete_mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "Theiler stage 27" "sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement" - "nonsyndromic congenital nail disorder 1" "esophageal small cell neuroendocrine carcinoma" + "nonsyndromic congenital nail disorder 1" "level of Rab GTPase-binding effector protein 1 in blood" "NSCR" "beta-1,4-galactosyltransferase 7" @@ -24143,9 +24144,9 @@ "liver CD103-positive dendritic cell" "severe hypophosphatasia" "obsolete_polymorphonuclear leukocyte" + "X-linked lymphoproliferative disease" "erythrocyte" "collagen alpha-1(XXIII) chain measurement" - "X-linked lymphoproliferative disease" "NALM1" "Silverman-Handmaker type dyssegmental dysplasia" "artesunate" @@ -24263,11 +24264,11 @@ "Bm3 B cell" "obsolete_response to glucocorticoid" "obsolete_thiopurine S-methyltransferase deficiency" - "Imperforate oropharynx - costo vetebral anomalies" "fluocinolone measurement" "familial benign flecked retina" "childhood testicular neoplasm" "bruxism" + "Imperforate oropharynx - costo vetebral anomalies" "GM12717" "thymic neuroendocrine carcinoma" "level of eukaryotic-type phenylalanine--tRNA ligase alpha subunit in blood" @@ -24365,8 +24366,8 @@ "PRKAG2-related cardiomyopathy" "immunoglobulin superfamily member 2" "1-palmitoylglycerol 1-monopalmitin measurement" - "lincomycin" "level of Phosphatidylcholine (O-16:1_18:0) in blood serum" + "lincomycin" "osteoarthritis, hip" "megaloblastic anemia" "male breast" @@ -24408,8 +24409,8 @@ "spinocerebellar ataxia type 2" "myocardium of ventricle" "obsolete_postaxial acrofacial dysostosis" - "129P3/J"@en "endometrial endometrioid adenocarcinoma, variant with squamous differentiation" + "129P3/J"@en "RN33B" "pancreatic mucinous cystadenoma" "mature CD14-positive dermal dendritic cell" @@ -24441,10 +24442,10 @@ "caspase recruitment domain-containing protein 19" "obsolete rare male infertility due to adrenal disorder of genetic origin" "protein unc-93 homolog B1 measurement" - "sugar sweetened beverage consumption measurement" "low fat diet" "GM17157" "level of golgin subfamily A member 7 in blood" + "sugar sweetened beverage consumption measurement" "septin-6" "peritoneal benign neoplasm" "obsolete_Cataract-glaucoma" @@ -24461,8 +24462,8 @@ "level of arginase-2, mitochondrial in blood serum" "CS57727" "lymphangitis" - "brachial artery" "Hypertriglyceridemia" + "brachial artery" "early-onset parkinsonism-intellectual disability syndrome" "level of liprin-alpha-1 in blood serum" "loxoprofen" @@ -24599,11 +24600,11 @@ "Autosomal recessive spastic paraplegia type 25" "Ara-C-resistant murine leukemia" "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement" - "hydranencephaly" "progesterone-receptor positive breast cancer" + "hydranencephaly" "level of period circadian protein homolog 3 in blood" - "DNA-directed RNA polymerases I, II, and III subunit RPABC1" "level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum" + "DNA-directed RNA polymerases I, II, and III subunit RPABC1" "serpinopathy" "Clostridium beijerinckii" "level of protein-glutamine gamma-glutamyltransferase K in blood serum" @@ -24622,11 +24623,11 @@ "level of collagen type II alpha chain in blood serum" "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" "GM17235" + "Otitis media" "obsolete_pancreas primordium" "obsolete visceral malformation of the liver, biliary tract, pancreas or spleen" "inflammatory diarrhea" "level of kelch-like protein 7 in blood serum" - "Otitis media" "aortic malignant tumor" "MOMO syndrome" "obsolete_avascular necrosis of genetic origin" @@ -24693,8 +24694,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "Familial cold urticaria" "insulin-resistance syndrome type A" + "Familial cold urticaria" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -24859,9 +24860,9 @@ "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "thioredoxin reductase 1, cytoplasmic measurement" "microfibrillar-associated protein 2" + "Col-3" "obsolete_otic lateral line neuromast" "NALM6" - "Col-3" "level of fibroblast growth factor 3 in blood serum" "ADP-ribosylation factor-binding protein GGA1" "lissencephaly with cerebellar hypoplasia type E" @@ -24883,8 +24884,8 @@ "extrahepatic bile duct adenocarcinoma" "obsolete dermis elastic tissue disorder" "obsolete_hyosymplectic cartilage" - "X-04357 measurement" "worry measurement" + "X-04357 measurement" "nuc-ChIP-seq" "dyssegmental dysplasia-glaucoma syndrome" "cardiac muscle tissue" @@ -25013,9 +25014,9 @@ "disorder of development or morphogenesis, non-human animal" "varicocele" "Female infertility due to fertilization defect" - "Kandori fleck retina" "Delphinapterus leucas" "level of tripartite motif-containing protein 5 in blood" + "Kandori fleck retina" "myocardial zonula adherens protein" "intestine carcinoma in situ" "level of laminin subunit alpha-2 in blood serum" @@ -25027,8 +25028,8 @@ "T1 tumor stage" "transforming acidic coiled-coil-containing protein 3" "SLIT and NTRK-like protein 2" - "draxin" "AG07307" + "draxin" "uterine ligament" "meningeal neoplasm" "level of Sterol ester (27:1/20:2) in blood serum" @@ -25133,15 +25134,15 @@ "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "translation machinery-associated protein 16" + "Salivary Gland Acinic Cell Carcinoma" "level of RING finger protein 24 in blood serum" "aldehyde dehydrogenase, dimeric NADP-preferring" - "Salivary Gland Acinic Cell Carcinoma" "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" - "alpha-2,8-sialyltransferase 8F measurement" "level of adenylate kinase 4, mitochondrial in blood serum" "mucosal type mast cell" + "alpha-2,8-sialyltransferase 8F measurement" "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "hemangiopericytoma, malignant" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" @@ -25162,9 +25163,9 @@ "spinocerebellar ataxia type 35" "obsolete_Hypermethioninemia encephalopathy due to adenosine kinase deficiency" "oculocutaneous albinism type 5" + "Autosomal recessive spastic paraplegia type 62" "benign neoplasm of peripheral nervous system" "hyperprolinemia type 2" - "Autosomal recessive spastic paraplegia type 62" "protein phosphatase 1L measurement" "obsolete_response to tetracyclic antidepressant" "obsolete_Graham Little-Piccardi-Lassueur syndrome" @@ -25176,9 +25177,9 @@ "obsolete insect visual anlage in statu nascendi" "obsolete_duodenum" "sub-cortical nodular heterotopia" - "obsolete_malposition of external canthus" "lipid change measurement" "obsolete_metaphyseal dysplasia, Braun-Tinschert type" + "obsolete_malposition of external canthus" "switch-associated protein 70" "level of V-set domain-containing T-cell activation inhibitor 1 in blood" "juxtacortical osteosarcoma" @@ -25189,13 +25190,13 @@ "2b-RAD" "mammary-digital-nail syndrome" "septin-7" - "obsolete_mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "visceral muscle primordium" - "Progressive supranuclear palsy - parkinsonism" + "obsolete_mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "BMI-adjusted neck circumference" "level of Xaa-Pro dipeptidase in blood" "glycerol-3-phosphate measurement"@en "blood aluminium measurement" + "Progressive supranuclear palsy - parkinsonism" "obsolete_hereditary hyperferritinemia with congenital cataracts" "rhinitis" "Birbeck granule deficiency" @@ -25215,8 +25216,8 @@ "urinary system neoplasm" "color vision disorder" "caffeic acid sulfate measurement" - "ADP-ribosylhydrolase ARH3" "ventral imaginal tissue" + "ADP-ribosylhydrolase ARH3" "nephronectin" "OSS" "outer mitochondrial transmembrane helix translocase" @@ -25277,12 +25278,12 @@ "X-linked cerebellar ataxia" "Lactococcus lactis subsp. hordniae" "BOS complex subunit NCLN" - "abnormal result of function studies" "antibacterial drug" "level of death-associated protein kinase 1 in blood serum" "Partial agenesis of the corpus callosum" "mature T-cell and NK-cell non-Hodgkin lymphoma" "level of microtubule-associated serine/threonine-protein kinase 4 in blood serum" + "abnormal result of function studies" "Mirror polydactyly - vertebral segmentation - limbs defects" "level of protein FAM221B in blood serum" "obsolete_Rare genetic myoclonus" @@ -25329,10 +25330,10 @@ "level of guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 in blood serum" "MHC-II-negative classical monocyte" "level of protein-glutamine gamma-glutamyltransferase 2 in blood serum" - "stathmin-4 measurement" "tricho-dento-osseous syndrome" "3-Indolepropionic acid to 4-Hydroxybenzaldehyde ratio" "cataract-ataxia-deafness syndrome" + "stathmin-4 measurement" "CA1 field of hippocampus" "obsolete syndromic renal or urinary tract malformation" "Keloid" @@ -25387,12 +25388,12 @@ "feeling miserable measurement" "response to placebo" "autosomal dominant cataract" - "level of receptor-type tyrosine-protein phosphatase H in blood serum" "Rare constitutional hemolytic anemia" + "level of receptor-type tyrosine-protein phosphatase H in blood serum" "Angiolipoma" "indole-3-propionate measurement"@en - "hair shaft" "negative regulation of saliva secretion" + "hair shaft" "probable global transcription activator SNF2L2" "level of collagen alpha-1(XIII) chain in blood serum" "malignant hypertension" @@ -25476,8 +25477,8 @@ "early lymphoid progenitor" "sarcosinemia" "interleukin enhancer-binding factor 2" - "6-propyl-2-thiouracil" "Gibberella pulicaris" + "6-propyl-2-thiouracil" "esophageal leukoplakia" "triclosan measurement"@en "factor V and factor VIII, combined deficiency of, type 1" @@ -25490,9 +25491,9 @@ "obsolete_bathing suit ichthyosis" "Pneumothorax" "axial mesoderm" - "tumor necrosis factor alpha-induced protein 3 measurement" "monilethrix" "NEK9-related lethal skeletal dysplasia" + "tumor necrosis factor alpha-induced protein 3 measurement" "level of nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 in blood" "triacylglycerol 56:5 measurement"@en "open iniencephaly" @@ -25551,11 +25552,11 @@ "Treponema pallidum" "obsolete_syndromic aniridia" "Theiler stage 1" + "secondary biliary cirrhosis" "glottis verrucous carcinoma" "Gephyrocapsa oceanica" "Marden-Walker syndrome" "acquired ichthyosis" - "secondary biliary cirrhosis" "intellectual disability-strabismus syndrome" "megakaryocyte-associated tyrosine-protein kinase measurement" "skeletal muscle tissue" @@ -25566,14 +25567,14 @@ "umbilical artery" "Combined hyperlipidemia" "obsolete_Prata-Liberal-Goncalves syndrome" - "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities" "Bloom syndrome" + "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities" "tetratricopeptide repeat protein 33" "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" "rap guanine nucleotide exchange factor 5 measurement" "obsolete_mitochondrial DNA deletion syndrome with progressive myopathy" - "Delayed gross motor development" "obsolete_Ornithine transcarbamylase deficiency"@en + "Delayed gross motor development" "ICF syndrome" "iminodiacetate (IDA) measurement" "pregnenolone sulfate" @@ -25614,8 +25615,8 @@ "tomoregulin-1" "obsolete_motor cortex" "obsolete_alopecia" - "pyridoxate measurement"@en "homogentisate 1,2-dioxygenase" + "pyridoxate measurement"@en "obsolete autosomal thrombocytopenia with normal platelets" "embryonic stage 7" "necrotizing sialometaplasia" @@ -25623,9 +25624,9 @@ "(2-hydroxyphenyl)acetate" "SERKAL syndrome" "rhombomere 1" + "gait apraxia" "carboxypeptidase M measurement" "level of choriogonadotropin subunit beta in blood serum" - "gait apraxia" "obsolete_distal 7q11.23 microdeletion syndrome" "level of hydroxysteroid dehydrogenase-like protein 2 in blood serum" "X-linked intellectual disability - cubitus valgus - dysmorphism" @@ -25643,9 +25644,9 @@ "obsolete_Marshall syndrome" "obsolete_neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" + "A/J" "Saccharomyces pastorianus Weihenstephan 34/70" "Atelis syndrome 2" - "A/J" "thrombocytopenia-absent radius syndrome" "leiomyosarcoma of the cervix uteri" "heneicosapentaenoate (21:5n3) measurement" @@ -25675,8 +25676,8 @@ "protein DEPP measurement" "level of tomoregulin-1 in blood serum" "level of histone RNA hairpin-binding protein in blood serum" - "Landsberg ecotype" "health-related quality of life measurement"@en + "Landsberg ecotype" "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" "X-12730 measurement" "hematopoietic and lymphoid cell neoplasm" @@ -25752,11 +25753,11 @@ "level of hamartin in blood" "malunion fracture" "Hirschsprung disease - type D brachydactyly" + "obsolete_Charcot-Marie-Tooth disease type 1F" "Vaginal Carcinosarcoma" "gastrointestinal lymphoma" "level of laminin subunit alpha-3 in blood serum" "scavenger receptor class B member 1" - "obsolete_Charcot-Marie-Tooth disease type 1F" "adapter SH3BGRL" "platelet-activating factor acetylhydrolase IB subunit alpha1" "length unit" @@ -25791,8 +25792,8 @@ "type III hypersensitivity reaction disease" "angioid streaks" "hereditary isolated aplastic anemia" - "GM12870" "cardiac arrhythmia" + "GM12870" "linear porokeratosis" "serpin A11" "hyperostosis" @@ -25887,8 +25888,8 @@ "2,3,7,8-tetrachlorodibenzodioxine" "C-glycosyltryptophan-to-succinylcarnitine ratio" "arthrogryposis-renal dysfunction-cholestasis syndrome" - "level of clathrin interactor 1 in blood serum" "obsolete_keratoconjunctivitis sicca" + "level of clathrin interactor 1 in blood serum" "carotid body" "obsolete_somatic nervous system" "Disorder of cobalamin metabolism and transport" @@ -26001,8 +26002,8 @@ "Plasmodium falciparum antigen IgG1 measurement" "Avena sativa" "5-hydroxyindoleacetate measurement" - "valerate measurement" "metabolic bone disorder" + "valerate measurement" "uncharacterized protein C1orf185" "feeling nervous measurement" "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 2 in blood serum" @@ -26105,8 +26106,8 @@ "inosine-5'-monophosphate dehydrogenase 1 measurement" "pineal body neoplasm" "hyperuricemia" - "X-13215 measurement" "diabetes mellitus, transient neonatal, 3" + "X-13215 measurement" "bony labyrinth" "level of myosin regulatory light chain 11 in blood serum" "obsolete_brachydactyly of toes, bilateral" @@ -26173,9 +26174,9 @@ "Schizoaffective disorder-bipolar type" "docosapentaenoic acid" "triacylglycerol 56:6 measurement"@en - "level of nucleolar protein 16 in blood" "ubiquitin carboxyl-terminal hydrolase 11" "eye lymphoma" + "level of nucleolar protein 16 in blood" "level of Phosphatidylinositol (16:0_18:1) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-3" "obsolete_2q31.1 microdeletion syndrome" @@ -26185,8 +26186,8 @@ "level of beta-1,4-galactosyltransferase 7 in blood serum" "Rare genetic movement disorder" "lower limb deficiency-hypospadias syndrome" - "apolipoprotein E (isoform E4) measurement" "ataxin-3" + "apolipoprotein E (isoform E4) measurement" "Maternal teratogenic exposure" "acquired schizencephaly" "Fuji cells" @@ -26199,8 +26200,8 @@ "2-hydroxyglutarate(2-)" "triacylglycerol 50:3" "obsolete_ichthyosis hystrix of Curth-Macklin" - "negative domain measurement" "Nasonia vitripennis" + "negative domain measurement" "T-cell surface glycoprotein CD1a" "obsolete_cleithrum" "mitochondrial DNA depletion syndrome, myopathic form" @@ -26243,8 +26244,8 @@ "Isonicotinamide measurement" "4-hydroxyphenylacetylglutamine measurement" "apoptotic protease-activating factor 1" - "glutaredoxin-like protein C5orf63 measurement" "hemorrhagic cystitis" + "glutaredoxin-like protein C5orf63 measurement" "level of carboxypeptidase B in blood serum" "bronchiolitis" "obsolete_mucolipidosis" @@ -26261,14 +26262,14 @@ "nmrA-like family domain-containing protein 1 measurement" "Col-5" "azinomycin B" - "otofaciocervical syndrome" "Angiomatous Meningioma" + "otofaciocervical syndrome" "ADP-ribosylation factor-binding protein GGA3" "serine/threonine-protein kinase Chk1 measurement" "optic choroid disorder" "1-dihomo-linoleoylglycerol (20:2) measurement" - "glyburide" "Set1/Ash2 histone methyltransferase complex subunit ASH2" + "glyburide" "level of Ras/Rap GTPase-activating protein SynGAP in blood" "level of serine/threonine-protein kinase Nek7 in blood serum" "familial cold autoinflammatory syndrome 4" @@ -26438,8 +26439,8 @@ "obsolete_adipose tissue MMHCC" "biliary, renal, neurologic, and skeletal syndrome" "level of laminin subunit alpha-4 in blood serum" - "Genetic gynecological tumor" "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" + "Genetic gynecological tumor" "level of complement C1q-like protein 2 in blood serum" "vitelliform macular dystrophy 4" "nasal cavity carcinoma" @@ -26519,8 +26520,8 @@ "lithium chloride" "level of 5-hydroxy-6,8,11,14-eicosatetraenoic acid in blood plasma" "dislocation" - "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "ND01173" + "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" "GM12871" "experimental cell" "obsolete_Loeys-Dietz syndrome" @@ -26558,8 +26559,8 @@ "Staphylococcus aureus subsp. aureus Mu50" "obsolete_Irish" "SH2 domain-containing adapter protein D" - "obsolete_camptodactyly syndrome, Guadalajara type 2" "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" + "obsolete_camptodactyly syndrome, Guadalajara type 2" "Salivary Gland Basal Cell Adenocarcinoma" "CD3-positive T-lymphocyte count" "Arthrogryposis - renal dysfunction - cholestasis" @@ -26581,9 +26582,9 @@ "level of bone marrow proteoglycan in blood serum" "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" "bone marrow aspiration" - "phosphatidylcholine acyl-alkyl C42:0 measurement" "clomipramine hydrochloride" "eye inflammation" + "phosphatidylcholine acyl-alkyl C42:0 measurement" "level of complement C1q-like protein 4 in blood serum" "cerebral blood flow measurement" "distal trisomy 18q" @@ -26650,8 +26651,8 @@ "Aegilops tauschii subsp. strangulata" "disks large-associated protein 5" "obsolete_scapula" - "respiratory system neoplasm" "autoimmune type 1 diabetes" + "respiratory system neoplasm" "benign soft tissue neoplasm" "obsolete_Korean" "level of EEF1A lysine methyltransferase 1 in blood serum" @@ -26665,8 +26666,8 @@ "phenytoin" "obsolete rare hereditary systemic disease with peripheral neuropathy" "LysoPC 14:0 measurement" - "obsolete_brachydactyly" "LN-428" + "obsolete_brachydactyly" "ulcerative proctosigmoiditis" "pseudouridylate synthase TRUB1" "autosomal dominant limb-girdle muscular dystrophy type 1G" @@ -26705,8 +26706,8 @@ "Kury-Isidor syndrome" "level of complement receptor type 2 in blood" "transmembrane protease serine 6" - "congenital radioulnar synostosis" "osteoarthritis, hand" + "congenital radioulnar synostosis" "Recurrent hand flapping" "mucolipidosis type III, alpha/beta" "response to antibiotic" @@ -26759,8 +26760,8 @@ "N-acetylisoleucine measurement" "protein FAM3C" "cytotoxic t-lymphocyte protein 4 measurement" - "cysteine-rich with EGF-like domain protein 1 measurement" "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy" + "cysteine-rich with EGF-like domain protein 1 measurement" "urea cycle disorder" "level of CD320 molecule in blood serum" "GTPase IMAP family member 6" @@ -26772,8 +26773,8 @@ "level of MAGUK p55 subfamily member 2 in blood serum" "optic atrophy 3" "level of SH3 and cysteine-rich domain-containing protein in blood serum" - "obsolete_bleeding diathesis due to a collagen receptor defect" "level of signaling threshold-regulating transmembrane adapter 1 in blood serum" + "obsolete_bleeding diathesis due to a collagen receptor defect" "Disorder of fatty acid oxidation and ketone body metabolism" "7-ketodeoxycholate measurement" "Columbia ecotype" @@ -26834,10 +26835,10 @@ "Familial amyloidosis, Finnish type" "level of cholinesterase in blood" "obsolete_oculootodental syndrome" - "Macular degeneration" "1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement" - "RING-type E3 ubiquitin-protein ligase PPIL2" + "Macular degeneration" "alpha-hydroxyisovalerate measurement" + "RING-type E3 ubiquitin-protein ligase PPIL2" "level of pituitary adenylate cyclase-activating polypeptide in blood serum" "obsolete_blastema" "cardiovascular age measurement"@en @@ -26940,10 +26941,10 @@ "GM17294" "viral respiratory tract infection" "Streptococcus equi" - "obsolete_Wiedemann-Rautenstrauch syndrome" "assay by long read sequencer" "lean body mass" "level of endoplasmic reticulum aminopeptidase 2 in blood serum" + "obsolete_Wiedemann-Rautenstrauch syndrome" "Cloverleaf skull - asphyxiating thoracic dysplasia" "thyroid cancer" "ubiquitin carboxyl-terminal hydrolase 12" @@ -27020,9 +27021,9 @@ "obsolete_mucopolysaccharidosis" "obsolete_20q11.2 microduplication syndrome" "benign neoplasm of exocrine pancreas" - "Tritanopia" "gamma-carboxy-L-glutamic acid zwitterion(2-)" "obsolete_osteogenesis imperfecta" + "Tritanopia" "Terminal limb defects" "GM17845" "contractures-ectodermal dysplasia-cleft lip/palate syndrome" @@ -27202,8 +27203,8 @@ "triacylglycerol 54:0 measurement" "NCI-H1048" "casein kinase I isoform gamma-2 measurement" - "Phenylacetyl-L-glutamine measurement" "obsolete_Braddock syndrome" + "Phenylacetyl-L-glutamine measurement" "polyunsaturated fatty acids to total fatty acids percentage " "obsolete_head visceral muscle primordium" "atrioventricular septal defect 5" @@ -27267,13 +27268,13 @@ "methylglyoxal" "lacrimoauriculodentodigital syndrome 3" "behenoylcarnitine (C22) measurement" - "1-arachidonoylglycerophosphoethanolamine measurement" "obsolete_response to vancomycin" "circadian rhythm sleep disorder" "familial ovarian carcinoma" "level of NF-kappa-B essential modulator in blood serum" "beta-adducin" "progressive bifocal chorioretinal atrophy" + "1-arachidonoylglycerophosphoethanolamine measurement" "level of histone H2B type 3-B in blood serum" "Drop-ChIP" "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" @@ -27310,8 +27311,8 @@ "posterior corneal dystrophy" "resting heart rate" "obsolete_response to erlotinib" - "ariboflavinosis" "plant cell" + "ariboflavinosis" "level of cytokine-dependent hematopoietic cell linker in blood serum" "level of proteoglycan 3 in blood serum" "whole plant fruit ripening stage" @@ -27324,8 +27325,8 @@ "orofaciodigital syndrome VIII" "phosphatidylcholine acyl-alkyl C42:1 measurement" "level of complement C1q tumor necrosis factor-related protein 1 in blood serum" - "hormone measurement" "gastric caecum primordium" + "hormone measurement" "obsolete_taproot" "level of killer cell lectin-like receptor subfamily D member 1 in blood" "in utero exposure measurement" @@ -27342,8 +27343,8 @@ "autosomal recessive dyskeratosis congenita 4" "sensory perception of sound" "LysoPC 16:0 measurement" - "Nthy-ori 3-1" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" + "Nthy-ori 3-1" "Missing ribs" "obsolete_IVIC syndrome" "surfactant" @@ -27517,14 +27518,14 @@ "benign connective and soft tissue neoplasm" "level of transmembrane emp24 domain-containing protein 9 in blood serum" "obsolete_Charcot-Marie-Tooth disease" - "Lymphangiosarcoma" "simian immunodeficiency virus infection" "blood copper measurement" "Brainstem dysplasia" + "Lymphangiosarcoma" "E3 ubiquitin-protein ligase HECW1 measurement" - "obsolete_atresia of small intestine" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" + "obsolete_atresia of small intestine" "actin filament-associated protein 1-like 1" "indoleamine 2,3-dioxygenase 1" "inherited mitral valve disease" @@ -27544,8 +27545,8 @@ "C-type natriuretic peptide" "cytochrome c oxidase subunit 6B1" "microspherophakia-metaphyseal dysplasia syndrome" - "Dementia" "nuclear nucleic acid-binding protein C1D measurement" + "Dementia" "steroid biosynthetic process" "congenital limb malformation" "methionine catabolic process" @@ -27595,10 +27596,10 @@ "combined immunodeficiency due to partial RAG1 deficiency" "obsolete_bullous skin disease" "S3" + "cerebellum growth measurement" "cerebral artery stenosis" "protein FAM118A" "obsolete_presumptive neural plate" - "cerebellum growth measurement" "obsolete_genetic hyperparathyroidism" "muscular dystrophy-white matter spongiosis syndrome" "obstructive jaundice" @@ -27643,8 +27644,8 @@ "acetaldehyde" "ureter cancer" "obsolete_Teebi-Shaltout syndrome" - "response to ribavirin" "obsolete_Walker-Warburg syndrome" + "response to ribavirin" "lysophosphatidylcholine acyltransferase 2" "phosphatidylcholine 36:5 measurement"@en "cytoplasmic dynein 1 light intermediate chain 1" @@ -27720,17 +27721,17 @@ "skeletal dysplasia" "malonylcarnitine measurement" "extrahepatic cholestasis" - "level of protein kinase C-binding protein NELL2 in blood serum" "visual agnosia" + "level of protein kinase C-binding protein NELL2 in blood serum" "obsolete nonepidermolytic palmoplantar keratoderma" "skull" "X-12405 measurement" "obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" "glycogen storage disease due to aldolase A deficiency" "cerebellin-4 measurement" - "Taurochenodesoxycholic acid measurement" "Peyer's patch B cell" "level of uncharacterized protein C11orf87 in blood serum" + "Taurochenodesoxycholic acid measurement" "amnioserosa" "corticosterone methyloxidase type 2 deficiency" "isolated focal cortical dysplasia type II" @@ -27778,8 +27779,8 @@ "pyroglutamine measurement" "rho guanine nucleotide exchange factor 2 measurement" "level of protein LYRIC in blood" - "10q22.3q23.3 microduplication syndrome" "cardiac valvular dysplasia, X-linked" + "10q22.3q23.3 microduplication syndrome" "Bradycardia" "CD14-low, CD16-positive monocyte" "very-long-chain fatty acyl-CoA dehydrogenase activity" @@ -27800,9 +27801,9 @@ "breast milk collection" "G130" "disorder of galactose and fructose metabolism" - "nicotine withdrawal symptom count" "interleukin 7 measurement" "obsolete_ventral imaginal precursor" + "nicotine withdrawal symptom count" "Mus spretus" "palmar part of manus" "neurodegeneration with brain iron accumulation 4" @@ -27891,8 +27892,8 @@ "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" "presumptive rhombomere 3" - "p phenotype"@en "inflammatory macrophage" + "p phenotype"@en "level of interferon regulatory factor 8 in blood serum" "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" @@ -27965,9 +27966,9 @@ "obsolete_transient neonatal diabetes mellitus" "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" "diabetes mellitus, permanent neonatal 2" - "obsolete_Netherton syndrome" "obsolete_congenital vascular bone syndrome" "legionellosis" + "obsolete_Netherton syndrome" "dysplastic cortical hyperostosis" "Xanthomonas oryzae pv. oryzae PXO99A" "obsolete_adult polyglucosan body disease" @@ -28006,8 +28007,8 @@ "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "obsolete_zygodactyly type 3" "Dandy-Walker malformation-postaxial polydactyly syndrome" - "level of trimeric intracellular cation channel type B in blood serum" "right ventricular stroke volume measurement"@en + "level of trimeric intracellular cation channel type B in blood serum" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" "Autosomal recessive hyper-IgE syndrome" "cholestasis, progressive familial intrahepatic, 8" @@ -28043,26 +28044,26 @@ "PR segment" "lactase-like protein" "partial deletion of the long arm of chromosome 11" + "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-12465 measurement" "HEK-293H" - "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" + "interleukin-17C measurement" "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" - "interleukin-17C measurement" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" + "tobacco smoke exposure measurement" "membrane protein FAM174A" "embryonic day 18.5" "juvenile vascular leaf" "proteasome subunit beta type-1" "lysosomal transport" "primary prostate urothelial carcinoma" - "tobacco smoke exposure measurement" - "obsolete_trigeminal nerve" "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" + "obsolete_trigeminal nerve" "zinc finger protein 41" "ubiquinone measurement" "myosin-binding protein C, slow-type" @@ -28071,8 +28072,8 @@ "Sulfolobus solfataricus" "Emericella nidulans" "obsolete acute myeloid leukemia, NPM1 gene mutation" - "obsolete_EEC syndrome" "ARX-related epileptic encephalopathy" + "obsolete_EEC syndrome" "obsolete_ligneous conjunctivitis" "So-Yang" "Delusion" @@ -28080,10 +28081,10 @@ "synaptogyrin-3" "intellectual disability-epilepsy-extrapyramidal syndrome" "obsolete_preaxial polydactyly of fingers" - "LN-308" "obsolete_scalp-ear-nipple syndrome" - "level of defensin beta 118 in blood serum" + "LN-308" "Ureaplasma urealyticum urethritis" + "level of defensin beta 118 in blood serum" "inborn disorder of biogenic amine metabolism and transport" "microeinstein per square meter per second" "arthrogryposis-severe scoliosis syndrome" @@ -28120,9 +28121,9 @@ "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "Acute tubulointerstitial nephritis" "obsolete_hereditary North American Indian childhood cirrhosis" - "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "level of TRAF family member-associated NF-kappa-B activator in blood serum" "erythritol" + "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" "Saccharomyces mikatae" @@ -28195,8 +28196,8 @@ "ubiquinol-cytochrome-c reductase complex assembly factor 3 measurement" "level of DNA primase small subunit in blood serum" "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase" - "ototoxicity" "e3 ubiquitin-protein ligase parkin measurement" + "ototoxicity" "pleckstrin homology domain-containing family O member 2" "level of vacuolar protein sorting-associated protein 26A in blood serum" "Hyperplasia of the endometrium" @@ -28210,9 +28211,9 @@ "delta-like protein 3" "Infectious encephalitis" "high grade ovarian serous adenocarcinoma" - "colonic pseudo-obstruction" "arthrogryposis multiplex congenita" "leukotriene a-4 hydrolase measurement" + "colonic pseudo-obstruction" "pleural empyema" "megalocornea" "progressive external ophthalmoplegia" @@ -28242,8 +28243,8 @@ "erucate (22:1n9) measurement" "vasomotor rhinitis" "level of cathepsin H in blood" - "infratentorial neoplasm" "interleukin-17D measurement" + "infratentorial neoplasm" "seprase measurement" "endonuclease 8-like 2" "blood chromium measurement" @@ -28271,8 +28272,8 @@ "CD4-positive type I NK T cell secreting interferon-gamma" "tRNA (guanine-N(7)-)-methyltransferase measurement" "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" - "ionomycin" "homeobox protein SIX6" + "ionomycin" "root cap" "GM15061" "complex lethal osteochondrodysplasia" @@ -28330,11 +28331,11 @@ "vestibular labyrinth" "tumor protein p73" "cyclooxygenase 1 inhibitor" - "Alzheimer's disease neuropathologic change" "xylulose kinase" + "Alzheimer's disease neuropathologic change" "indolent primary cutaneous T-cell lymphoma" - "obsolete_X-linked spinocerebellar ataxia type 4" "cob" + "obsolete_X-linked spinocerebellar ataxia type 4" "Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis" "ITM2B amyloidosis" "Tessier number 6 facial cleft" @@ -28370,8 +28371,8 @@ "X-17371 measurement" "obsolete_Tel Hashomer camptodactyly syndrome" "vesicular integral-membrane protein VIP36 measurement" - "intestine" "obsolete_combined immunodeficiency due to MALT1 deficiency" + "intestine" "Tomato spotted wilt virus" "Alnus glutinosa" "phosphatidylcholine 38:2 measurement"@en @@ -28382,9 +28383,9 @@ "level of phospholipase B-like 1 in blood serum" "Limb hypertonia" "pineal region germinoma" + "obsolete_larynx atresia" "brachyolmia" "level of phosphomannomutase 2 in blood serum" - "obsolete_larynx atresia" "serum VEGFR2 concentration measurement" "L-Proline to 3-Indolepropionic acid ratio" "congenital pseudoarthrosis of the tibia" @@ -28398,8 +28399,8 @@ "carbonic anhydrase 4 measurement" "geroderma osteodysplastica" "skull cancer" - "obsolete_alkaptonuria" "squamous epithelium" + "obsolete_alkaptonuria" "cholesteatoma of attic" "inhibitor" "butyrophilin subfamily 3 member A2" @@ -28559,8 +28560,8 @@ "oligodendrocyte-myelin glycoprotein" "angiopoietin-1 receptor measurement"@en "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" - "level of transcription regulator protein BACH2 in blood serum" "hypopigmentation of eyelid" + "level of transcription regulator protein BACH2 in blood serum" "sleep depth" "obsolete_focal, segmental or multifocal dystonia" "Hypertelorism, Teebi type" @@ -28616,8 +28617,8 @@ "level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood serum" "obsolete_syndromic nail anomaly" "mast syndrome" - "metalloproteinase inhibitor 1 measurement" "level of sulfotransferase 1C4 in blood serum" + "metalloproteinase inhibitor 1 measurement" "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome" "malignant germ cell tumor of corpus uteri" "obsolete_Preaxial polydactyly of toes" @@ -28671,12 +28672,12 @@ "level of zinc finger protein 774 in blood serum" "uterine ligament cancer" "serine-type endopeptidase activity" + "obsolete_autosomal recessive cutis laxa type 1" "Nephrosis - deafness - urinary tract - digital malformations" "Elevated urinary delta-aminolevulinic acid" "HEK293" - "obsolete_autosomal recessive cutis laxa type 1" - "HUES53" "obsolete_Gorlin syndrome" + "HUES53" "Bloody diarrhea" "temporal lobe" "glutamine conjugate of C6H10O2 (2) measurement" @@ -28705,8 +28706,8 @@ "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" "female genital tract fistula" "developmental and epileptic encephalopathy 103" - "dihydroxy docosatrienoic acid measurement" "obsolete_Meckel syndrome" + "dihydroxy docosatrienoic acid measurement" "oculocutaneous albinism type 4" "Postaxial polydactyly of toes" "Hypervolemia" @@ -28757,17 +28758,17 @@ "obsolete_Oculopharyngodistal myopathy" "cytokine" "hereditary pulmonary alveolar proteinosis" - "protein FAM221A" "rheumatic disease" + "protein FAM221A" "macroglossia" "lipoprotein measurement" "apocrine sweat gland cancer" "BTB/POZ domain-containing protein KCTD5 measurement" "obsolete_root nodule" "medical procedure" + "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" "presumptive rhombomere 4" - "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en "vitamin supplement exposure measurement" "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" "zinc finger protein 410" @@ -28810,8 +28811,8 @@ "triacylglycerol 44:1" "obsolete_corneal limbus" "cryptic phenotype measurement"@en - "G121" "myosin-binding protein C, fast-type" + "G121" "inborn serine deficiency" "Rare parkinsonian syndrome due to genetic neurodegenerative disease" "autoimmune primary ovarian failure" @@ -28877,9 +28878,9 @@ "inherited obesity" "arylsulfatase K measurement" "rapid eye movement sleep disorder" + "1-docosahexaenoylglycerophosphocholine measurement" "level of inhibitor of nuclear factor kappa-B kinase subunit beta in blood serum" "lung meningioma" - "1-docosahexaenoylglycerophosphocholine measurement" "Droplet-CirSeq" "level of MHC class I histocompatibility antigen, alpha chain G in blood serum" "level of espin in blood serum" @@ -28897,8 +28898,8 @@ "polyarteritis nodosa, childhoood-onset" "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" - "obsolete_humeral agenesis/hypoplasia, unilateral" "level of protein disulfide isomerase CRELD1 in blood" + "obsolete_humeral agenesis/hypoplasia, unilateral" "parietal cell" "hilar cholangiocarcinoma" "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" @@ -28969,9 +28970,9 @@ "MAM domain-containing protein 2 measurement" "level of protein CWC15 in blood" "Achalasia" + "Polar Spongioblastoma" "alcohol dehydrogenase [NADP(+)] measurement" "serine protease HTRA2, mitochondrial measurement" - "Polar Spongioblastoma" "obsolete_Stüve-Wiedemann syndrome" "latitude coordinate measurement datum"@en "seedhead" @@ -28980,9 +28981,9 @@ "thalamic disorder" "obsolete_Crigler-Najjar syndrome type 2" "bradyopsia" + "methoxychlor measurement"@en "level of protein delta homolog 2 in blood serum" "AB SOLiD 4 System" - "methoxychlor measurement"@en "number of siblings" "obsolete_transient bullous dermolysis of the newborn" "level of Phosphatidylcholine (16:0_18:2) in blood serum" @@ -29086,11 +29087,11 @@ "obsolete_ocular albinism" "hypertrichotic osteochondrodysplasia Cantu type" "BJABK3" - "Rare intellectual disability without developmental anomaly" "level of acid phosphatase type 7 in blood serum" "level of DNA repair endonuclease XPF in blood serum" "glycoprotein Xg measurement" "autosomal recessive optic atrophy, OPA7 type" + "Rare intellectual disability without developmental anomaly" "intracranial hemorrhage" "striate palmoplantar keratoderma" "random RNA-Seq across whole transcriptome" @@ -29102,21 +29103,21 @@ "Venezuelan equine encephalitis" "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" + "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "childhood brain germinoma" "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" + "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "obsolete_duodenal atresia" - "very long-chain saturated fatty acid measurement" "cortisone measurement" + "very long-chain saturated fatty acid measurement" "posterior lateral line nerve" "Macrotia" "GRACILE syndrome" - "N-acetylcitrulline measurement" "permanent congenital hypothyroidism" + "N-acetylcitrulline measurement" "partial duplication of chromosome 12" "periplakin" "SW954" @@ -29134,10 +29135,10 @@ "level of Sphingofungin B in blood serum" "bakers yeast extract measurement" "TRAP-Seq" - "Rare hereditary metabolic disease with peripheral neuropathy" "schwannomatosis" "level of surfeit locus protein 1 in blood serum" "MAGUK p55 subfamily member 2" + "Rare hereditary metabolic disease with peripheral neuropathy" "EP300-interacting inhibitor of differentiation 3" "protein S100-P" "level of protein YIPF6 in blood serum" @@ -29154,9 +29155,9 @@ "NCI-H1623" "whole plant fruit ripening complete stage" "charged multivesicular body protein 3 measurement" + "PC-3M cell" "callous character" "fetal thymocyte" - "PC-3M cell" "Tauroursodeoxycholic acid measurement" "infantile liver failure" "obsolete_GMS syndrome" @@ -29193,14 +29194,14 @@ "cerebral infarction" "T-47D cell" "1-palmitoyl-2-adrenoyl-GPC (16:0/22:4) measurement" - "obsolete_X-linked intellectual disability, Stevenson type" "phosphatidylcholine O-36:3" "Aicardi syndrome" + "obsolete_X-linked intellectual disability, Stevenson type" "Abnormality of taste sensation" "left cardiac atrium" + "porphobilinogen deaminase measurement" "isolated microphthalmia 4" "insect head capsule" - "porphobilinogen deaminase measurement" "tricuspid atresia" "level of sorting nexin-1 in blood serum" "L-lactate dehydrogenase C chain" @@ -29287,11 +29288,11 @@ "level of prokineticin-2 in blood serum" "cadherin-1 measurement" "Tossa de Mar ecotype" - "coagulation factor IX measurement" "Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability" + "coagulation factor IX measurement" "ocular motility disease" - "proteasome subunit beta type-2" "1-dihomo-linoleoyl-GPC (20:2) measurement" + "proteasome subunit beta type-2" "protein arginine N-methyltransferase 3" "obsolete_glucocorticoid resistance" "olfactory marker protein" @@ -29327,10 +29328,10 @@ "nuclear factor erythroid 2-related factor 1 measurement" "protein jagged-1 measurement" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8" + "Holoprosencephaly - craniosynostosis" "low affinity immunoglobulin gamma Fc region receptor II-a measurement" "skin barrier function measurement" "obsolete marginal papular palmoplantar keratoderma" - "Holoprosencephaly - craniosynostosis" "Melon necrotic spot virus" "low density lipoprotein receptor adapter protein 1" "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" @@ -29385,10 +29386,10 @@ "pulmonary mucoepidermoid carcinoma" "Furuncle" "chromodomain-helicase-DNA-binding protein 7 measurement" - "Renal pseudohypoaldosteronism type 1" "GM17779" "t-SNARE domain-containing protein 1" "CORL88" + "Renal pseudohypoaldosteronism type 1" "Sertoli Cell-Only Syndrome" "respiratory infections, recurrent, and failure to thrive with or without diarrhea" "RL952" @@ -29491,8 +29492,8 @@ "obsolete_circadian rhythm" "interferon regulatory factor 2 measurement" "multiple PDZ domain protein" - "root" "IgG plasmablast" + "root" "SPET-seq" "cholesteryl esters to total lipids in IDL percentage " "distal trisomy 11q" @@ -29510,9 +29511,9 @@ "obsolete_bronchiole" "progeroid and marfanoid aspect-lipodystrophy syndrome" "HeLa" - "butyrophilin-like protein 9 measurement" "obsolete hypoglossia/aglossia" "ureter adenocarcinoma" + "butyrophilin-like protein 9 measurement" "3 inflorescence detectable stage" "obsolete_root cap" "Lagopus lagopus scotica" @@ -29561,9 +29562,9 @@ "hypermanganesemia with dystonia" "X-linked chondrodysplasia punctata 2" "all-cis-5,8,11,14,17-icosapentaenoic acid" + "Epstein-Barr virus early antigen seropositivity" "coagulation factor VII" "level of collagen alpha-1(V) chain in blood" - "Epstein-Barr virus early antigen seropositivity" "acute panmyelosis with myelofibrosis" "HUES6" "obsolete_rectal duplication" @@ -29622,9 +29623,9 @@ "ampulla of vater squamous cell carcinoma" "familial isolated congenital asplenia" "microphthalmia" - "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" "obsolete_hip" "Endometrial Endometrioid Adenocarcinoma" + "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" "obsolete corneogoniodysgenesis" "Olmsted syndrome" "disintegrin and metalloproteinase domain-containing protein 29" @@ -29674,8 +29675,8 @@ "behenoyl dihydrosphingomyelin (d18:0/22:0) measurement" "Primary bone dysplasia" "obsolete_congenital analbuminemia" - "valerate (5:0) measurement" "osteoarthritis, knee" + "valerate (5:0) measurement" "G1/S-specific cyclin-D2" "ML-DmD20-c2" "MHC class II histocompatibility antigen gamma chain" @@ -29693,13 +29694,13 @@ "Hirschsprung disease - deafness - polydactyly" "level of delta-like protein 3 in blood serum" "LIM domain-binding protein 2" - "X-12524 measurement" "chronic disease" "Spermophilus lateralis" "dual specificity protein phosphatase 21" "ligament cell" - "soluble triggering receptor expressed on myeloid cells 2 measurement" + "X-12524 measurement" "level of Phosphatidylcholine (16:0_18:3) in blood serum" + "soluble triggering receptor expressed on myeloid cells 2 measurement" "congenital disorder of glycosylation, type IIq" "level of synaptotagmin-like protein 1 in blood serum" "band form neutrophil" @@ -29770,8 +29771,8 @@ "ring chromosome 7" "free cholesterol:total lipids ratio"@en "triacylglycerol 46:0 measurement"@en - "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" "age of onset of anorexia nervosa" + "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" "aspartyl/asparaginyl beta-hydroxylase measurement" "vasculitis" "Thickened earlobes - conductive deafness" @@ -29915,10 +29916,10 @@ "obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "Multinodular goiter - cystic kidney - polydactyly" "casein kinase I isoform delta measurement" + "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "Jacobsen syndrome" "pericarp" "GM17213" - "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "ear infection" "level of pleckstrin homology domain-containing family A member 7 in blood serum" "germ cell" @@ -29975,9 +29976,9 @@ "level of protein AMBP in blood serum" "obsolete Abnormal aggressive, impulsive or violent behavior" "kallikrein, decreased urinary activity of" + "X-23644 measurement" "Brassica carinata x Brassica rapa" "Arm dystonia" - "X-23644 measurement" "magnesium transporter NIPA4" "obsolete_adaxial cells" "X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio" @@ -30111,9 +30112,9 @@ "obsolete posterior fossa malformation" "Child Behaviour Checklist assessment" "obsolete_Prader-Willi syndrome due to imprinting mutation" - "N-acetylglucosaminylasparagine measurement" "leukosialin" "cholesterol in large HDL measurement " + "N-acetylglucosaminylasparagine measurement" "level of YTH domain-containing protein 1 in blood serum" "mediastinitis" "obsolete_Duchenne and Becker muscular dystrophy" @@ -30198,8 +30199,8 @@ "Metanephric Adenoma" "presumptive rhombomere 6" "facial paralysis" - "6-deoxotyphasterol" "C38:6 phosphatidylcholine plasmalogen measurement" + "6-deoxotyphasterol" "X-linked intellectual disability-ataxia-apraxia syndrome" "serine/threonine-protein kinase receptor R3 measurement" "hepatitis B virus, susceptibility to" @@ -30212,8 +30213,8 @@ "galactoside alpha-(1,2)-fucosyltransferase 1" "obsolete_blue rubber bleb nevus" "ribonuclease-like protein 10" - "Arrhythmia" "IgM plasmablast" + "Arrhythmia" "cholesteryl esters to total lipids in large HDL percentage " "distal trisomy 13q" "obsolete_congenital intestinal transport defect" @@ -30290,10 +30291,10 @@ "renal branch of vagus nerve" "level of neuronal pentraxin-1 in blood serum" "Lung agenesis - heart defect - thumb anomalies" - "disintegrin and metalloproteinase domain-containing protein 30" "obsolete organic substance metabolic process" - "foreign body in gastrointestinal tract" + "disintegrin and metalloproteinase domain-containing protein 30" "level of SPRY domain-containing SOCS box protein 1 in blood serum" + "foreign body in gastrointestinal tract" "Musa sp." "mitogen-activated protein kinase kinase kinase 3" "DSBCapture" @@ -30328,13 +30329,13 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Galloway-Mowat syndrome 10" "Endometrial Hyperplasia without Atypia" + "Galloway-Mowat syndrome 10" "GM17262" "demyelinating polyneuropathy" + "protein phosphatase 1L" "dense deposit disease" "Glycine max" - "protein phosphatase 1L" "GM12043" "familial mucolipidosis" "spermatogenic failure 47" @@ -30419,14 +30420,14 @@ "level of synaptotagmin-like protein 2 in blood serum" "3-Indolepropionic acid to D-Fructose ratio" "X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction" - "PDZK1-interacting protein 1 measurement" "MDCC-MSB1" "obsolete_back" + "PDZK1-interacting protein 1 measurement" "serologically defined colon cancer antigen 8" "level of acyl-protein thioesterase 2 in blood" + "Oligodontia - cancer predisposition syndrome" "inherited Fanconi renotubular syndrome" "listeriosis" - "Oligodontia - cancer predisposition syndrome" "Short long bone" "basal-like breast carcinoma" "tubulin--tyrosine ligase measurement" @@ -30458,15 +30459,15 @@ "peripheral neuropathy" "diphosphomevalonate decarboxylase" "polydactyly" - "obsolete_lens size anomaly" "KMS-28BM" + "obsolete_lens size anomaly" "level of tryptase delta in blood" "obsolete_basal plate midbrain region" "obsolete_Familial symmetric lipomatosis" "Gastrointestinal hemorrhage" "level of oocyte-secreted protein 2 in blood serum" - "S-6-hydroxywarfarin to S-warfarin ratio measurement" "Acro-fronto-facio-nasal dysostosis" + "S-6-hydroxywarfarin to S-warfarin ratio measurement" "glycosylphosphatidylinositol biosynthesis defect 21" "nicotinamide riboside kinase 2" "level of bone marrow stromal antigen 2 in blood serum" @@ -30482,9 +30483,9 @@ "propionylglycine measurement" "obsolete_progressive myoclonic epilepsy type 3" "leukocyte immunoglobulin-like receptor subfamily A member 4 measurement" + "Lipodystrophy - intellectual disability - deafness" "paranasal sinus cancer" "teneurin-4" - "Lipodystrophy - intellectual disability - deafness" "Joubert syndrome 5" "obsolete juvenile absence epilepsy" "breast cancer stage" @@ -30629,10 +30630,10 @@ "obsolete_nemaline myopathy" "Cerebral malformation with epilepsy" "recessive mitochondrial ataxia syndrome" + "obsolete_cone dystrophy with supernormal rod response" "alpha-2-macroglobulin receptor-associated protein measurement" "Vitis vinifera subsp. silvestris" "ovarian granulosa cell tumor" - "obsolete_cone dystrophy with supernormal rod response" "sushi domain-containing protein 4" "dwarfism, intellectual disability, and eye abnormality" "Apert syndrome" @@ -30696,8 +30697,8 @@ "level of endoribonuclease LACTB2 in blood" "microcytic anemia with liver iron overload" "total cholesterol in small VLDL" - "phenylketonuria" "spine bone mineral density" + "phenylketonuria" "ACTH-independent adrenal Cushing syndrome, somatic" "10x 3' v1" "chromosome 6q24-q25 deletion syndrome" @@ -30723,8 +30724,8 @@ "level of protein ZNRD2 in blood" "grange syndrome" "intellectual disability, X-linked 106" - "Combined oxidative phosphorylation defect type 21" "RNA polymerase II elongation factor ELL measurement" + "Combined oxidative phosphorylation defect type 21" "familial thrombomodulin anomalies" "retinol-binding protein 2" "European bat lyssavirus 1" @@ -30735,9 +30736,9 @@ "animal developmental tissue" "diacylglycerol 33:3 measurement" "thrombophilia due to protein S deficiency, autosomal dominant" - "ETS domain-containing protein Elk-3 measurement" "facioscapulohumeral muscular dystrophy 2" "intrathoracic organ injury" + "ETS domain-containing protein Elk-3 measurement" "4-acetamidobutanoate measurement" "malignant melanoma of the mucosa" "carbonic anhydrase-related protein 10 measurement" @@ -30767,8 +30768,8 @@ "sulfasalazine" "interstitial lung disease specific to childhood" "embryonic gonadal ridge" - "cerebellum white matter volume change measurement"@en "ILSXISS3/TejJ" + "cerebellum white matter volume change measurement"@en "T-B+ severe combined immunodeficiency due to CD45 deficiency" "KP-L-RY" "immature Vgamma2-positive thymocyte" @@ -30843,11 +30844,11 @@ "level of telethonin in blood serum" "venom" "obsolete critical COVID-19 infection" - "pregnancy-specific beta-1-glycoprotein 5 measurement" "delirium" "4E-BP1 measurement" "EDICT syndrome" "obsolete_testis" + "pregnancy-specific beta-1-glycoprotein 5 measurement" "obsolete cerebrofaciothoracic dysplasia" "obsolete_monosomy X" "Candidatus Kuenenia stuttgartiensis" @@ -30902,9 +30903,9 @@ "fumarate measurement"@en "congenital plasminogen activator inhibitor type 1 deficiency" "level of ADP-ribosylation factor 4 in blood serum" - "obsolete_hyperprolinemia type 2" "obsolete paralytic facial malformation" "ectopic hormone secretion syndrome associated with neoplasia" + "obsolete_hyperprolinemia type 2" "platelet alpha granule" "Juvenile onset" "orofaciodigital syndrome I" @@ -30984,9 +30985,9 @@ "level of V-type proton ATPase subunit D in blood" "nasopharyngeal teratoma" "hypochromic microcytic anemia" + "postweaning multisystemic wasting syndrome" "transgelin-2 measurement" "peroxiredoxin-5, mitochondrial measurement" - "postweaning multisystemic wasting syndrome" "level of mRNA turnover protein 4 in blood serum" "childhood testicular choriocarcinoma" "Hartnup disease" @@ -31002,8 +31003,8 @@ "lymphocyte antigen 6 complex locus protein G6c measurement" "hypertrophic cardiomyopathy 14" "glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement" - "obsolete_neurofibromatosis-Noonan syndrome" "incontinentia pigmenti" + "obsolete_neurofibromatosis-Noonan syndrome" "N(alpha)-acetyl-L-arginine" "obsolete_bilateral striopallidodentate calcinosis" "Charcot-Marie-Tooth disease type 2" @@ -31025,9 +31026,9 @@ "labelling" "spastic paraplegia 80, autosomal dominant" "temtamy syndrome" - "methyl filtration" "CD103-positive dendritic cell" "fresh specimen" + "methyl filtration" "X-18888 measurement" "obsolete_congenital or early infantile CACH syndrome" "sperm acrosome membrane-associated protein 3 measurement" @@ -31103,13 +31104,13 @@ "precursor lymphoblastic lymphoma/leukemia" "obsolete_extraembryonic tissue" "Snijders Blok-Fisher syndrome" - "Radio-ulnar synostosis - amegakaryocytic thrombocytopenia" - "obsolete_lissencephaly with cerebellar hypoplasia type D" "Abnormal circulating enzyme concentration" + "Radio-ulnar synostosis - amegakaryocytic thrombocytopenia" "CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 measurement" "inherited hypertrophic pyloric stenosis" "Strombus gigas" "autism, susceptibility to, 1" + "obsolete_lissencephaly with cerebellar hypoplasia type D" "protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha" "chromosome 7 disorder" "Mesomelia" @@ -31129,9 +31130,9 @@ "hepatic angiomyolipoma" "cytokine receptor common subunit gamma measurement" "level of leucine-rich repeats and immunoglobulin-like domains protein 1 in blood serum" - "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" "Autosomal dominant osteopetrosis type 1" "pulmonary capillary" + "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" "infectious anterior uveitis" "sweat gland cancer" "vascular toxicity" @@ -31172,8 +31173,8 @@ "alopecia universalis congenita" "AT-rich interactive domain-containing protein 1A" "myopathy with abnormal lipid metabolism" - "CAL-12T" "X-21803 measurement" + "CAL-12T" "CD22-positive, CD38-low small pre-B cell" "intellectual disability, autosomal dominant 58" "Radial deficiency - tibial hypoplasia" @@ -31194,8 +31195,8 @@ "cortical opacity measurement" "hyperparathyroidism 2 with jaw tumors" "level of heterogeneous nuclear ribonucleoprotein F in blood serum" - "Acropora millepora" "level of ubiquitin-like modifier-activating enzyme 6 in blood serum" + "Acropora millepora" "Leber congenital amaurosis with early-onset deafness" "obsolete heterocycle biosynthetic process" "level of integrin alpha-V in blood serum" @@ -31226,6 +31227,7 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 3 in blood serum" "iron(III) dicitrate(3-)" "level of complement component C8 beta chain in blood" + "Genetic cardiac tumor" "level of dual specificity protein phosphatase 15 in blood serum" "natural cytotoxicity triggering receptor 3 measurement" "congenital toxoplasmosis" @@ -31233,12 +31235,11 @@ "isolated delta-storage pool disease" "Pulmonary lymphangiectasia" "Lafora disease" - "Genetic cardiac tumor" "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" - "leukocyte immunoglobulin-like receptor subfamily A member 5 measurement" "pineal complex" + "leukocyte immunoglobulin-like receptor subfamily A member 5 measurement" "butyrylglycine measurement" "tonsillitis" "trichotillomania" @@ -31250,8 +31251,8 @@ "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" - "squamous cell bile duct carcinoma" "Achondrogenesis type 2" + "squamous cell bile duct carcinoma" "ADAMTS13 activity measurement" "obsolete_sarcoidosis" "DNA sequencer" @@ -31352,8 +31353,8 @@ "level of methylglutaconyl-CoA hydratase, mitochondrial in blood serum" "spinocerebellar ataxia type 36" "chronic gonorrhea of cervix" - "testicular seminoma" "hereditary spastic paraplegia 38" + "testicular seminoma" "mevalonate kinase" "brachydactyly" "hyperestrogenism" @@ -31394,14 +31395,14 @@ "obsolete_atrial myocardium" "visceral heterotaxy" "IRIDA syndrome" - "dihydropteridine reductase deficiency" "obsolete_Mucolipidosis type II" - "probable aminopeptidase NPEPL1" + "dihydropteridine reductase deficiency" "reticulum cell sarcoma" - "severe combined immunodeficiency due to CARD11 deficiency" + "probable aminopeptidase NPEPL1" "experiment accession" - "prostaglandin F2 receptor negative regulator measurement" + "severe combined immunodeficiency due to CARD11 deficiency" "trait in response to apixaban" + "prostaglandin F2 receptor negative regulator measurement" "X-23657 measurement" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" @@ -31574,10 +31575,10 @@ "Subcutaneous Panniculitis-Like T-Cell Lymphoma" "obsolete_diencephalic-mesencephalic junction dysplasia" "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" - "obsolete_right atrium" "heart rate" - "level of mucin-13 in blood" "immunoglobulin heavy chain deficiency" + "level of mucin-13 in blood" + "obsolete_right atrium" "hepatocyte growth factor" "a disintegrin and metalloproteinase with thrombospondin motifs 3" "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" @@ -31587,9 +31588,9 @@ "Nephronophthisis" "obsolete_floor plate rhombomere 4" "adenocarcinoma" + "creatine kinase measurement" "pharyngula high-pec" "isobutyryl-CoA dehydrogenase deficiency" - "creatine kinase measurement" "DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio" "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" "organelle membrane" @@ -31621,8 +31622,8 @@ "Combined oxidative phosphorylation defect type 23" "Shigella flexneri" "X-12029 measurement" - "Barcode-Seq" "aggressive" + "Barcode-Seq" "level of protein argonaute-3 in blood serum" "Xq27.3q28 duplication syndrome" "Gray" @@ -31650,11 +31651,11 @@ "Holoprosencephaly - postaxial polydactyly" "coagulation factor XA measurement" "obsolete_hyperbiliverdinemia" - "fibromuscular dysplasia" "friendship satisfaction measurement" "partial duplication of chromosome 3" "deep cell layer (gastrulation)" "Joint stiffness" + "fibromuscular dysplasia" "level of Phosphatidylcholine (16:1_18:2) in blood serum" "chromosome 15q11.2 deletion syndrome" "alpha-(1,3)-fucosyltransferase 11" @@ -31690,8 +31691,8 @@ "Immunodeficiency syndrome with autoimmunity" "level of cAMP-specific 3',5'-cyclic phosphodiesterase 4C in blood serum" "NCI-H2110" - "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "1-oleoyl-sn-glycero-3-phosphoethanolamine" + "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "small ribosomal subunit protein eS25" "metaxin-2" "Rho-related GTP-binding protein RhoD" @@ -31833,8 +31834,8 @@ "inositol polyphosphate 1-phosphatase" "cholesteryl ester 15:0 measurement" "facial nerve" - "Susac Syndrome" "AG08904" + "Susac Syndrome" "extracellular sulfatase Sulf-2 measurement" "Transitional Meningioma" "volume percent" @@ -31847,10 +31848,10 @@ "dietary vitamin E intake measurement" "LP/J" "flavin reductase" + "Familial short QT syndrome" "N-acetylglutamate synthase, mitochondrial" "response to cranial radiation therapy"@en "thioredoxin-interacting protein" - "Familial short QT syndrome" "scaffold attachment factor B2" "collagen alpha-5(VI) chain" "Swiss19" @@ -31862,8 +31863,8 @@ "transient tic disorder" "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" "obsolete dyskinesia, limb and orofacial, infantile-onset" - "congenital enterocyte heparan sulfate deficiency" "GM15072" + "congenital enterocyte heparan sulfate deficiency" "hemocyte (sensu Arthropoda)" "X-12627 measurement" "level of spartin in blood" @@ -31885,9 +31886,9 @@ "fraction E immature B cell" "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" "obsolete_partial deletion of chromosome 12" + "obsolete_Turner syndrome due to structural X chromosome anomalies" "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" - "obsolete_Turner syndrome due to structural X chromosome anomalies" "CS57677" "obsolete_maternal uniparental disomy of chromosome 21" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" @@ -31899,8 +31900,8 @@ "level of prostaglandin reductase 3 in blood serum" "level of ubiquitin-like modifier-activating enzyme 7 in blood serum" "Aedes aegypti" - "obsolete deafness-enamel hypoplasia-nail defects syndrome" "FYVE, RhoGEF and PH domain-containing protein 3" + "obsolete deafness-enamel hypoplasia-nail defects syndrome" "Disorder of urea cycle metabolism and ammonia detoxification" "Absent septum pellucidum" "ventral mesoderm" @@ -31932,8 +31933,8 @@ "NGFI-A-binding protein 2 measurement" "obsolete HTRA1-related cerebral small vessel disease" "augurin measurement" - "obsolete_Lowe-Kohn-Cohen syndrome" "Lowry-Wood syndrome" + "obsolete_Lowe-Kohn-Cohen syndrome" "T5-1" "calciol" "level of ethanolamine kinase 1 in blood serum" @@ -32108,8 +32109,8 @@ "peptide measurement"@en "KMS-34" "Physcomitrella patens" - "obsolete_humero-radial synostosis, bilateral" "nitrofurantoin" + "obsolete_humero-radial synostosis, bilateral" "obsolete_acrofacial dysostosis, Catania type" "Abnormal skull morphology" "Desulfovibrio halophilus" @@ -32125,9 +32126,9 @@ "shigella phage virus seropositivity" "neurogenic locus notch homolog protein 1 measurement" "ig Kappa chain V-I region HK102- like measurement" + "Coronaviridae infectious disease" "segmentation 20-25 somites" "LY294002" - "Coronaviridae infectious disease" "triacylglycerol 48:0 measurement"@en "obsolete_locus coeruleus" "paragraph delayed recall measurement" @@ -32272,8 +32273,8 @@ "level of nuclear receptor subfamily 5 group A member 2 in blood serum" "obsolete_X-linked mandibulofacial dysostosis" "prostaglandin reductase 1 measurement" - "level of anosmin-1 in blood serum" "X-23662 measurement" + "level of anosmin-1 in blood serum" "familial prostate carcinoma" "isocitrate dehydrogenase [NADP] cytoplasmic" "level of transcriptional repressor protein YY1 in blood serum" @@ -32329,9 +32330,9 @@ "level of bifunctional peptidase and arginyl-hydroxylase JMJD5 in blood serum" "Hh-0" "MHC-II-negative non-classical monocyte" + "obsolete_Patterson-Stevenson-Fontaine syndrome" "modified STRT-seq"@en "cofilin-1 measurement" - "obsolete_Patterson-Stevenson-Fontaine syndrome" "personality trait measurement" "ampicillin" "isolated thyrotropin-releasing hormone deficiency" @@ -32407,8 +32408,8 @@ "pyruvate dehydrogenase E3-binding protein deficiency" "norepinephrine secretion, neurotransmission" "cervical adenocarcinoma" - "UL16-binding protein 6" "ILSXISS13/TejJ" + "UL16-binding protein 6" "level of protein S100-P in blood" "level of neurosecretory protein VGF in blood" "EMG: myopathic abnormalities" @@ -32477,10 +32478,10 @@ "trigonelline (N'-methylnicotinate) measurement" "obsolete_floor plate rhombomere 7" "obsolete_ethylmalonic encephalopathy" - "pharyngula prim-15" "lysosomal acid phosphatase measurement" - "serum albumin measurement" + "pharyngula prim-15" "2-hydroxybehenate measurement" + "serum albumin measurement" "caspase recruitment domain-containing protein 9" "Leber congenital amaurosis 17" "level of homeobox protein Hox-A5 in blood serum" @@ -32504,11 +32505,11 @@ "DnaJ homolog subfamily B member 4" "obsolete_autosomal dominant slowed nerve conduction velocity" "N-isovalerylglycine" - "9,10-DiHODE" "GM17185" "level of phosphoribosyltransferase domain-containing protein 1 in blood serum" "tissue alpha-L-fucosidase" "diacylglycerol kinase beta" + "9,10-DiHODE" "obsolete_familial visceral myopathy" "obsolete_epidermolytic ichthyosis" "BisChIP-Seq" @@ -32552,15 +32553,15 @@ "vesicle-associated membrane protein 1" "ptosis-syndactyly-learning difficulties syndrome" "obsolete_congenital ectropion" - "Congenital intestinal disease due to an enzymatic defect" "short-rib thoracic dysplasia 6 with or without polydactyly" + "Congenital intestinal disease due to an enzymatic defect" "level of glutaredoxin-related protein 5 in blood" "autosomal dominant keratitis-ichthyosis-hearing loss syndrome" "E3 ubiquitin-protein ligase pellino homolog 2" "GM12865" "level of protocadherin beta-15 in blood" - "gamma-aminoisobutyric acid measurement"@en "sci-RNA-seq3" + "gamma-aminoisobutyric acid measurement"@en "Ovarian Endometrioid Adenocarcinoma" "nicotinamide riboside measurement" "lateral occipital cortex volume measurement"@en @@ -32593,8 +32594,8 @@ "intellectual disability and myopathy syndrome" "protein POF1B" "Takayasu arteritis" - "ezrin measurement" "Unclassified Renal Cell Carcinoma" + "ezrin measurement" "obsolete_dorsal histoblast nest abdominal" "sphingomyelin d18:1/16:0" "glutathione peroxidase 7" @@ -32607,8 +32608,8 @@ "Hyperostosis" "sudden sensorineural hearing loss" "obsolete_Autosomal recessive non-syndromic sensorineural deafness type DFNB" - "Female infertility due to gonadal dysgenesis" "docosapentaenoate" + "Female infertility due to gonadal dysgenesis" "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" @@ -32618,21 +32619,21 @@ "neuropathy, congenital hypomelinating" "tongue neoplasm" "HG02970" - "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" "sensory system cancer" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" "obsolete_auxin" "high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a measurement" "autosomal dominant disease" "central nervous system" - "visual memory measurement" "obsolete qualitative or quantitative defects of calpain" + "visual memory measurement" "hypogonadotropic hypogonadism 1 with or without anosmia" "dyssegmental dysplasia, Rolland-Desbuquois type" "cribriform variant testicular seminoma" "severe congenital nemaline myopathy" + "asphyxia neonatorum" "pyruvate dehydrogenase E3 deficiency" "oxoglutaricaciduria" - "asphyxia neonatorum" "benign prostatic hyperplasia" "azathioprine" "carnitine palmitoyl transferase 1A deficiency" @@ -32713,22 +32714,22 @@ "granule cell layer dentate gyrus volume" "5-hydroxytryptophol measurement" "obsolete_partial duplication of the long arm of chromosome X" + "CACH syndrome" "osteocraniostenosis" "level of serine protease inhibitor Kazal-type 5 in blood" "carotenoid measurement" - "CACH syndrome" "cold-induced vasodilation"@en - "hepatitis B virus X-interacting protein" "campylobacteriosis" + "hepatitis B virus X-interacting protein" "Helicobacter pylori J99" "level of ataxin-3 in blood" "Bradyrhizobium japonicum USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" - "Pes cavus" "variegate porphyria" + "Pes cavus" "level of mitogen-activated protein kinase kinase kinase kinase 5 in blood serum" - "1-docosapentaenoyl-GPC (22:5n6) measurement" "all-cis-octadeca-6,9,12,15-tetraenoic acid" + "1-docosapentaenoyl-GPC (22:5n6) measurement" "obsolete_autosomal dominant distal myopathy" "level of kelch-like protein 12 in blood serum" "level of ADAM DEC1 in blood serum" @@ -32755,9 +32756,9 @@ "S-arrestin" "46,xx sex reversal 5" "Benign Kidney Neoplasm" + "X-linked intellectual disability, Snyder type" "eosinophilic esophagitis" "Lactobacillus helveticus" - "X-linked intellectual disability, Snyder type" "S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys" "X-12644 measurement" "[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement" @@ -32796,13 +32797,13 @@ "level of caspase recruitment domain-containing protein 19 in blood serum" "hypoaldosteronism disease" "obsolete_adult neuronal ceroid lipofuscinosis" + "obsolete_isolated glycerol kinase deficiency" + "Benign familial chorea" "level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum" "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" - "Benign familial chorea" "level of ribokinase in blood" "angiokeratoma corporis diffusum with arteriovenous fistulas" "T-box brain protein 1" - "obsolete_isolated glycerol kinase deficiency" "X-02973 measurement" "loricrin keratoderma" "pestivirus infectious disease, non-human animal" @@ -32810,10 +32811,10 @@ "59M" "pyridoxine-5'-phosphate oxidase" "skeletal system disease" + "L-Glutamic acid to 3-Indolepropionic acid ratio" "stathmin" "interferon-induced GTP-binding protein Mx1" "urinary tract infection" - "L-Glutamic acid to 3-Indolepropionic acid ratio" "hyperandrogenism" "obsolete_response to flurouracil" "phosphocreatine measurement"@en @@ -32826,8 +32827,8 @@ "obsolete_familial isolated restrictive cardiomyopathy" "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "benzbromarone" - "sphingomyelin 34:1 measurement" "obsolete_acrofacial dysostosis, Palagonia type" + "sphingomyelin 34:1 measurement" "interleukin 19 measurement" "androstenediol (3beta,17beta) monosulfate (2) measurement" "concentration unit" @@ -32837,12 +32838,12 @@ "intellectual disability, X-linked 21" "staphylococcus phage virus seropositivity" "hephaestin-like protein 1 measurement" - "vaginal adenosarcoma" "clonal hematopoiesis mutation measurement"@en + "vaginal adenosarcoma" "triacylglycerol 48:1 measurement"@en "neutral ceramidase measurement" - "LP.06 six leaves visible stage" "coronavirus infectious disease" + "LP.06 six leaves visible stage" "level of Phosphatidylcholine (O-16:1_20:4) in blood serum" "segmentation 26+ somites" "level of xyloside xylosyltransferase 1 in blood serum" @@ -32874,8 +32875,8 @@ "obsolete_dimethylglycine dehydrogenase deficiency" "semaphorin-4B" "urethra squamous cell carcinoma" - "PA-1" "stomatitis" + "PA-1" "ovarian mixed germ cell neoplasm" "1-oleoyl-GPG (18:1) measurement" "BS-Seq" @@ -32940,8 +32941,8 @@ "F9 mouse embryonal carcinoma cell line" "phosphatidylcholine acyl-alkyl C34:1 measurement" "viral hemorrhagic septicemia" - "level of gephyrin in blood serum" "obsolete_Borjeson-Forssman-Lehmann syndrome" + "level of gephyrin in blood serum" "level of TIMELESS-interacting protein in blood serum" "megaconial type congenital muscular dystrophy" "large ribosomal subunit protein P2" @@ -32973,18 +32974,18 @@ "peroxisome biogenesis disorder due to PEX7 defect" "level of fungal/metazoan cullin-1 in blood serum" "obsolete_Fowler syndrome" - "high mobility group protein 20A measurement" "standard deviation of the normal-to-normal inter beat intervals" + "high mobility group protein 20A measurement" "Papillary Craniopharyngioma" "Brachytelephalangy - dysmorphism - Kallmann syndrome" "obsolete_Bernard-Soulier syndrome" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2N" "response to xenobiotic stimulus trait" "autosomal recessive centronuclear myopathy" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2N" "obsolete_pacman dysplasia" "aflatoxin B1" - "brain dopamine-serotonin vesicular transport disease" "obsolete_familial primary hypomagnesemia with hypocalcuria" + "brain dopamine-serotonin vesicular transport disease" "obsolete_maternal uniparental disomy of chromosome 1" "Vici syndrome" "obsolete_pseudoleprechaunism syndrome, Patterson type" @@ -33044,9 +33045,9 @@ "lipoprotein-associated phospholipase A(2) measurement" "SH3 and multiple ankyrin repeat domains protein 1" "sclerostin measurement"@en + "Swiss8" "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" "tumor necrosis factor receptor superfamily member 10C" - "Swiss8" "level of catenin alpha-2 in blood serum" "ADHD symptom measurement" "obsolete_hemochromatosis type 4" @@ -33056,12 +33057,12 @@ "obsolete_cephalocele" "monensin A" "obsolete coloboma of optic disk" - "demethylphosphinothricin measurement" "Orofaciodigital syndrome type 8" + "demethylphosphinothricin measurement" + "nectin-2 measurement" "acromesomelic dysplasia 2B" "central nervous system vasculitis" "protein PALS2" - "nectin-2 measurement" "GM12239" "maple syrup urine disease type 1A" "obsolete_X-linked intellectual disability, Cilliers type" @@ -33095,9 +33096,9 @@ "autoimmune disorder of the nervous system" "Genetic disorder of sex development of gynecological interest" "peak-valley respiratory sinus arrhythmia or high frequency power" - "obsolete_generalized juvenile polyposis/juvenile polyposis coli" "Spastic paraplegia - precocious puberty" "obsolete_sciatic nerve" + "obsolete_generalized juvenile polyposis/juvenile polyposis coli" "ILSXISS14/TejJ" "DnaJ homolog subfamily B member 2" "U-343MG cell" @@ -33124,12 +33125,12 @@ "olfactory region" "sarcocystosis" "obsolete organic cyclic compound metabolic process" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "GM17124" "level of disintegrin and metalloproteinase domain-containing protein 8 in blood" "level of zinc finger protein 526 in blood serum" "signal recognition particle 14 kDa protein" "flower development stage" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "susceptibility to HIV infection" "obsolete_gray platelet syndrome" "carbon monoxide" @@ -33158,8 +33159,8 @@ "autosomal recessive spinocerebellar ataxia 18" "GM17229" "level of septin-11 in blood serum" - "level of lactase/phlorizin hydrolase in blood serum" "HG03439" + "level of lactase/phlorizin hydrolase in blood serum" "kynurenate" "benomyl" "obsolete_bladder mucosa" @@ -33206,9 +33207,9 @@ "alcohol dehydrogenase 4 measurement" "Paget disease" "anion gap measurement" - "Combined oxidative phosphorylation defect type 27" "cytochrome b-245 chaperone 1" "level of Ras-related protein Rab-39B in blood serum" + "Combined oxidative phosphorylation defect type 27" "zinc finger protein 275" "Genetic intestinal disease due to fat malabsorption" "Lactobacillus kimchii" @@ -33247,8 +33248,8 @@ "obsolete_penis" "CLN13 disease" "cerebellar hemangioblastoma" - "presumptive hypochord" "obsolete_LEOPARD syndrome" + "presumptive hypochord" "zinc finger CCCH domain-containing protein 8" "deoxycholate" "AB1" @@ -33345,9 +33346,9 @@ "obsolete_interopercle" "zygodactyly type 1" "anonychia-microcephaly syndrome" + "ML-DmD32" "univentricular cardiopathy" "GDP-fucose protein O-fucosyltransferase 1" - "ML-DmD32" "kallikrein-15" "hyaline cartilage tissue" "Qualitative or quantitative defects of sarcoglycan" @@ -33447,9 +33448,9 @@ "obsolete_Ehlers-Danlos syndrome type 11" "indoleacetate measurement" "obsolete autosomal trisomy" + "obsolete_McDonough syndrome" "Broad-based gait" "esophagogastric junction" - "obsolete_McDonough syndrome" "transmembrane protein 2 measurement" "esophageal lipoma" "Mungan syndrome" @@ -33485,16 +33486,16 @@ "1-linolenoyl-GPE (18:3) measurement" "chromosome 10 disorder" "neural proliferation differentiation and control protein 1 measurement" - "spinal cord lymphoma" "Orientia tsutsugamushi" + "spinal cord lymphoma" "neurodevelopmental disorder with or without variable movement or behavioral abnormalities" "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" "glycerophosphoserine" + "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" - "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" "9q31.1q31.3 microdeletion syndrome" "Undifferentiated Gallbladder Carcinoma" @@ -33503,11 +33504,11 @@ "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" "pregnancy-specific beta-1-glycoprotein 4" + "obsolete_hyperkeratosis lenticularis perstans" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" "Anonychia - microcephaly" "thioredoxin-like protein 4A" - "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" "Drechslera sp." "obsolete_kidney (Bos taurus)" @@ -33564,8 +33565,8 @@ "phosphoenolpyruvic acid measurement"@en "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 measurement" "nimodipine" - "Alpha-B crystallin-related late-onset distal myopathy" "obsolete blepharophimosis-radioulnar synostosis syndrome" + "Alpha-B crystallin-related late-onset distal myopathy" "level of adhesion G protein-coupled receptor B3 in blood" "epidermolysis bullosa acquisita" "butyrate (4:0) measurement" @@ -33636,8 +33637,8 @@ "probe design element" "Abdominal symptom" "GM14583" - "level of tight junction protein ZO-3 in blood" "high mobility group protein B3" + "level of tight junction protein ZO-3 in blood" "obsolete_mandibulofacial dysostosis-microcephaly syndrome" "retinal vasculitis" "obsolete_congenitally uncorrected transposition of the great arteries with cardiac malformation" @@ -33676,20 +33677,20 @@ "4-acetamidophenylglucuronide measurement" "Meleagris gallopavo" "obsolete_Salla disease" - "obsolete_mandibular lateral line neuromast" "digenic alpha thalassemia spectrum" "level of integrin beta-1 in blood serum" + "obsolete_mandibular lateral line neuromast" "hereditary site-specific ovarian cancer syndrome" "CS57827" - "WAP four-disulfide core domain protein 10A measurement" "renal connecting tubule" - "glycocholic acid measurement"@en + "WAP four-disulfide core domain protein 10A measurement" "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" "lissencephaly with cerebellar hypoplasia type A" + "glycocholic acid measurement"@en "Non-syndromic genetic deafness" "familial thoracic aortic aneurysm and aortic dissection" - "dermatologic drug" "obsolete_diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" + "dermatologic drug" "obsolete congenital abnormality" "age of onset of asthma" "gametocyte-specific factor 1" @@ -33814,8 +33815,8 @@ "arecaidine measurement" "NOD mouse" "DNA-binding protein SATB1 measurement" - "protein measurement" "tumor necrosis factor, receptor superfamily, member 5 measurement"@en + "protein measurement" "Swiss9" "skin carcinoma" "body ratio measurement" @@ -33929,8 +33930,8 @@ "level of butyrophilin-like protein 10 in blood" "aromatic-l-amino-acid decarboxylase measurement" "visfatin measurement"@en - "obsolete_hereditary angioedema" "X-10510-to-palmitoyl sphingomyelin ratio" + "obsolete_hereditary angioedema" "1-monolinolein" "level of transcription elongation factor A protein-like 1 in blood serum" "transitional stage B cell" @@ -33975,6 +33976,7 @@ "obsolete_isolated focal palmoplantar keratoderma" "obsolete_delayed membranous cranial ossification" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement" + "pelvic neoplasm"@en "enzootic pneumonia of calves" "Kin-0" "level of pleckstrin homology domain-containing family M member 2 in blood serum" @@ -33983,7 +33985,6 @@ "time to first cigarette measurement" "autosomal recessive Parkinson disease 14" "spectrophotometer" - "pelvic neoplasm"@en "collagen alpha-1(VIII) chain measurement" "brain stem hemangioblastoma" "interleukin-28B" @@ -34030,8 +34031,8 @@ "familial anetoderma" "Kallmann syndrome - heart disease" "cold urticaria" - "atrial septal defect 3" "level of platelet-derived growth factor subunit A in blood serum" + "atrial septal defect 3" "neudesin" "Elevated carcinoma antigen 125 level" "NCI-H2196" @@ -34066,14 +34067,14 @@ "Hip pain" "free brassicasterol measurement"@en "triglycerides in medium LDL measurement " - "CCAAT/enhancer-binding protein beta measurement" "obsolete_benign partial infantile seizures" + "CCAAT/enhancer-binding protein beta measurement" "level of inositol polyphosphate 5-phosphatase OCRL in blood serum" "Synechococcus phage S-IO17" "level of butyrophilin subfamily 2 member A1 in blood" "high affinity immunoglobulin gamma fc receptor i measurement" - "social interaction measurement" "calcium-activated potassium channel subunit beta-3" + "social interaction measurement" "obsolete qualitative or quantitative defects of myotubularin" "Machado-Joseph disease" "typical nemaline myopathy" @@ -34102,9 +34103,9 @@ "dabrafenib" "Xeroderma pigmentosum complementation group E" "COLO 853" - "glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic measurement" "Zea mays cv. B73" "Basal ganglia calcification" + "glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic measurement" "obsolete_response to taxane" "aggressive B-cell non-Hodgkin lymphoma" "Delayed puberty" @@ -34172,9 +34173,9 @@ "complement C1q tumor necrosis factor-related protein 4" "level of BAG family molecular chaperone regulator 3 in blood" "Rothmund-Thomson syndrome" - "enclosing embryo Ce" "Hypernatremia" "GTPase IMAP family member 7" + "enclosing embryo Ce" "treacle protein" "level of mitogen-activated protein kinase 10 in blood serum" "armadillo repeat-containing X-linked protein 2" @@ -34192,11 +34193,11 @@ "Rh-4"@en "cerebrooculonasal syndrome" "transmembrane protein 230 measurement" - "coiled-coil domain-containing protein 126 measurement" "NCI-H1155" "brachydactyly type B2" - "envoplakin measurement" + "coiled-coil domain-containing protein 126 measurement" "BEN" + "envoplakin measurement" "level of CD3 delta in blood" "Bcl-2-modifying factor" "hippocampal volume" @@ -34211,8 +34212,8 @@ "lens of camera-type eye" "Abelson tyrosine-protein kinase 2 measurement" "Rare hemorrhagic disorder due to a constitutional coagulation factors defect" - "fetal akinesia-cerebral and retinal hemorrhage syndrome" "pediatric arterial ischemic stroke" + "fetal akinesia-cerebral and retinal hemorrhage syndrome" "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" "maternal uniparental disomy of chromosome 16" "endocrine system disease" @@ -34244,9 +34245,9 @@ "pharyngeal arch artery 5" "neurogenic bowel" "cytoplasmic tyrosine-protein kinase BMX measurement" + "Muscle fiber actin filament accumulation" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "wet beriberi" - "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" "chromosome 16p13.3 duplication syndrome" "riddelliine" @@ -34286,10 +34287,10 @@ "level of Phosphatidylcholine (O-18:0_14:0) in blood serum" "anti-muellerian hormone type-2 receptor measurement" "KMC-1" + "cellular tumor antigen p53 measurement" "cot filtration" "glutamine" "tyrosine-protein kinase Mer" - "cellular tumor antigen p53 measurement" "response to high sodium diet" "Roifman syndrome" "level of ubiquitin-associated and SH3 domain-containing protein B in blood serum" @@ -34457,8 +34458,8 @@ "DnaJ homolog subfamily A member 2" "vitamin K-dependent clotting factors, combined deficiency of, type 2" "glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement" - "obsolete_fetus" "coxsackievirus infectious disease" + "obsolete_fetus" "level of coiled-coil domain-containing protein 140 in blood serum" "prolactin-releasing peptide" "positive regulation of inflammatory response" @@ -34472,13 +34473,13 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" + "response to smoking cessation agent" + "Microcystic Renal Disease" "xylosyl- and glucuronyltransferase LARGE1" "HCC0630" "dendritic cell" "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" - "response to smoking cessation agent" - "Microcystic Renal Disease" "Geobacter sulfurreducens" "sulfotransferase 1C2" "phosphoenolpyruvate carboxykinase deficiency, cytosolic" @@ -34501,8 +34502,8 @@ "stromal membrane-associated protein 1 measurement" "Genetic cranial malformation" "RalBP1-associated Eps domain-containing protein 1" - "obsolete_entorhinal cortex" "X-linked creatine transporter deficiency" + "obsolete_entorhinal cortex" "RUN and FYVE domain-containing protein 1 measurement" "SH3 and multiple ankyrin repeat domains protein 3" "Retinal pigment epithelial atrophy" @@ -34546,8 +34547,8 @@ "aspartic acid measurement" "level of alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in blood serum" "oculogyric crisis" - "tyrosine-protein kinase receptor UFO" "keratosis follicularis spinulosa decalvans" + "tyrosine-protein kinase receptor UFO" "DNA-binding protein SATB2 measurement" "sodium-coupled monocarboxylate transporter 1" "obsolete inflammatory and toxic neuropathy" @@ -34569,8 +34570,8 @@ "Uterine Corpus Lipoleiomyoma" "level of fibromodulin in blood serum" "obsolete_Duchenne muscular dystrophy" - "phosphatidylcholine acyl-alkyl C38:6 measurement" "level of E3 ubiquitin-protein ligase LRSAM1 in blood serum" + "phosphatidylcholine acyl-alkyl C38:6 measurement" "level of eIF5-mimic protein 1 in blood serum" "scirrhous adenocarcinoma" "obsolete organic cyclic compound biosynthetic process" @@ -34645,8 +34646,8 @@ "B-cell receptor-associated protein 29" "palmitate 16:0 measurement" "Nuc-Seq" - "defect in V-ATPase" "Tax1-binding protein 1" + "defect in V-ATPase" "trimeric intracellular cation channel type B" "3q26 microduplication syndrome" "colonic cancer cell line" @@ -34672,8 +34673,8 @@ "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" "root structure" "premature ovarian failure 20" - "obsolete lethal restrictive dermopathy" "atorvastatin measurement" + "obsolete lethal restrictive dermopathy" "formiminoglutamate measurement" "thyroid stimulating hormone measurement" "obsolete autosomal recessive optic atrophy" @@ -34736,9 +34737,9 @@ "lysosome-associated membrane glycoprotein 3 measurement" "alpha-N-acetylglucosaminidase activity" "Placental Hemangioma" + "Borderline Exocrine Pancreatic Neoplasm" "autosomal dominant sensory ataxia 1" "BV173" - "Borderline Exocrine Pancreatic Neoplasm" "erythrocyte differentiation" "fallopian tube leiomyosarcoma" "viral infection of central nervous system" @@ -34792,8 +34793,8 @@ "rheumatoid arthritis" "phosphoribosylpyrophosphate synthetase superactivity" "molar" - "IFIH1-related type 1 interferonopathy" "flatfoot" + "IFIH1-related type 1 interferonopathy" "acquired von willebrand syndrome" "obsolete_COG1-CDG" "sex ratio" @@ -34833,26 +34834,26 @@ "salivary gland disease" "diffuse large B-cell lymphoma of the central nervous system" "Oguchi disease" - "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4" "merkel cell" + "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4" "level of MAP/microtubule affinity-regulating kinase 3 in blood serum" "mucoepidermoid carcinoma" "protein disulfide-isomerase measurement" "supraglottis cancer" "complement C4-A" - "lysozyme-like protein 2 measurement" "glaucoma-sleep apnea syndrome" "sinus histiocytosis with massive lymphadenopathy" "Fulminant hepatitis" + "lysozyme-like protein 2 measurement" "Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency" "Growth delay - hydrocephaly - lung hypoplasia" "epilepsy, juvenile absence, susceptibility to" "Headache" "level of synaptotagmin-2 in blood serum" "protein p13 MTCP-1 measurement" - "serum immunoglobulin measurement" "Wide mouth" "level of Isoleucyl-Threonine in blood" + "serum immunoglobulin measurement" "myofibrillar myopathy 6" "thermal cycler" "Heterochromia iridis" @@ -34860,8 +34861,8 @@ "X-24949 measurement" "GM17222" "obsolete_insulin-resistance syndrome type A" - "lobe attachment" "level of interleukin-6 receptor subunit beta in blood serum" + "lobe attachment" "obsolete partial autosomal trisomy/tetrasomy" "obsolete_CNS brain hippocampus MMHCC" "GM17746" @@ -35036,8 +35037,8 @@ "olfactomedin-like protein 3" "interferon-induced protein with tetratricopeptide repeats 1" "tryptophan betaine measurement" - "TYS"@en "4-guanidinobutanoate" + "TYS"@en "obsolete_sub-cortical nodular heterotopia" "familial adenomatous polyposis 4" "V(D)J recombination-activating protein 1" @@ -35071,9 +35072,9 @@ "consultant" "SCP2 sterol-binding domain-containing protein 1" "obsolete_Berardinelli-Seip congenital lipodystrophy" - "NHP2-like protein 1 measurement" "level of integrin beta-3 in blood serum" "dystonia 25" + "NHP2-like protein 1 measurement" "CS57834" "amyloid beta A4 precursor protein-binding family B member 1-interacting protein" "Populus nigra" @@ -35158,8 +35159,8 @@ "venom gland" "obsolete_hair follicle" "Xeroderma pigmentosum variant" - "alpha-S1-casein measurement" "pneumonia" + "alpha-S1-casein measurement" "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "binding site identification design" "pimelic acid measurement"@en @@ -35203,8 +35204,8 @@ "lethal congenital glycogen storage disease of heart" "cyclic AMP-dependent transcription factor ATF-5" "invasive tubular breast carcinoma" - "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" "obsolete_neuronal intranuclear inclusion disease" + "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" "classic organic aciduria" "aortic measurement"@en "central bilateral macrogyria" @@ -35244,14 +35245,14 @@ "neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures" "renal beta-intercalated cell" "Reis-Bücklers corneal dystrophy" - "obsolete_trisomy 1q" "level of adhesion G-protein coupled receptor G1 in blood serum" - "oleate 18:1n9 measurement" + "obsolete_trisomy 1q" "obsolete_anterior lateral line nerve" "interferon regulatory factor 5" "lethal acantholytic epidermolysis bullosa" "Ras-related protein Rab-38" "neurectoderm" + "oleate 18:1n9 measurement" "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome" "Masticophis" "tomatine" @@ -35266,8 +35267,8 @@ "triacylglycerol 50:0 measurement" "obsolete_neural keel" "Reduced social responsiveness" - "obsolete_partial duplication of the short arm of chromosome 11" "prostate lymphoma" + "obsolete_partial duplication of the short arm of chromosome 11" "WAP four-disulfide core domain protein 13 measurement" "clathrin heavy chain 1" "Staphylococcus aureus subsp. aureus MRSA252" @@ -35311,8 +35312,8 @@ "level of probable RNA-binding protein 18 in blood serum" "symphytine oxide" "Microcephaly - brain defect - spasticity - hypernatremia" - "carcinoma of pharynx" "obsolete_macrocephaly-developmental delay syndrome" + "carcinoma of pharynx" "obsolete_blepharonasofacial malformation syndrome" "adenosylhomocysteinase" "adverse effect" @@ -35341,11 +35342,11 @@ "autoimmune disorder of gastrointestinal tract" "data analyst" "Schwartz-Jampel syndrome" - "Arrhinia - choanal atresia - microphthalmia" "ribulose 5-phosphate" - "dicofol measurement"@en + "Arrhinia - choanal atresia - microphthalmia" "Stable-Seq" "ectodermal dysplasia-cutaneous syndactyly syndrome" + "dicofol measurement"@en "lysophosphatidylcholine 16:1" "cantharidin" "pre-B-cell leukemia transcription factor-interacting protein 1" @@ -35432,8 +35433,8 @@ "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" "obsolete_fatal familial insomnia" - "obsolete_utering smooth muscle cell" "polypeptide N-acetylgalactosaminyltransferase 4" + "obsolete_utering smooth muscle cell" "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" "pyridoxamine measurement"@en @@ -35480,8 +35481,8 @@ "fC-Seal" "obsolete_disorder of glyoxylate metabolism" "Plantar Fibromatosis" - "polycystic kidney disease 6 with or without polycystic liver disease" "level of voltage-dependent calcium channel subunit alpha-2/delta-3 in blood serum" + "polycystic kidney disease 6 with or without polycystic liver disease" "obsolete_blood" "optic nerve astrocytoma" "2-oxindole-3-acetate measurement" @@ -35600,8 +35601,8 @@ "hydroxysphingomyeline C22:2 measurement" "Fusarium cerealis" "hypertrichosis-acromegaloid facial appearance syndrome" - "Juvenile Polyp" "level of general transcription factor II-I in blood serum" + "Juvenile Polyp" "Lower limb amyotrophy" "quinolinic acid" "3MC syndrome 1" @@ -35699,8 +35700,8 @@ "level of frataxin, mitochondrial in blood serum" "killer cell immunoglobulin-like receptor 2DL5A" "dihydrobiopterin measurement"@en - "radial nerve" "obsolete_FRAXF syndrome" + "radial nerve" "LCAT deficiency" "Mus musculus castaneus" "concentration of small VLDL particles" @@ -35781,8 +35782,8 @@ "Rare genetic tumor" "syringoma" "familial multiple nevi flammei" - "curator" "heat shock 70 kDa protein 1-like measurement" + "curator" "hypomandibular faciocranial dysostosis" "level of tumor necrosis factor receptor superfamily member 3 in blood serum" "Rhagoletis pomonella" @@ -35807,10 +35808,10 @@ "chorion membrane" "Buchnera aphidicola (Schizaphis graminum)" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" - "level of REST corepressor 1 in blood" "level of ubiquitin carboxyl-terminal hydrolase 30 in blood serum" "hemolytic anemia due to glucophosphate isomerase deficiency" "Agrobacterium" + "level of REST corepressor 1 in blood" "obsolete_Hermansky-Pudlak syndrome" "obsolete_embryonic epipharynx" "Cold-induced sweating syndrome 1" @@ -35857,8 +35858,8 @@ "palmoplantar keratoderma-esophageal carcinoma syndrome" "alphapapillomavirus 9 virus seropositivity" "cryptococcal meningitis" - "Canton-S" "JHH-2" + "Canton-S" "tryptase delta" "level of tRNA 2'-phosphotransferase 1 in blood serum" "spinocerebellar ataxia type 10" @@ -35907,10 +35908,10 @@ "Rh isoimmunization" "Karsch-Neugebauer syndrome" "carcinoma of liver and intrahepatic biliary tract" + "susceptibility to hepatitis A infection measurement" "blastocyst" "phosphoethanolamine/phosphocholine phosphatase" "dilated cardiomyopathy 1A" - "susceptibility to hepatitis A infection measurement" "GA-binding protein subunit beta-1" "level of runt-related transcription factor 3 in blood serum" "level of transmembrane protein 190 in blood serum" @@ -35998,10 +35999,10 @@ "caudate nucleus volume" "guanylyl cyclase-activating protein 2" "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" + "level of beta-defensin 110 in blood serum" "level of retinoblastoma-like protein 1 in blood serum" "juvenile absence epilepsy" "chorionic villus" - "level of beta-defensin 110 in blood serum" "obsolete_EAST syndrome" "neutral lipid storage myopathy" "level of disintegrin and metalloproteinase domain-containing protein 15 in blood" @@ -36068,11 +36069,11 @@ "piwi-like protein 1 measurement" "hereditary spastic paraplegia 73" "lysophosphatidylcholine 18:0" + "complement factor H-related proteins measurement" "LDL peak particle diameter measurement" "HCC1162" "Vissers-Bodmer syndrome" "dihydropyrimidinase" - "complement factor H-related proteins measurement" "dysthymic disorder" "level of gamma-glutamylcyclotransferase in blood" "sulfotransferase 2B1" @@ -36145,8 +36146,8 @@ "leaf tip" "Cervus nippon" "obsolete_autosomal recessive cutis laxa type 2B" - "melanoacanthoma" "Nectria rigidiuscula" + "melanoacanthoma" "lysophosphatidylcholine 22:0 measurement" "valine metabolism disease" "MALT lymphoma" @@ -36288,9 +36289,9 @@ "antiemetic effect" "anatomical structure" "adult astrocytic tumor" - "obsolete_mild phenylketonuria" "polypeptide N-acetylgalactosaminyltransferase 5" "obsolete_rapidly progressive glomerulonephritis" + "obsolete_mild phenylketonuria" "level of trinucleotide repeat-containing gene 6B protein in blood serum" "level of SLIT and NTRK-like protein 2 in blood serum" "embryonic lethality" @@ -36323,8 +36324,8 @@ "obsolete_telecanthus" "early pro-B cell" "Systemic lupus erythematosus" - "obsolete_pleomorphic breast carcinoma" "PIK3CA/PIK3R1 measurement" + "obsolete_pleomorphic breast carcinoma" "Borderline Ovarian Brenner Tumor" "developmental and epileptic encephalopathy, 66" "tacrine" @@ -36355,9 +36356,9 @@ "type I NK T cell" "leptin receptor measurement" "lung adenoma" - "mosquito bite reaction itch intensity measurement" "obsolete_superior colliculus" "Zalophus californianus" + "mosquito bite reaction itch intensity measurement" "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) measurement" "suberic acid measurement"@en "hematopoietically-expressed homeobox protein HHEX" @@ -36388,8 +36389,8 @@ "Alphavirus infectious disease" "M14" "obsolete qualitative or quantitative defects of fukutin" - "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "ergothioneine" + "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "coisogenic strain" "floral organ formation stage" "NHP2-like protein 1" @@ -36463,8 +36464,8 @@ "level of carboxypeptidase A2 in blood serum" "dual specificity protein phosphatase 16 measurement" "acquired adult-onset immunodeficiency" - "Adrenocorticotropic hormone deficiency" "hepatocyte" + "Adrenocorticotropic hormone deficiency" "alcohol dehydrogenase [NADP+] measurement" "phosphatidylcholine acyl-alkyl C38:4 measurement" "N-acetyl-3-methylhistidine measurement" @@ -36496,8 +36497,8 @@ "gastric inhibitory polypeptide" "Athabaskan brainstem dysgenesis syndrome" "level of small nuclear ribonucleoprotein G in blood serum" - "level of KxDL motif-containing protein 1 in blood serum" "amygdala volume change measurement"@en + "level of KxDL motif-containing protein 1 in blood serum" "coloboma, ocular, autosomal dominant" "colipase measurement" "epididymal secretory protein E3-beta measurement" @@ -36555,8 +36556,8 @@ "Rare disease with thoracic aortic aneurysm and aortic dissection" "Sarcomatoid Mesothelioma" "obsolete_middle temporal gyrus" - "purine measurement"@en "cellular modification design" + "purine measurement"@en "AMSH-like protease measurement" "Loeys-Dietz syndrome" "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" @@ -36576,8 +36577,8 @@ "intellectual disability, autosomal dominant 53" "susceptibility to rheumatic fever measurement" "postinfectious vasculitis" - "transmembrane protein 8B" "Craniodigital syndrome - intellectual disability" + "transmembrane protein 8B" "organelle organization" "level of transmembrane protein 52 in blood serum" "obsolete_polyglucosan body myopathy" @@ -36645,9 +36646,9 @@ "lysophosphatidylethanolamine 22:6" "congenital muscular dystrophy" "hippuric acid measurement"@en - "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma" "WT limb-blood syndrome" + "obsolete_mesial temporal lobe epilepsy with hippocampal sclerosis" "hemangiomas of small intestine" "insulinoma" "suppressor of cytokine signaling 7 measurement" @@ -36680,8 +36681,8 @@ "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" "HUES3" "obsolete_cold-induced sweating syndrome" - "keratinocyte differentiation factor 1" "ceroid lipofuscinosis, neuronal, 6A" + "keratinocyte differentiation factor 1" "Lethal congenital contracture syndrome type 2" "smoking cessation" "level of protein Wnt-9a in blood" @@ -36764,10 +36765,10 @@ "Carey-Fineman-Ziter syndrome" "potassium bromate" "Myelofibrosis" - "arthrogryposis, distal, type 2B3" "obsolete_renal tubular dysgenesis of genetic origin" - "alive with disease" + "arthrogryposis, distal, type 2B3" "plastin-1 measurement" + "alive with disease" "size fractionation" "level of myeloid-derived growth factor in blood serum" "Hsp70-binding protein 1" @@ -36777,8 +36778,8 @@ "HCC1263" "pectoral fin skeleton" "myopathy, epilepsy, and progressive cerebral atrophy" - "vitreous body disease" "carotid artery disease" + "vitreous body disease" "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" "sulfotransferase 4A1" "2',3'-cyclic-nucleotide 3'-phosphodiesterase" @@ -36832,8 +36833,8 @@ "blood 2,3-dihydroxy-2-methylbutyrate measurement" "monocyte count" "corneal dystrophy" - "Vaginal Adenoid Cystic Carcinoma" "van Maldergem syndrome" + "Vaginal Adenoid Cystic Carcinoma" "Se-0" "scavenger receptor class A member 5" "protein EOLA1 (human)" @@ -36877,8 +36878,8 @@ "gut-associated lymphoid tissue macrophage" "endrin measurement"@en "level of mucin-like protein 3 in blood" - "stabilin-2 measurement" "obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency" + "stabilin-2 measurement" "level of bone morphogenetic protein 5 in blood serum" "retinoblastoma-like protein 2" "orofaciodigital syndrome III" @@ -36940,10 +36941,10 @@ "SNU-719" "beta-defensin 103 measurement" "telencephalon neural crest" - "esophageal varices" - "phospholipase B-like 1" "obsolete_anal fin" + "phospholipase B-like 1" "endoplasmic reticulum aminopeptidase 2" + "esophageal varices" "trait in response to thiazide" "obsolete_obesity due to SIM1 deficiency" "butyrobetaine measurement" @@ -36995,8 +36996,8 @@ "fraction B precursor B cell" "RAC-alpha/beta/gamma serine/threonine-protein kinase measurement" "Borderline Ovarian Clear Cell Tumor" - "sexual arousal" "level of nuclear cap-binding protein subunit 2 in blood serum" + "sexual arousal" "distal arthrogryposis" "level of GTP-binding protein 10 in blood serum" "ALG1-congenital disorder of glycosylation" @@ -37063,8 +37064,8 @@ "transferrin receptor protein 2" "Weill-Marchesani syndrome" "Decreased circulating vitamin B12 concentration" - "alveolar soft part sarcoma" "coiled-coil domain-containing protein 89" + "alveolar soft part sarcoma" "retinitis pigmentosa 88" "narcolepsy-cataplexy syndrome" "trigeminal autonomic cephalalgia" @@ -37123,8 +37124,8 @@ "encephalopathy due to sulfite oxidase deficiency" "Caroli Disease" "triglycerides in IDL measurement" - "His-Ala" "granulosa cell tumor" + "His-Ala" "HCC2688" "level of leukocyte-associated immunoglobulin-like receptor 1 in blood serum" "phosphatidylcholine 36:2 measurement"@en @@ -37140,9 +37141,9 @@ "gamma-glutamylglutamate measurement" "Non-familial restrictive cardiomyopathy" "phosphatidylcholine acyl-alkyl C38:5 measurement" + "N-acetyl-cadaverine measurement" "bile acid measurement" "ornithine decarboxylase" - "N-acetyl-cadaverine measurement" "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment" "SW780" "level of gremlin-2 in blood serum" @@ -37158,13 +37159,13 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" + "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" - "X-24972 measurement" "Personality disorder" - "cytochrome c oxidase subunit 5B, mitochondrial" "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" + "cytochrome c oxidase subunit 5B, mitochondrial" "heritable pulmonary arterial hypertension" "oligodendroglioma" "GM17224" @@ -37239,8 +37240,8 @@ "cervical carcinoma cell line" "autosomal recessive myogenic arthrogryposis multiplex congenita" "1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement" - "B-lymphoblastic leukemia/lymphoma with hypodiploidy" "obsolete_mediastinum" + "B-lymphoblastic leukemia/lymphoma with hypodiploidy" "chemical treatment" "Peters plus syndrome" "X-linked intellectual disability - macrocephaly - macroorchidism" @@ -37315,11 +37316,11 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" + "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_TARP syndrome" - "obsolete_Inositol measurement" "obsolete_nonepidermolytic palmoplantar keratoderma" + "obsolete_Inositol measurement" "disorder of folate metabolism and transport" "Nephrogenic rest" "pulmonary fibrosis and/or bone marrow failure, telomere-related" @@ -37332,14 +37333,14 @@ "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" "OCI-AML2" "obsolete_spondyloepimetaphyseal dysplasia, Irapa type" - "treatment" "X-linked thrombocytopenia with normal platelets" + "treatment" "femtoliter" "paranasal sinus disease" "level of interferon regulatory factor 4 in blood serum" - "polysaccharide" "Populus trichocarpa" "N(omega),N(omega)-dimethyl-L-arginine" + "polysaccharide" "brooding stress response" "obsolete_microcephalic primordial dwarfism" "hyomandibula" @@ -37518,13 +37519,13 @@ "level of zinc finger and BTB domain-containing protein 17 in blood" "mucosa-associated lymphoid tissue macrophage" "obsolete_acheiria, bilateral" - "hyperphalangy, unilateral" "obsolete_mitochondrial protein import disorder" + "hyperphalangy, unilateral" "synaptotagmin-6" "tetrasomy" "catalase measurement" - "primary tethered cord syndrome" "obsolete_autosomal recessive omodysplasia" + "primary tethered cord syndrome" "West Nile virus, susceptibility to" "Vitis rotundifolia" "disorder of uterine broad ligament" @@ -37550,10 +37551,10 @@ "brush cell" "cholesterol to total lipids in small VLDL percentage " "obsolete_lattice corneal dystrophy type I" - "obsolete_odontohypophosphatasia" "metenamine measurement" "level of resistin-like beta in blood serum" "dietary niacin intake measurement" + "obsolete_odontohypophosphatasia" "Keratosis follicularis - dwarfism - cerebral atrophy" "neuronopathy, distal hereditary motor, type 5B" "silver-russell syndrome 4" @@ -37601,17 +37602,17 @@ "lymphoblastic lymphoma" "Arterivirus infectious disease" "obsolete_tibio-fibular synostosis" - "bladder calculus" "language measurement" - "inositol monophosphatase 3 measurement" "microglial cell" - "MM200" "Schimke immuno-osseous dysplasia" + "MM200" "EpiRADSeq" "level of histone-lysine N-methyltransferase EZH2 in blood serum" - "blood tin measurement"@en + "bladder calculus" + "inositol monophosphatase 3 measurement" "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" + "blood tin measurement"@en "obsolete hyperlipoproteinemia type IV" "obsolete_bone MMHCC" "forelimb" @@ -37675,8 +37676,8 @@ "SNU-C1" "beta-defensin 106 measurement" "Pseudomonas putida" - "egg cell" "response to diet"@en + "egg cell" "mosaic trisomy 18" "receptor-transporting protein 4" "obsolete_non neural ectoderm" @@ -37744,8 +37745,8 @@ "obsolete_microtriplication 11q24.1" "late pro-B cell" "MAGUK p55 subfamily member 7 measurement" - "obsolete_lethal chondrodysplasia, Moerman type" "beta-galactosidase activity" + "obsolete_lethal chondrodysplasia, Moerman type" "paranasal sinus mucoepidermoid carcinoma" "interleukin-17B measurement" "Borderline Ovarian Endometrioid Tumor" @@ -37884,12 +37885,12 @@ "level of synaptotagmin-7 in blood serum" "level of Ser-Leu in blood" "ubiquitin carboxyl-terminal hydrolase 1" - "X-24980 measurement" "obsolete_familial infantile gigantism" + "X-24980 measurement" "Borderline personality disorder" "Haemophilus ducreyi 35000HP" - "level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum" "obsolete_spondyloepimetaphyseal dysplasia with multiple dislocations" + "level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum" "obsolete uniparental disomy of maternal origin" "obsolete overgrowth/obesity syndrome" "Duvenhage virus" @@ -37930,8 +37931,8 @@ "Thy-1 membrane glycoprotein" "parietal foramina 1" "15q overgrowth syndrome" - "level of developmentally-regulated GTP-binding protein 1 in blood" "obsolete fetal anticonvulsant syndrome" + "level of developmentally-regulated GTP-binding protein 1 in blood" "hippocampus volume change measurement"@en "ES1 protein homolog, mitochondrial measurement" "fraction B/C precursor B cell" @@ -37998,10 +37999,10 @@ "obsolete_oculocutaneous albinism type 3" "Charcot-Marie-Tooth disease type 2A2" "pneumoviridae seropositivity" - "gender identity disorder" "colorectal adenoma" "anal canal" "spondylocarpotarsal synostosis syndrome" + "gender identity disorder" "coronary atherosclerosis" "blastema" "Truncus arteriosus" @@ -38026,8 +38027,8 @@ "obsolete_NCIH460" "acyl-protein thioesterase 2" "consomic strain" - "leukodystrophy, hypomyelinating, 15" "obsolete_presumptive rhombomere 6" + "leukodystrophy, hypomyelinating, 15" "level of pterin-4-alpha-carbinolamine dehydratase in blood serum" "Drosophila sechellia" "pectoral muscle" @@ -38075,8 +38076,8 @@ "atom" "level of interferon-inducible double-stranded RNA-dependent protein kinase activator A in blood serum" "Pancreatic hypoplasia - diabetes - congenital heart disease" - "nuclear RNA" "C-X-C motif chemokine 13 measurement" + "nuclear RNA" "transcription initiation factor IIE subunit beta" "cancer, non-human animal" "obsolete_Okihiro syndrome due to 20q13 microdeletion" @@ -38207,9 +38208,9 @@ "infiltrating renal pelvis transitional cell carcinoma" "level of 39S ribosomal protein L34, mitochondrial in blood serum" "heparan sulfate 2-O-sulfotransferase 1" - "H-4-II-E" "CD141-positive myeloid dendritic cell" "melanoma associated retinopathy" + "H-4-II-E" "obsolete_wing" "leukoencephalopathy, progressive, infantile-onset, with or without deafness" "level of triacylglycerol (56:6) in blood serum" @@ -38259,9 +38260,9 @@ "enrichment of methylated DNA" "mitotic spindle assembly checkpoint protein MAD1" "obsolete_familial clubfoot due to 17q23.1q23.2 microduplication" - "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" "Brown-Sequard Syndrome" "HCC1482" + "obsolete_X-linked mendelian susceptibility to mycobacterial diseases" "vitreous hemorrhage" "tubulointerstitial kidney disease, autosomal dominant, 2" "craniolenticulosutural dysplasia" @@ -38374,9 +38375,9 @@ "neutrophil count" "scrotum squamous cell carcinoma" "epidermolysis bullosa simplex 1B, generalized intermediate" - "obsolete_maternal uniparental disomy of chromosome 4" "obsolete_polydactyly" "protein GPR107 measurement" + "obsolete_maternal uniparental disomy of chromosome 4" "isolated scaphocephaly" "level of spondin-2 in blood serum" "natural cytotoxicity triggering receptor 2 measurement" @@ -38389,8 +38390,8 @@ "adult spinal cord glioblastoma" "level of coagulation factor XI in blood serum" "U6 snRNA-associated Sm-like protein LSm1" - "level of ribosome biogenesis protein SPATA5 in blood serum" "ovarian clear cell adenocarcinoma" + "level of ribosome biogenesis protein SPATA5 in blood serum" "blood strontium measurement"@en "hyperlipoproteinemia type V" "hindlimb" @@ -38475,8 +38476,8 @@ "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome" "mongolian spot" "fibroblast growth factor-binding protein 2" - "argininate measurement" "Keratoderma hereditarium mutilans with ichthyosis" + "argininate measurement" "2-acetamidophenol sulfate measurement" "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) measurement" "MDAMB435" @@ -38673,8 +38674,8 @@ "GM02767" "skin hemangioma" "obsolete_Angelman syndrome" - "obsolete uniparental disomy of paternal origin" "gastric lymphoma" + "obsolete uniparental disomy of paternal origin" "glucose import in response to insulin stimulus" "UPF0729 protein C18orf32 measurement" "muscular dystrophy-dystroglycanopathy, type B" @@ -38793,8 +38794,8 @@ "phosphatidylcholine O-42:0" "inorganic ion measurement"@en "obsolete_isolated delta-storage pool disease" - "gamma-glutamylalanine measurement" "obsolete_partial deletion of chromosome 11" + "gamma-glutamylalanine measurement" "chronic diarrhea with villous atrophy" "Trichodysplasia - xeroderma" "level of FYVE, RhoGEF and PH domain-containing protein 3 in blood" @@ -38831,8 +38832,8 @@ "uridine-cytidine kinase 2 measurement" "spastic paraplegia 85, autosomal recessive" "cGMP-specific 3',5'-cyclic phosphodiesterase measurement" - "level of protein sprouty homolog 2 in blood" "obsolete_split hand" + "level of protein sprouty homolog 2 in blood" "Hypertrichotic osteochondrodysplasia, Cantu type" "CWF19-like protein 1" "cervical intraepithelial neoplasia" @@ -38840,8 +38841,8 @@ "palmoplantar keratosis" "obsolete_X-linked centronuclear myopathy" "childhood brain stem glioma" - "level of ganglioside GM2 activator in blood serum" "syndromic X-linked intellectual disability Nascimento type" + "level of ganglioside GM2 activator in blood serum" "obsolete_20q13.33 microdeletion syndrome" "dyslexia-associated protein KIAA0319 measurement" "gamma-glutamylisoleucine measurement" @@ -38876,10 +38877,10 @@ "level of tubulin polyglutamylase complex subunit 2 in blood serum" "nucleus accumbens volume change measurement"@en "inhibin beta A chain:inhibin beta B chain heterodimer measurement" - "obsolete_Crigler-Najjar syndrome" "glioma susceptibility" "adductor mandibulae" "mitochondrial complex 1 deficiency, nuclear type 36" + "obsolete_Crigler-Najjar syndrome" "age at initiation of treatment"@en "radial hemimelia, unilateral" "obsolete_lung (Bos taurus)" @@ -38892,9 +38893,9 @@ "Miyoshi muscular dystrophy 3" "poly(U)-binding-splicing factor PUF60" "Colorectal Diffuse Large B-Cell Lymphoma" - "teratogenicity" "UACC-62" "vulvar squamous neoplasm" + "teratogenicity" "mesomelic dwarfism, Nievergelt type" "calvarial doughnut lesions-bone fragility syndrome" "obsolete_patella aplasia/hypoplasia, unilateral" @@ -38942,10 +38943,10 @@ "Gr1-high classical monocyte" "level of carboxypeptidase Q in blood" "Kit-positive, Sca1-positive common lymphoid progenitor" + "aldehyde dehydrogenase, dimeric NADP-preferring measurement" "OTU domain-containing protein 3" "level of annexin A13 in blood serum" "GM2 gangliosidosis" - "aldehyde dehydrogenase, dimeric NADP-preferring measurement" "apolipoprotein C measurement"@en "periosteum" "acute synovitis" @@ -39017,8 +39018,8 @@ "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" "Inherited congenital spastic tetraplegia" - "childhood adrenal gland pheochromocytoma" "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" + "childhood adrenal gland pheochromocytoma" "administrator" "fetal and adult testis-expressed transcript protein" "corticotropin" @@ -39029,15 +39030,15 @@ "Cataract - deafness - hypogonadism" "cardiomyopathy, familial hypertrophic, 28" "sleep duration" + "obsolete_patella aplasia/hypoplasia" "level of nuclear factor of activated T-cells 5 in blood" "intervertebral disk" - "obsolete_patella aplasia/hypoplasia" "susceptibility to chronic sinus infection measurement" "level of 5'(3')-deoxyribonucleotidase, mitochondrial in blood serum" "Trichodermodysplasia - dental alterations" + "tethered spinal cord syndrome" "Ras-related protein Rab-3C" "obsolete_whole organism" - "tethered spinal cord syndrome" "amenorrhea"@en "3-methyladipic acid" "glutathione s-transferase a3 measurement" @@ -39133,8 +39134,8 @@ "level of 39S ribosomal protein L38, mitochondrial in blood serum" "striatal degeneration, autosomal dominant" "vaginal adenoma" - "Fluidigm C1-based dissociation" "hybrid selection of targets" + "Fluidigm C1-based dissociation" "YCC1" "white matter growth measurement" "HG02840" @@ -39276,8 +39277,8 @@ "chemokine-like protein TAFA-3" "obsolete_autosomal dominant rhegmatogenous retinal detachment" "homer protein homolog 3" - "obsolete_autosomal recessive spastic paraplegia type 70" "micropapillary urothelial carcinoma" + "obsolete_autosomal recessive spastic paraplegia type 70" "heptachlor epoxide measurement"@en "level of protein deltex-2 in blood" "dual specificity protein phosphatase 18" @@ -39300,9 +39301,9 @@ "level of E3 ubiquitin-protein ligase pellino homolog 1 in blood serum" "obsolete_Genetic dermis disorder" "X-21736 measurement" - "negative regulation of renal sodium excretion" "large ribosomal subunit protein bL34m" "Coffin-Siris syndrome 12" + "negative regulation of renal sodium excretion" "seasonal gut microbiome measurement" "obsolete_Diamond-Blackfan anemia" "intellectual developmental disorder, autosomal recessive 74" @@ -39314,9 +39315,9 @@ "X-24803 measurement" "teneurin-4 measurement" "post-transplant lymphoproliferative disease" - "obsolete_mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "G&T-Seq" "level of coagulation factor XIII A chain in blood serum" + "obsolete_mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "larynx squamous papilloma" "visual system" "leukoencephalopathy, diffuse hereditary, with spheroids 1" @@ -39364,19 +39365,19 @@ "growth-regulated alpha protein measurement" "NMDA glutamate receptor activity" "lethal arteriopathy syndrome due to fibulin-4 deficiency" - "sleep latency" "nodular fasciitis" + "sleep latency" "chemical entity" "osteomalacia" "Rectal prolapse" "ciliary dyskinesia, primary, 48, without situs inversus" "isovalerate (i5:0) measurement" - "Staphylococcus aureus subsp. aureus str. Newman" "Cryptococcus neoformans var. neoformans" "intestinal tuberculosis" "craniocervical region" "follitropin subunit beta" "patella aplasia/hypoplasia" + "Staphylococcus aureus subsp. aureus str. Newman" "bone leiomyosarcoma" "male reproductive system measurement"@en "obsolete_cranial neural crest" @@ -39419,8 +39420,8 @@ "myofibrillar myopathy 5" "Fibrolamellar Carcinoma" "obsolete midline interhemispheric variant of holoprosencephaly" - "disorder of pilosebaceous unit" "umbelliferone sulfate measurement" + "disorder of pilosebaceous unit" "1-methylnicotinamide" "(5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol" "E3 ubiquitin-protein ligase RBBP6" @@ -39434,9 +39435,9 @@ "dihydroferulic acid" "ovarian myxoid liposarcoma" "eukaryotic-type large ribosomal subunit protein uL18" + "Chondrodysplasia - disorder of sex development" "level of glutathione-requiring prostaglandin D synthase in blood serum" "leukocyte" - "Chondrodysplasia - disorder of sex development" "E3 ubiquitin-protein ligase MYCBP2" "intellectual disability-polydactyly-uncombable hair syndrome" "TERF1-interacting nuclear factor 2" @@ -39487,8 +39488,8 @@ "disease related to hematopoietic stem cell transplant" "25-hydroxycholesterol" "Proximal muscle weakness in lower limbs" - "X-12830 measurement" "prevotella seropositivity" + "X-12830 measurement" "level of translation initiation factor IF-3, mitochondrial in blood serum" "sarcomatoid squamous cell carcinoma" "thymoma type B" @@ -39522,9 +39523,9 @@ "polypeptide N-acetylgalactosaminyltransferase 11 measurement" "17q11 microdeletion syndrome" "Cholecystitis, Acute" - "infectious colitis" "RT4-D6P2T" "non-alcoholic pancreatitis"@en + "infectious colitis" "erythropoietic uroporphyria associated with myeloid malignancy" "HCC4011" "3-(indol-3-yl)lactate" @@ -39600,9 +39601,9 @@ "ciliary body disorder" "1-palmitoleoyl-GPI (16:1) measurement" "HIV-associated nephropathy" - "trait in response to stavudine" "oculocutaneous albinism type 6" "partial duplication of the long arm of chromosome X" + "trait in response to stavudine" "obsolete_arm" "Schwann cell" "level of small vasohibin-binding protein in blood serum" @@ -39641,15 +39642,15 @@ "PHAVER syndrome" "level of tryptophan 2,3-dioxygenase in blood serum" "X-linked cone-rod dystrophy 1" - "growth/differentiation factor 15" "polypeptide N-acetylgalactosaminyltransferase 3 measurement" + "growth/differentiation factor 15" "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4" - "prolargin measurement" "Euphorbia esula" "uterine leiomyosarcoma cell line" "Poor head control" "EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor" "vascular cell adhesion molecule-1 measurement" + "prolargin measurement" "trimethylamine measurement" "15q24 microdeletion syndrome" "chordin measurement" @@ -39680,9 +39681,9 @@ "nephrotic syndrome, type 22" "aortic valve atresia" "Sandhoff disease, infantile form" + "chlorophacinone measurement" "demyelinating disease" "nemaline myopathy" - "chlorophacinone measurement" "obsolete_somite 4" "acute myelomonocytic leukemia" "benign metastasizing leiomyoma" @@ -39777,8 +39778,8 @@ "15-methylpalmitate measurement" "3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio" "obsolete_American" - "acetate" "Pericardial constriction" + "acetate" "tooth agenesis, selective, 2" "familial osteosclerosis" "thoracolaryngopelvic dysplasia" @@ -39808,8 +39809,8 @@ "HG02852" "aldo-keto reductase family 1 member C1 measurement" "Y79" - "apolipoprotein H measurement"@en "T-lymphocyte surface antigen Ly-9 measurement" + "apolipoprotein H measurement"@en "cancer or benign tumor, non-human animal" "filarial elephantiasis" "level of PDZ domain-containing protein GIPC2 in blood" @@ -39868,11 +39869,11 @@ "pressure unit" "CS57598" "ubiquitin-conjugating enzyme E2 B" + "Atrial septal defect - atrioventricular conduction defects" "leukoencephalopathy with vanishing white matter 1" "Penile hypospadias" "Epicanthus" "level of ankyrin repeat family A protein 2 in blood" - "Atrial septal defect - atrioventricular conduction defects" "G112" "beta-soluble NSF attachment protein measurement" "Amphiura filiformis" @@ -39911,8 +39912,8 @@ "obsolete_allergy" "obsolete_ST3GAL5-CDG" "Hyalitis" - "ATC Code G Genito-urinary system and sex hormones" "collecting duct of renal tubule" + "ATC Code G Genito-urinary system and sex hormones" "2-linoleoylglycerophosphoethanolamine measurement" "fibroblast growth factor 19 measurement" "CLIP-associating protein 1" @@ -39981,10 +39982,10 @@ "articular cartilage disorder" "positive regulation of renal sodium excretion" "Jervell and Lange-Nielsen syndrome 2" + "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "stomach rupture" "autosomal recessive spastic paraplegia type 69" "cycloheximide" - "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome" "arteriovenous hemangioma/malformation" "cystatin-S measurement" @@ -40016,8 +40017,8 @@ "level of protein DPCD in blood serum" "extended oligoarticular juvenile idiopathic arthritis" "spermatogenic failure 18" - "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "level of leucine zipper protein 2 in blood" + "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "response to mTOR inhibitor" "level of transmembrane protein 234 in blood serum" "single cell isolation protocol" @@ -40095,17 +40096,17 @@ "hTERT-HME1 cell" "multiple congenital anomalies-hypotonia-seizures syndrome 3" "Short ulna - dysmorphism - hypotonia - intellectual disability" - "neurocristopathy" "epithelial tumor of anal canal" "obsolete_pars intercerebralis" "intellectual disability, autosomal dominant 47" "Hiatus hernia" + "neurocristopathy" "mitochondrial complex 4 deficiency, nuclear type 17" "hemoglobin C disease" + "obsolete_pontocerebellar hypoplasia type 8" "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" - "obsolete_pontocerebellar hypoplasia type 8" "benign paroxysmal tonic upgaze of childhood with ataxia" "1-methylguanidine measurement" "obsolete_autosomal recessive proximal renal tubular acidosis" @@ -40153,8 +40154,8 @@ "stamen" "level of phosphomannomutase 2 in blood" "nephrin" - "response to immunochemotherapy" "Phodopus sungorus" + "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" "CUB and zona pellucida-like domain-containing protein 1 measurement" @@ -40165,9 +40166,9 @@ "post-operative delirium" "GTP-binding protein SAR1a" "obsolete_benign partial epilepsy of infancy with complex partial seizures" + "X-24804 measurement" "level of zinc finger protein 230 in blood serum" "level of biogenesis of lysosome-related organelles complex 1 subunit 2 in blood serum" - "X-24804 measurement" "level of Phosphatidylethanolamine (18:1_0:0) in blood serum" "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "level of UPF0235 protein C15orf40 in blood serum" @@ -40407,16 +40408,16 @@ "CORL279" "CS57620" "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" + "SURF1-related Charcot-Marie-Tooth disease type 4" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" "Genetic congenital limb malformation" - "SURF1-related Charcot-Marie-Tooth disease type 4" "obsolete_primary pigmented nodular adrenocortical disease" "level of translin in blood serum" "tropomyosin beta chain measurement" "level of Ras-related protein Rab-2A in blood serum" + "Common Hematopoietic Neoplasm" "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "retinal melanoma" - "Common Hematopoietic Neoplasm" "BCKN-1" "phosphatidylcholine diacyl C36:3 measurement" "hereditary epidermal appendage anomaly" @@ -40479,8 +40480,8 @@ "autism spectrum disorder due to AUTS2 deficiency" "eye injury" "tenascin-X" - "ornithine carbamoyltransferase deficiency" "BG01" + "ornithine carbamoyltransferase deficiency" "leucine-rich repeat and fibronectin type-III domain-containing protein 2" "sedoheptulokinase" "level of enoyl-CoA Delta isomerase 2 in blood serum" @@ -40511,8 +40512,8 @@ "familial renal glucosuria" "dihomo-gamma-linolenic acid measurement" "Arthrogryposis multiplex congenita - whistling face" - "rhabdoid tumor predisposition syndrome 2" "Short stature, Dauber-Argente type" + "rhabdoid tumor predisposition syndrome 2" "synaptotagmin-8" "COP9 signalosome complex subunit 5" "immunodeficiency 114, folate-responsive" @@ -40541,15 +40542,15 @@ "platelet glycoprotein V" "thiopurine" "bleomycin hydrolase" + "obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "obsolete_hypomandibular faciocranial dysostosis" "Cafe-au-lait spot" - "obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "obsolete syndromic nail anomaly" "level of late cornified envelope protein 3C in blood serum" + "level of mitotic spindle assembly checkpoint protein MAD1 in blood serum" "benign neoplasm of anus" "bladder benign neoplasm" "Anemia" - "level of mitotic spindle assembly checkpoint protein MAD1 in blood serum" "beta-1,4-galactosyltransferase 1" "level of 39S ribosomal protein L55, mitochondrial in blood serum" "gap junction alpha-8 protein measurement" @@ -40577,8 +40578,8 @@ "concentrated" "level of acyl-CoA-binding domain-containing protein 6 in blood serum" "NH4_C38:5 DAG_or_TAG_fragment measurement" - "posterior meningocele" "mucocutaneous Leishmaniasis" + "posterior meningocele" "systemic artery" "protein WWC1" "hereditary sclerosing poikiloderma, Weary type" @@ -40700,9 +40701,9 @@ "language disorder" "partial duplication of the short arm of chromosome 8" "GM25256" + "Rare male infertility due to testicular endocrine disorder" "immunoglobulin E measurement" "Mus musculus musculus x M. m. domesticus" - "Rare male infertility due to testicular endocrine disorder" "Methylmalonic acid measurement" "endolymphatic sac" "obsolete_dysplasia epiphysealis hemimelica" @@ -40767,8 +40768,8 @@ "long QT syndrome 15" "Glu-Glu" "Postaxial polydactyly - dental and vertebral anomalies" - "protein kinase C-binding protein NELL2 measurement" "Drosophila mauritiana" + "protein kinase C-binding protein NELL2 measurement" "trait in response to oxaliplatin" "iniencephaly" "obsolete_HepG2" @@ -40842,9 +40843,9 @@ "hemoglobin E disease" "Fibrous Meningioma" "hypercholanemia, familial 1" + "obsolete_autosomal dominant distal renal tubular acidosis" "NL2099" "milli-International Unit per milliliter" - "obsolete_autosomal dominant distal renal tubular acidosis" "level of out at first protein in blood serum" "Mixed Tumor, Mesodermal" "Müllerian duct anomalies - limb anomalies" @@ -40878,11 +40879,11 @@ "neurodevelopmental disorder with absent language and variable seizures" "serine/threonine-protein kinase MRCK alpha measurement" "alpha-N-acetylgalactosaminidase deficiency type 1" - "regenerating islet-derived protein 3-alpha measurement" "sumo-conjugating enzyme UBC9 measurement" - "TTC549" + "regenerating islet-derived protein 3-alpha measurement" "insulin-resistance syndrome type B" "Proximal tibial hypoplasia" + "TTC549" "Primrose syndrome" "3-Indolepropionic acid to Trimethylamine N-oxide ratio" "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" @@ -41009,15 +41010,15 @@ "microphthalmia, isolated, with coloboma 10" "level of calcyphosin in blood" "regulator of G-protein signaling 3 measurement" + "diacylglycerol 32.2 measurement" "level of keratin, type II cytoskeletal 1 in blood" "dermatofibrosarcoma protuberans" "obsolete_digestive system component" "obsolete_embryonic central brain surface glia" "osteonecrosis of genetic origin" "urotensin-2B" - "diacylglycerol 32.2 measurement" - "Hypernasal speech" "obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy" + "Hypernasal speech" "obsolete_immunodeficiency with factor H anomaly" "acquired Fanconi syndrome" "intermediate trophoblast cell" @@ -41148,15 +41149,15 @@ "Brassica carinata" "level of transmembrane and immunoglobulin domain-containing protein 2 in blood serum" "tandem mass spectrometry" + "Autism spectrum disorder-epilepsy-arthrogryposis syndrome" "Illumina NovaSeq X Plus"@en "Pneumonia" "cathasterone" - "Autism spectrum disorder-epilepsy-arthrogryposis syndrome" "obsolete_partial duplication of the short arm of chromosome 4" + "triacylglycerol 54:7 measurement"@en "osteoclast-associated immunoglobulin-like receptor" "Wistar" "serum IgG measurement" - "triacylglycerol 54:7 measurement"@en "pharyngeal muscle cell" "level of interleukin-17 receptor B in blood serum" "plasma renin activity measurement" @@ -41216,8 +41217,8 @@ "obsolete acquired paroxysmal nocturnal hemoglobinuria" "level of lipocalin-1 in blood serum" "level of carbonic anhydrase 5B, mitochondrial in blood serum" - "beta-1,4-galactosyltransferase 2" "3-hydroxyhippurate measurement" + "beta-1,4-galactosyltransferase 2" "microtubule-associated proteins 1A/1B light chain 3 beta 2" "prostate and testis expressed protein 1 measurement" "filamin-A measurement" @@ -41301,8 +41302,8 @@ "nerve plexus disease" "trypsin-2 measurement" "level of ADP-ribosylation factor-like protein 1 in blood serum" - "mitral valve prolapse, myxomatous 2" "Colorectal Serrated Adenocarcinoma" + "mitral valve prolapse, myxomatous 2" "proteasome activator complex subunit 3 measurement" "obsolete_open iniencephaly" "immunoglobulin J chain measurement" @@ -41434,9 +41435,9 @@ "obsolete_Arbisopsis thaliana" "response to Par-4 dependent chemotherapy"@en "splenocyte" - "digestive system surgery"@en "brachydactyly type B" "liver" + "digestive system surgery"@en "autosomal dominant omodysplasia" "papillary lung adenocarcinoma" "level of NEDD8-activating enzyme E1 catalytic subunit in blood serum" @@ -41560,8 +41561,8 @@ "mesomelia-synostoses syndrome" "Lon protease, mitochondrial" "Blurred vision" - "level of transaldolase in blood" "phosphatidylcholine 32:0 measurement"@en + "level of transaldolase in blood" "circadian sleep/wake cycle, non-REM sleep" "Weaver syndrome" "obsolete_distal portion of anterior interventricular branch of left coronary artery" @@ -41590,8 +41591,8 @@ "tall stature-scoliosis-macrodactyly of the great toes syndrome" "bone osteosarcoma" "neuroendocrine carcinoma" - "5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement" "acrodermatitis" + "5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement" "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome" "glutathione S-transferase kappa 1" "His-Leu" @@ -41604,8 +41605,8 @@ "level of immunoglobulin superfamily member 3 in blood serum" "achromatopsia" "B-1b B cell" - "beta-defensin 105 measurement" "gastrin-releasing peptide measurement" + "beta-defensin 105 measurement" "HuNS1" "Proximal muscle weakness in upper limbs" "HG03432" @@ -41663,10 +41664,10 @@ "HS-27A" "Dysmorphism - short stature - deafness - disorder of sex development" "distal monosomy 10p" + "5-sulfo-13-benzenedicarboxylic acid measurement" "atrial conduction disease" "GM17197" "neuritis" - "5-sulfo-13-benzenedicarboxylic acid measurement" "response to trauma exposure" "rhabdomyosarcoma" "mitochondrial complex 4 deficiency, nuclear type 19" @@ -41692,8 +41693,8 @@ "optic tract meningioma" "Leukocyte adhesion deficiency type III" "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" - "Lip pit" "nidogen-2 measurement" + "Lip pit" "level of threonine--tRNA ligase 1, cytoplasmic in blood" "obsolete_fountain syndrome" "histone deacetylase 9" @@ -41703,11 +41704,11 @@ "level of calsequestrin-2 in blood" "obsolete_16p13.11 microduplication syndrome" "syndromic multisystem autoimmune disease due to ITCH deficiency" - "obsolete_combined oxidative phosphorylation defect type 13" "alpha-N-acetylgalactosaminidase deficiency type 2" "obsolete avascular necrosis of genetic origin" "sapropterin dihydrochloride" "level of keratin, type I cytoskeletal 14 in blood" + "obsolete_combined oxidative phosphorylation defect type 13" "diastolic heart failure" "regulator of microtubule dynamics protein 3 measurement" "taurodeoxycholic acid 3-sulfate measurement" @@ -41789,10 +41790,10 @@ "obsolete inherited prion disease" "coronary vessel" "obsolete_congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" + "Colo-320" "Sneeze" "level of vasorin in blood serum" "multiple sclerosis" - "Colo-320" "CS57622" "Autosomal ichthyosis syndrome with prominent neurologics signs" "hydroxymethylglutaryl-CoA synthase, cytoplasmic measurement" @@ -41807,10 +41808,10 @@ "obsolete_Autosomal recessive syndromic optic atrophy" "iron ion homeostasis" "obsolete_Robinow syndrome" - "Familial retinoblastoma" - "bone measurement" "gamma-aminobutyric acid receptor-associated protein-like 1" "hydrarthrosis" + "bone measurement" + "Familial retinoblastoma" "tax1-binding protein 3 measurement" "3-Indolepropionic acid to Myoinositol ratio" "microtia" @@ -41843,8 +41844,8 @@ "mesomelic dwarfism, Reinhardt-Pfeiffer type" "Chlorocebus sabaeus" "GM09607 cell" - "articular system" "ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement" + "articular system" "obsolete_7q31 microdeletion syndrome" "creatine biosynthetic process disease" "Ck-beta-8-1 measurement" @@ -41854,9 +41855,9 @@ "obsolete_myelocystocele" "ABetaL34V amyloidosis" "pemphigus" + "obsolete_X and Y chromosomal anomaly" "lead atom" "coloboma of choroid and retina" - "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" "embryonic central nervous system" @@ -41923,8 +41924,8 @@ "obsolete_spondyloepiphyseal dysplasia congenita" "validation by real time PCR design" "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" - "3-Indolepropionic acid to Hippuric acid ratio" "bromocriptine methanesulfonate" + "3-Indolepropionic acid to Hippuric acid ratio" "obsolete intercalary limb defects" "ether lipid biosynthetic process" "congenital disorder of deglycosylation 2" @@ -41988,8 +41989,8 @@ "level of semaphorin-3F in blood serum" "SMDB" "level of probable RNA-binding protein EIF1AD in blood serum" - "level of C-type lectin domain family 2 member A in blood serum" "monolayer-surrounded lipid storage body" + "level of C-type lectin domain family 2 member A in blood serum" "26S proteasome regulatory subunit 6A" "obsolete_congenital high-molecular-weight kininogen deficiency" "level of calmodulin-regulated spectrin-associated protein 1 in blood" @@ -42025,10 +42026,10 @@ "tonsil cancer" "HSC-3" "GM15227" - "Human immunodeficiency virus" "level of beta-defensin 1 in blood serum" "tarsal-carpal coalition syndrome" "chitosan" + "Human immunodeficiency virus" "Pierson syndrome" "level of protein argonaute-1 in blood serum" "esophageal granular cell tumor" @@ -42037,9 +42038,9 @@ "hyper-IgE syndrome 6, autosomal dominant, with recurrent infections" "ATP-dependent RNA helicase A" "glutaredoxin-2, mitochondrial" - "regulation of nuclear pre-mRNA domain-containing protein 1A measurement" "Charcot-Marie-Tooth disease axonal type 2K" "obsolete_SKMEL5" + "regulation of nuclear pre-mRNA domain-containing protein 1A measurement" "X-13726 measurement" "Lowry-MacLean syndrome" "obsolete_short chain acyl-CoA dehydrogenase deficiency" @@ -42055,8 +42056,8 @@ "Zea mays subsp. mays" "NCI-H727" "antidepressant-induced hearing impairment" - "obsolete_Ulbright-Hodes syndrome" "alpha-1,3/1,6-mannosyltransferase ALG2" + "obsolete_Ulbright-Hodes syndrome" "anatomical system" "small cell carcinoma" "Sjogren-Larsson syndrome" @@ -42090,8 +42091,8 @@ "uterine ligament serous adenocarcinoma" "Coregonus clupeaformis" "ventriculomegaly and arthrogryposis" - "level of microtubule-associated proteins 1A/1B light chain 3A in blood" "DIP-seq" + "level of microtubule-associated proteins 1A/1B light chain 3A in blood" "thioredoxin domain-containing protein 12 measurement" "obsolete_disorder of lipid absorption and transport" "focal epithelial hyperplasia" @@ -42146,8 +42147,8 @@ "chymotrypsin-like elastase family member 3B measurement" "obsolete nitrogen compound metabolic process" "arthus reaction" - "disks large homolog 3" "X-24806 measurement" + "disks large homolog 3" "level of acetylcholinesterase in blood serum" "L-lactate dehydrogenase B chain measurement" "Anosmia" @@ -42192,11 +42193,11 @@ "Abnormal sperm morphology" "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" - "Abnormal toenail morphology" - "obsolete_Caucasian" "response to nivolumab"@en - "Spinocerebellar ataxia type 42" "phenol sulfate measurement" + "Abnormal toenail morphology" + "Spinocerebellar ataxia type 42" + "obsolete_Caucasian" "hyperargininemia" "HC toxin" "Thromboembolism" @@ -42226,8 +42227,8 @@ "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement" "endophenotype" "lymphoproliferative syndrome 1" - "creatinine clearance measurement" "Cryptococcus neoformans" + "creatinine clearance measurement" "4-cell embryo Ce" "skin squamous cell carcinoma in situ" "VT847" @@ -42277,8 +42278,8 @@ "large ribosomal subunit protein mL38" "obsolete_neurogenic palpebral tumor" "persistent Staphylococcus aureus carrier status" - "level of insulin-like growth factor-binding protein 3 in blood serum" "Gingival fibromatosis - progressive deafness" + "level of insulin-like growth factor-binding protein 3 in blood serum" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" @@ -42350,23 +42351,23 @@ "pelargonate 9:0 measurement" "telangiectatic osteogenic sarcoma" "partial deletion of chromosome 6" - "epiblast cell" "fibroblast growth factor receptor 3 measurement" + "epiblast cell" "increased heart weight" "Char syndrome" "anaplastic ependymoma" "EM464" "honey-droplet corneal dystrophy" "neuropilin-2 measurement" - "obsolete_Stickler syndrome" "juvenile type testicular granulosa cell tumor" + "obsolete_Stickler syndrome" "orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 measurement" "placenta praevia" "level of ATP-dependent RNA helicase DHX58 in blood serum" + "obsolete_Parkes Weber syndrome" "renal osteodystrophy" "level of gastrotropin in blood serum" "Limb joint contracture" - "obsolete_Parkes Weber syndrome" "COVID-19 symptoms measurement" "response to transplant" "MCF-7aro" @@ -42502,9 +42503,9 @@ "tenascin-X measurement" "5C" "1-methylhistamine measurement" + "mammographic density percentage" "Charcot-Marie-Tooth disease, axonal, Type 2HH" "UDP-glucuronic acid decarboxylase 1" - "mammographic density percentage" "age of onset of colorectal cancer" "level of equatorin in blood serum" "breast adenosis" @@ -42545,10 +42546,10 @@ "Hyperleucinemia" "level of guanine nucleotide-binding protein G(i) subunit alpha-1 in blood serum" "clcn4-related disorder" + "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" "embryonic corpus allatum" "obsolete osteochondrosis of genetic origin" "GM12891" - "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" "CIP-TAP" "level of voltage-gated potassium channel KCNF1 in blood serum" "leiomyoma" @@ -42588,16 +42589,16 @@ "level of polypeptide N-acetylgalactosaminyltransferase 14 in blood serum" "insulin-like growth factor-binding protein 2 measurement" "obsolete_autosomal dominant vitreoretinochoroidopathy" - "multiple congenital anomalies-hypotonia-seizures syndrome" "Partial deletion of the short arm of chromosome 4" + "multiple congenital anomalies-hypotonia-seizures syndrome" "obsolete_Mowat-Wilson syndrome due to monosomy 2q22" "social anxiety disorder" "serine/threonine-protein kinase LATS1" "46,XX disorder of sex development - anorectal anomalies" "myoclonic epilepsy, juvenile, susceptibility to, 1" "non-lobar intracerebral hemorrhage"@en - "salmonella seropositivity" "obsolete_hypokalemic periodic paralysis" + "salmonella seropositivity" "angiokeratoma of Fordyce" "Jaberi-Elahi syndrome" "KH domain-containing protein 3-like" @@ -42637,13 +42638,13 @@ "C syndrome" "level of serpin A12 in blood serum" "immunoglobulin heavy constant alpha 2" - "autonomic dysreflexia" "SMiLE-seq" + "autonomic dysreflexia" "proton-coupled zinc antiporter SLC30A5" "level of ER membrane protein complex subunit 4 in blood serum" "bone geometry" - "GM17257" "3-methylglutaconic aciduria, type VIIB" + "GM17257" "Tay-Sachs disease, b variant, juvenile form" "Nail pterygium" "obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques" @@ -42665,8 +42666,8 @@ "phenol" "Dyspnea" "striatonigral degeneration, childhood-onset" - "Angiokeratoma corporis diffusum" "C34:2 phosphatidylethanolamine measurement" + "Angiokeratoma corporis diffusum" "meningoencephalocele" "NEDD4-like E3 ubiquitin-protein ligase WWP2" "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" @@ -42735,11 +42736,11 @@ "obsolete_tooth ankylosis" "obsolete_ring chromosome 3" "protein NOV" - "blood 3-hydroxymyristate measurement" "GM10847" "BDCM" "hormone role" "hearing loss, autosomal recessive 110" + "blood 3-hydroxymyristate measurement" "granular cell cancer" "nuclear pore membrane glycoprotein 210-like" "Calcification of muscles" @@ -42804,8 +42805,8 @@ "eye swelling" "streptococcal pneumonia" "response to beta blocker" - "rheumatic pulmonary valve disease" "myristoleate 14:1n5 measurement" + "rheumatic pulmonary valve disease" "DLAF" "IgG-negative double negative memory B cell" "COP9 signalosome complex subunit 7b" @@ -42843,8 +42844,8 @@ "autism, susceptibility to, 10" "obsolete_B-precursor acute lymphoblastic leukemia" "Atypical progressive supranuclear palsy" - "transferrin glycosylation measurement"@en "brachydactyly type A5" + "transferrin glycosylation measurement"@en "combined pulmonary fibrosis-emphysema syndrome" "spermatogenic failure 14" "level of C-type lectin domain family 2 member D in blood serum" @@ -42852,8 +42853,8 @@ "level of 26S proteasome non-ATPase regulatory subunit 11 in blood" "endometrioid stromal and related neoplasms of the cervix" "fallopian tube benign neoplasm" - "inactive dipeptidyl peptidase 10 measurement" "beta-galactoside alpha-2,6-sialyltransferase 1" + "inactive dipeptidyl peptidase 10 measurement" "lysine" "Spondyloepimetaphyseal dysplasia, Pakistani type" "level of tumor necrosis factor alpha-induced protein 8 in blood serum" @@ -43013,8 +43014,8 @@ "antiemetic" "vascular endothelial function measurement"@en "obsolete_juvenile hyaline fibromatosis" - "Alopecia-contractures-dwarfism-intellectual disability syndrome" "obsolete_Charcot-Marie-Tooth disease type 2B1" + "Alopecia-contractures-dwarfism-intellectual disability syndrome" "matrix metalloproteinase-20" "Sensorineural deafness with dilated cardiomyopathy" "pipecolate" @@ -43039,9 +43040,9 @@ "Postpericardiotomy Syndrome" "level of Ras-related protein Rab-43 in blood serum" "undecanoate 11:0 measurement" + "N-acetylglutamine measurement" "Abnormal nasopharyngeal adenoid morphology" "fibroblast growth factor receptor 4 measurement" - "N-acetylglutamine measurement" "AG14446" "other organism part" "Ewing sarcoma/peripheral primitive neuroectodermal tumor" @@ -43109,12 +43110,12 @@ "perirhinal cortex" "defensin beta 4A" "level of T-cell leukemia/lymphoma protein 1A in blood" - "obsolete_proximal spinal muscular atrophy" "obsolete_carnitine-acylcarnitine translocase deficiency" - "oral lichen planus" + "obsolete_proximal spinal muscular atrophy" "level of CD2-associated protein in blood" "glucan 1,4-alpha-glucosidase activity" "Beemer-Langer syndrome" + "oral lichen planus" "Fanconi renotubular syndrome 2" "rectum adenoma" "retbindin measurement" @@ -43144,9 +43145,9 @@ "calcipressin-2" "trichorhinophalangeal syndrome type II" "level of ATP-binding cassette sub-family A member 2 in blood" - "Dilated cardiomyopathy with ataxia" "level of signal recognition particle 14 kDa protein in blood serum" "zona pellucida-binding protein 1" + "Dilated cardiomyopathy with ataxia" "level of tissue factor pathway inhibitor 2 in blood serum" "vitamin D receptor signaling pathway" "level of isocitrate dehydrogenase [NADP] cytoplasmic in blood serum" @@ -43160,8 +43161,8 @@ "X-11327 measurement" "obsolete_coxopodopatellar syndrome" "contactin-associated protein 1 measurement" - "peroxisome proliferator-activated receptor alpha" "obsolete_X-linked non progressive cerebellar ataxia" + "peroxisome proliferator-activated receptor alpha" "vital capacity" "pineal parenchymal cell neoplasm" "eating behaviour" @@ -43195,8 +43196,8 @@ "level of peptide chain release factor 1-like, mitochondrial in blood serum" "CLN5 disease" "Bilateral renal hypoplasia" - "Spondyloperipheral dysplasia - short ulna" "familial pancreatic carcinoma" + "Spondyloperipheral dysplasia - short ulna" "Arterio-Arterial Fistula" "transcriptional enhancer factor TEF-5" "methoxychlor" @@ -43225,8 +43226,8 @@ "phenyl hydrogen sulfate" "testosterone" "congenital pulmonary lymphangiectasia" - "papillary cystadenoma" "Dental malocclusion" + "papillary cystadenoma" "single Ig IL-1-related receptor" "non-renal secondary hyperparathyroidism" "(1->3)-beta-D-glucan" @@ -43267,8 +43268,8 @@ "phosphatidylcholine acyl-alkyl C32:2 measurement" "allergen exposure measurement" "insulin-like growth factor-binding protein 4 measurement" - "integrin beta-1" "obsolete_cephalic musculature" + "integrin beta-1" "coronary artery disease, severe, susceptibility to" "urethral villous adenoma" "CHP212" @@ -43354,15 +43355,15 @@ "protein glycosylation" "SMIT" "HCC1159" - "hip geometry" "level of protein FAM102B in blood serum" + "hip geometry" "disopyramide" "distal trisomy 7p" "J.CaM2.5"@en + "tensin-2 measurement" "bone quantitative ultrasound measurement" "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "GM17258" - "tensin-2 measurement" "Philippines"@en "Philippines" "level of coiled-coil and C2 domain-containing protein 1A in blood" @@ -43579,8 +43580,8 @@ "intestinal motility disease" "Breech presentation" "level of neural proliferation differentiation and control protein 1 in blood serum" - "obsolete_Eastern Indian" "internet addiction disorder"@en + "obsolete_Eastern Indian" "myopathy caused by variation in CRPPA" "chronic tic disorder" "obsolete_B lymphocyte" @@ -43660,10 +43661,10 @@ "sphingomyeline C26:0 measurement" "ring chromosome 1" "Genetic renal tumor" - "Cleidocranial dysplasia and isolated cranial ossification defect" "BNP measurement" - "X-linked intellectual disability, Schimke type" + "Cleidocranial dysplasia and isolated cranial ossification defect" "eugenol" + "X-linked intellectual disability, Schimke type" "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3" "level of MHC class I histocompatibility antigen A alpha chain in blood" "level of mitogen-activated protein kinase kinase kinase kinase 5 in blood" @@ -43699,12 +43700,12 @@ "Multiple non-ossifying fibromatosis" "obsolete_alopecia antibody deficiency" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" - "tricuspid valve prolapse" "methylmalonyl-CoA epimerase, mitochondrial measurement" - "heat shock protein HSP 90-beta measurement" + "tricuspid valve prolapse" "acrodysostosis 2 with or without hormone resistance" "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" "nucleoside biosynthetic process" + "heat shock protein HSP 90-beta measurement" "neuronal ceroid lipofuscinosis 9" "median fin skeleton" "sex hormone-binding globulin" @@ -43880,8 +43881,8 @@ "tyrosine measurement" "level of immunoglobulin heavy constant alpha 1 in blood serum" "diverticular disease" - "distal myopathy, Welander type" "random exon sequencing" + "distal myopathy, Welander type" "serine--tRNA ligase, cytoplasmic" "age related macular degeneration 4" "level of putative protein-lysine deacylase ABHD14B in blood" @@ -43901,9 +43902,9 @@ "obsolete_mitral valve" "myoclonus, familial" "level of Ras-related protein Rab-4A in blood serum" + "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "prostaglandins measurement" "very low density lipoprotein cholesterol measurement" - "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "N-acetyltryptophan measurement" "thymus atrophy" "Calcium oxalate nephrolithiasis" @@ -44084,14 +44085,14 @@ "non-dense area measurement" "level of coiled-coil domain-containing protein 50 in blood" "obsolete_LCAT deficiency" - "lysine measurement" "mitochondrial DNA depletion syndrome 8a" + "lysine measurement" "xeroderma pigmentosum group C" "obsolete_congenital patella dislocation, bilateral" "bulk immune repertoire sequencing" "sarcolemmal membrane-associated protein" - "esterified cholesterol change measurement" "intermediate DEND syndrome" + "esterified cholesterol change measurement" "heterogeneous nuclear ribonucleoprotein A1" "level of homer protein homolog 3 in blood serum" "8505C" @@ -44117,11 +44118,11 @@ "agoraphobia symptom measurement" "level of beta-defensin 106 in blood serum" "Kleefstra syndrome due to a point mutation" + "obsolete_trisomy 5p" "blood 2,3-dihydroxypyridine measurement" "childhood central nervous system immature teratoma" "level of serine/threonine-protein kinase LATS1 in blood" "endothelin-converting enzyme-like 1" - "obsolete_trisomy 5p" "montelukast" "Ear pain" "inborn disorder of pyridoxine metabolism" @@ -44130,9 +44131,9 @@ "hypotaurine measurement"@en "CXCL12 measurement" "phenothiazine antipsychotic drug" + "regulator of G-protein signaling 8 measurement" "GM18507" "bronchus carcinoma in situ" - "regulator of G-protein signaling 8 measurement" "level of beta-enolase in blood serum" "level of voltage-gated potassium channel subunit KCNA10 in blood serum" "hemorrhagic fever with renal syndrome" @@ -44142,8 +44143,8 @@ "Toriello-Lacassie-Droste syndrome" "VIP36-like protein" "occupational disorder" - "2-aminooctanoate" "level of cornulin in blood" + "2-aminooctanoate" "cholesteryl ester 18:2 measurement"@en "target of Myb1 membrane trafficking protein" "Increased circulating ACTH level" @@ -44255,13 +44256,13 @@ "blood circulation" "mediastinal extraskeletal osteosarcoma" "level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum" + "obsolete_Premature aging" "U3082MG" "obsolete female infertility due to an anomaly of ovarian function of genetic origin" - "obsolete_Premature aging" "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement" - "obsolete_MDAMB-157" "GDNF family receptor alpha-like" "Fanconi anemia complementation group J" + "obsolete_MDAMB-157" "protein phosphatase 1 regulatory subunit 12A" "cytokinin" "polydactyly-macrocephaly syndrome" @@ -44277,8 +44278,8 @@ "level of epididymal secretory glutathione peroxidase in blood serum" "level of protein phosphatase 1A in blood serum" "dual specificity protein phosphatase 10" - "C36:3 phosphatidylethanolamine plasmalogen measurement" "obsolete_primary syringomyelia" + "C36:3 phosphatidylethanolamine plasmalogen measurement" "Rare lacrimal system disease" "SPARC measurement" "obsolete_NPHP3-related Meckel-like syndrome" @@ -44294,24 +44295,24 @@ "obsolete_Becker's muscular dystrophy" "primary root apical meristem" "transmembrane protein 190 measurement" - "X-21441 measurement" "ATRFLOX" + "X-21441 measurement" "immature NK T cell stage III" "checkpoint protein HUS1" "level of actin nucleation-promoting factor WAS in blood serum" "HCC1143" "Treponema infectious disease" - "obsolete_bulbospinal muscular atrophy" "X-13496 measurement" "plexin-B3" "BFTC905" + "obsolete_bulbospinal muscular atrophy" "Bladder Squamous Cell Carcinoma" "sphingomyeline C26:1 measurement" "parasitic endophthalmitis" "cardiac granular cell neoplasm" "Beta blocking agent use measurement" - "autosomal recessive distal spinal muscular atrophy 1" "level of ornithine transcarbamylase, mitochondrial in blood serum" + "autosomal recessive distal spinal muscular atrophy 1" "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)" "level of MHC class II histocompatibility antigen alpha chain DRA in blood" "uterine leiomyosarcoma" @@ -44367,11 +44368,11 @@ "10x sequencing protocol" "atmosphere unit" "Syndromic diarrhea" - "obsolete_Fraser syndrome" - "Acromelic frontonasal dysplasia" "asymptomatic myeloma" + "obsolete_Fraser syndrome" "N6-Acetyl-L-lysine measurement" "rib" + "Acromelic frontonasal dysplasia" "Lassa fever" "BAFopathy" "spastic paraplegia-Paget disease of bone syndrome" @@ -44411,8 +44412,8 @@ "Prosthesis-Related Infections" "level of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 in blood serum" "obsolete_accelerated neurological senescence" - "left ventricular stroke volume measurement"@en "level of polycomb protein SCMH1 in blood serum" + "left ventricular stroke volume measurement"@en "obsolete_presumptive telencephalon" "methionine-R-sulfoxide reductase B2, mitochondrial" "lamin-B1 measurement" @@ -44426,9 +44427,9 @@ "ring chromosome 17" "lung adenocarcinoma grade" "primary lymphedema" - "obsolete_gestational trophoblastic neoplasm" "level of sphingosylphosphorylcholine receptor in blood serum" "level of protein FAM3C in blood" + "obsolete_gestational trophoblastic neoplasm" "level of hypoxia-inducible factor 1-alpha inhibitor in blood serum" "gap junction delta-2 protein" "polyp of rectum" @@ -44465,13 +44466,13 @@ "level of a disintegrin and metalloproteinase with thrombospondin motifs 8 in blood" "obsolete_pontocerebellar hypoplasia type 3" "fibroblast growth factor 23 measurement" - "Plasmodium vivax malaria" "spindle cell intraocular melanoma" "X-linked endothelial corneal dystrophy" + "Plasmodium vivax malaria" "level of ezrin in blood serum" "level of glycolipid transfer protein domain-containing protein 2 in blood serum" - "partial bilateral aplasia of the mullerian ducts" "pyrenocyte" + "partial bilateral aplasia of the mullerian ducts" "neurohypophysis" "hereditary benign intraepithelial dyskeratosis" "obsolete_2-hydroxyglutaric aciduria" @@ -44480,8 +44481,8 @@ "MED-MEB-8A"@en "acute myeloid leukemia, t(15;17)(q24;q21)" "obsolete_familial multiple fibrofolliculoma" - "obsolete_hemifacial hypertrophy" "level of U2 small nuclear ribonucleoprotein B'' in blood serum" + "obsolete_hemifacial hypertrophy" "sublingual gland" "intellectual disability, Wolff type" "21-hydroxypregnenolone disulfate measurement" @@ -44491,10 +44492,10 @@ "ADP-ribose glycohydrolase MACROD2" "pulmonary fibrosis" "Illumina NextSeq 2000" - "tubulin--tyrosine ligase-like protein 12" "obsolete_Non hereditary congenital primary lymphedema" - "obsolete_liver (Rattus rattus)" + "tubulin--tyrosine ligase-like protein 12" "cardiac embolism" + "obsolete_liver (Rattus rattus)" "pulmonary alveolitis" "lower urinary tract calculus" "level of alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A in blood serum" @@ -44600,8 +44601,8 @@ "obsolete_apodia" "bacterial pneumonia" "GM14508" - "1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement" "core-binding factor subunit beta" + "1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement" "obsolete_Roberstonian translocation" "disseminated superficial actinic porokeratosis" "obsolete_ophthalmomandibulomelic dysplasia" @@ -44663,8 +44664,8 @@ "cathelicidin antimicrobial peptide" "Genetic respiratory malformation" "Retinal degeneration - nanophthalmos - glaucoma" - "obsolete_X-linked intellectual disability, Porteous type" "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" + "obsolete_X-linked intellectual disability, Porteous type" "sample dissociation" "obsolete_heart tube" "bacterial myocarditis" @@ -44718,13 +44719,13 @@ "level of acrosin-binding protein in blood" "obsolete_congenital pseudoarthrosis of the fibula" "Riboflavin measurement" + "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "neuron associated cell (sensu Vertebrata)" "dermatitis, atopic, susceptibility to" "purine ribonucleoside triphosphate metabolic process" "magnetic resonance imaging of the heart"@en "negative regulation of circadian sleep/wake cycle, REM sleep" "level of casein kinase II subunit beta in blood serum" - "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "balanitis" "obsolete_paramyotonia congenita of Von Eulenburg" "adult pineoblastoma" @@ -44792,8 +44793,8 @@ "UV light regimen" "inhibitor of nuclear factor kappa-B kinase subunit beta" "ankylosing spondylitis disease activity score"@en - "NCI-H1693" "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" + "NCI-H1693" "polyamine-modulated factor 1" "complement C1r subcomponent-like protein" "inhalation anaesthetic" @@ -44860,8 +44861,8 @@ "CXCL13 measurement" "level of 26S proteasome non-ATPase regulatory subunit 4 in blood serum" "Bl-0" - "obsolete_AE experiment type flag" "respiratory system cancer" + "obsolete_AE experiment type flag" "level of ecto-NOX disulfide-thiol exchanger 2 in blood serum" "level of CD34 molecule in blood serum" "dodecanedioate(2-)" @@ -44875,8 +44876,8 @@ "Breast aplasia" "mucopolysaccharidosis type 3A" "X-17361 measurement" - "lower lobe of left lung" "interleukin-21 measurement" + "lower lobe of left lung" "Hippoglossus hippoglossus" "obsolete disease with diffuse palmoplantar keratoderma as a major feature" "cellular modification" @@ -44902,8 +44903,8 @@ "obsolete_autism spectrum disorder due to AUTS2 deficiency" "level of calcium-binding protein 2 in blood serum" "cotinine N-oxide measurement" - "replicate" "fructose-2,6-bisphosphatase TIGAR measurement" + "replicate" "level of TBC1 domain family member 23 in blood" "clostridium difficile infection" "testis-specific basic protein Y 1 measurement" @@ -44947,8 +44948,8 @@ "short fifth metacarpals-insulin resistance syndrome" "cranial neuralgia" "Myofibroma" - "testis-specific Y-encoded-like protein 1" "single cell immune repertoire sequencing" + "testis-specific Y-encoded-like protein 1" "Smart-seq2 protocol" "Acromelia" "neoplasm of major salivary gland" @@ -44986,10 +44987,10 @@ "CDK5 regulatory subunit-associated protein 3" "Pseudomonas syringae pv. tomato" "level of cartilage acidic protein 1 in blood" + "obsolete_secretory apparatus of the lacrimal system anomaly" "C36:3 phosphatidylserine plasmalogen measurement" "visual impairment and progressive phthisis bulbi" "oocyte maturation defect 11" - "obsolete_secretory apparatus of the lacrimal system anomaly" "spectrin alpha chain, non-erythrocytic 1 measurement" "serine/threonine-protein kinase DCLK3 measurement" "level of pulmonary surfactant-associated protein A2 in blood" @@ -45005,8 +45006,8 @@ "Smith-Lemli-Opitz syndrome" "urothelial carcinoma" "jejunal adenocarcinoma" - "Progressive supranuclear palsy - progressive non fluent aphasia" "protein disulfide isomerase CRELD2" + "Progressive supranuclear palsy - progressive non fluent aphasia" "Elevated erythrocyte sedimentation rate" "level of loss of heterozygosity 11 chromosomal region 2 gene A protein in blood" "respiratory system" @@ -45018,8 +45019,8 @@ "osteoporosis-pseudoglioma syndrome" "level of CYFIP-related Rac1 interactor B in blood serum" "obsolete_disorder of zinc metabolism" - "choroidal dystrophy, central areolar, 1" "X-21442 measurement" + "choroidal dystrophy, central areolar, 1" "immunodeficiency 74, COVID-19-related, X-linked" "autoimmune urticaria" "immature NK T cell stage IV" @@ -45059,9 +45060,9 @@ "polyethylene oxidized measurement" "obsolete_periaqueductal gray" "microfibril-associated glycoprotein 4 measurement" + "prolactin measurement" "SNU-620" "CAMA1" - "prolactin measurement" "protein LRATD2" "level of diacylglycerol kinase zeta in blood" "nucleotide biosynthetic process" @@ -45152,13 +45153,13 @@ "Populus balsamifera" "level of ceramide-1-phosphate transfer protein in blood" "ventral hyoid arch skeleton" + "DnaJ homolog subfamily C member 27 measurement" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" "level of interleukin-31 receptor A in blood serum" "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" - "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" "Bacteroides" @@ -45224,10 +45225,10 @@ "interferon-related developmental regulator 1" "obsolete_rhizomelic syndrome, Urbach type" "central corneal thickness" + "obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "tumor necrosis factor receptor superfamily member 21 measurement" "voltage-gated potassium channel subfamily G member 4" "diaphragmatic defect-limb deficiency-skull defect syndrome" - "obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "thyrocyte" "array platform variation design" "ACTL6A-related BAFopathy" @@ -45289,9 +45290,9 @@ "PROM1-related retinopathy" "obsolete_presumptive diencephalon" "paraphimosis" + "allergic urticaria" "Iridocyclitis" "female accessory gland" - "allergic urticaria" "autosomal recessive osteopetrosis" "Periostitis" "gliadin seropositivity" @@ -45391,9 +45392,9 @@ "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome" "microphthalmia, isolated, with cataract" "level of matrix metalloproteinase-20 in blood serum" + "obsolete_autosomal dominant keratitis" "breast milk measurement" "familial polycythemia" - "obsolete_autosomal dominant keratitis" "obsolete_X-linked myopathy with excessive autophagy" "COLO320DM" "BMI-adjusted hip circumference" @@ -45410,8 +45411,8 @@ "drinking behavior" "primary peritoneal carcinoma" "obsolete_Weissenbacher- Zweymuller syndrome" - "Increased erythrocyte protoporphyrin concentration" "scChIP-seq" + "Increased erythrocyte protoporphyrin concentration" "level of chondromodulin-1 in blood serum" "glossitis" "3-methylbenzyl alcohol" @@ -45454,8 +45455,8 @@ "Rare female infertility due to an anomaly of ovarian function of genetic origin" "Nascent-Seq" "GBA carrier status" - "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" "axial hypoblast" + "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" "developmental and epileptic encephalopathy, 42" "carcinoembryonic antigen-related cell adhesion molecule 7" "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" @@ -45621,8 +45622,8 @@ "papillary epithelial neoplasm" "CHILD syndrome" "Giardia intestinalis" - "obsolete_myopathy with hexagonally cross-linked tubular arrays" "Thoracic scoliosis" + "obsolete_myopathy with hexagonally cross-linked tubular arrays" "rheumatic fever nodule" "protein FAM19A3 measurement" "acetate measurement" @@ -45654,9 +45655,9 @@ "Clonus" "Ascites" "obsolete_malonic aciduria" - "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "malignant teratoma of mediastinum" "level of histone deacetylase 2 in blood serum" + "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" "level of lysine-specific demethylase 4C in blood serum" "Avascular necrosis" "Ocular Melanoma with Extraocular Extension" @@ -45691,15 +45692,15 @@ "liver CD103-negative dendritic cell" "relaxation of vascular associated smooth muscle" "radiation unit" + "obsolete_Blount disease" "obsolete_partial duplication of the long arm of chromosome 6" "ubiquitin-conjugating enzyme E2 Q1" "level of slit homolog 1 protein in blood serum" - "obsolete_Blount disease" "transient neonatal diabetes mellitus" "obsolete_multiple endocrine neoplasia type 1" "obsolete_combined pancreatic lipase-colipase deficiency" - "maxillary neoplasm" "ANE syndrome" + "maxillary neoplasm" "xeroderma pigmentosum group E" "integrin alpha-L" "N6-carbamoylthreonyladenosine measurement" @@ -45767,8 +45768,8 @@ "maternal 14q32.2 hypermethylation syndrome" "CC531" "progesterone measurement" - "leucine-rich repeat-containing protein 3" "preaxial polydactyly of fingers" + "leucine-rich repeat-containing protein 3" "Tolosa-Hunt syndrome" "oculocutaneous albinism type 3" "lethal osteosclerotic bone dysplasia" @@ -45913,8 +45914,8 @@ "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" "nitrogen atom" - "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "Microtia - eye coloboma - imperforation of the nasolacrimal duct" + "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" "C-C motif chemokine 21 measurement" "trabecular meshwork" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" @@ -45963,9 +45964,9 @@ "Mendelian susceptibility to mycobacterial diseases" "obsolete_cochlea structure" "inflammatory bowel disease 25" + "obsolete_congenital vitreoretinal dysplasia" "scrotum basal cell carcinoma" "level of centriole and centriolar satellite protein OFD1 in blood" - "obsolete_congenital vitreoretinal dysplasia" "guanine nucleotide-binding protein G(k) subunit alpha measurement" "Be2 cell" "BEST1-related recessive retinopathy" @@ -45973,15 +45974,15 @@ "tumor necrosis factor receptor superfamily member 25 measurement" "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "salt treatment" - "R-6-hydroxywarfarin measurement" "hereditary intrinsic factor deficiency" "X inactivation, familial skewed" + "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" "PBRM1-related BAFopathy" "phosphatidylcholine O-38:0" "level of PAX-interacting protein 1 in blood serum" - "level of epidermal growth factor receptor kinase substrate 8-like protein 2 in blood" "thyroglobulin measurement" + "level of epidermal growth factor receptor kinase substrate 8-like protein 2 in blood" "chromosome 16p12.2-p11.2 deletion syndrome" "mucosa of oral region" "MCAS" @@ -46051,8 +46052,8 @@ "breast size" "testis size"@en "Testicular atrophy" - "level of DNA-binding protein SATB2 in blood serum" "obsolete_autosomal dominant prognathism" + "level of DNA-binding protein SATB2 in blood serum" "epithelium of nasopharynx" "hypersensitivity" "level of NHL repeat-containing protein 2 in blood serum" @@ -46086,8 +46087,8 @@ "obsolete_acute intermittent porphyria" "choroidal melanoma" "obsolete_X-linked intellectual disability, Golabi-Ito-hall type" - "Milroy disease" "amelia of lower limb, unilateral" + "Milroy disease" "intestinal-type alkaline phosphatase measurement" "small artery occlusion" "zeaxanthin measurement" @@ -46117,11 +46118,11 @@ "procollagen C-endopeptidase enhancer 2 measurement" "Genetic chronic primary adrenal insufficiency" "osteoarthritis susceptibility 2" - "NCI-H2081" "obsolete_mandibuloacral dysplasia with type B lipodystrophy" - "N-acetylleucine measurement" + "NCI-H2081" "nucleated reticulocyte" "familial amyloid neuropathy" + "N-acetylleucine measurement" "Mycobacterium avium" "secretoglobin family 1C member 1 measurement" "carmoxirole hydrochloride" @@ -46202,8 +46203,8 @@ "obsolete brain calcification, Rajab type" "Ophthalmoplegia - intellectual disability - lingua scrotalis" "N-myc-interactor" - "protocadherin alpha-4" "GM15221" + "protocadherin alpha-4" "BRCA2 mutation carier statu" "PP interval" "Genetic pancreatic disease" @@ -46291,10 +46292,10 @@ "complement component 1 q subcomponent-binding protein, mitochondrial measurement" "level of dedicator of cytokinesis protein 2 in blood serum" "serine dehydratase-like" - "glycogen storage disease VIII" "periprosthetic osteolysis" "demyelinating hereditary motor and sensory neuropathy" "mucopolysaccharidosis type 3C" + "glycogen storage disease VIII" "brachydactyly type E1" "X-linked intellectual disability-retinitis pigmentosa syndrome" "obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2M" @@ -46358,8 +46359,8 @@ "obsolete_rapadilino syndrome" "level of versican core protein in blood serum" "amino acid" - "Rhinitis, Allergic, Perennial" "Thoracolumbar scoliosis" + "Rhinitis, Allergic, Perennial" "protein FAM19A4 measurement" "Streptomyces tanashiensis" "3-hydroxybutyric acid measurement" @@ -46394,9 +46395,9 @@ "Numb-like protein" "integrin alpha-M" "prenatal-onset spinal muscular atrophy with congenital bone fractures" + "ankle injury" "obsolete_RCH-ACV" "level of bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 in blood serum" - "ankle injury" "Ocular Sebaceous Carcinoma" "galactonate measurement" "eukaryotic-type small ribosomal subunit protein uS7" @@ -46446,16 +46447,16 @@ "ADP-ribose pyrophosphatase, mitochondrial" "obsolete_primary hyperoxaluria type 3" "Disorder of amino acid and other organic acid metabolism" - "level of aldehyde dehydrogenase, dimeric NADP-preferring in blood serum" "age at voice drop" + "level of aldehyde dehydrogenase, dimeric NADP-preferring in blood serum" "dental pulp disease" "hypogonadotropic hypogonadism" "ovarian melanoma" "corticoliberin" "Genetic photodermatosis" "heat shock cognate 71 kda protein measurement" - "Clinodactyly of the 5th finger" "level of Phosphatidylcholine (18:1_18:1) in blood serum" + "Clinodactyly of the 5th finger" "qualitative or quantitative defects of alpha-sarcoglycan" "level of 72 kDa type IV collagenase in blood serum" "obsolete_malignant migrating partial seizures of infancy" @@ -46487,16 +46488,16 @@ "succinate dehydrogenase assembly factor 4, mitochondrial" "Cerebellar hypoplasia" "Abnormal thorax morphology" + "adrenal cortex carcinoma" "molybdopterin synthase catalytic subunit" "level of tectonic-2 in blood serum" "Populus tremula" - "adrenal cortex carcinoma" "Accessory ectopic thyroid tissue" "spinal meningioma" "obsolete_cerebellum" "urethral urothelial papilloma" - "blastula 128-cell" "obsolete_Coppock-like cataract" + "blastula 128-cell" "quinidine barbiturate measurement" "SNU-668" "CFT-2" @@ -46533,12 +46534,12 @@ "Candidiasis, Invasive" "level of glycoprotein endo-alpha-1,2-mannosidase in blood serum" "mitochondrial DNA depletion syndrome" + "obsolete_congenital absence of thigh and lower leg with foot present, unilateral" "STA-ET-1" "smallpox" "MO3.13" "level of fibulin-5 in blood serum" "COPII-coated ER to Golgi transport vesicle" - "obsolete_congenital absence of thigh and lower leg with foot present, unilateral" "estradiol 17-beta-dehydrogenase 1 measurement" "dentin dysplasia type I" "malacoplakia" @@ -46661,12 +46662,12 @@ "obsolete_caecum" "obsolete_ex vivo design" "Appendix Neuroendocrine Tumor G1" - "ovarian follicle stage I" "Hyaluronidase deficiency" + "ovarian follicle stage I" "obsolete_alpha-mannosidosis, infantile form" + "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "fallopian tube cystadenofibroma" "KIF5" - "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "response to immunosuppressant" "selenoprotein S" "32D" @@ -46750,8 +46751,8 @@ "Limited shoulder movement" "Accommodative esotropia" "timepoint" - "Postnatal growth retardation" "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" + "Postnatal growth retardation" "intellectual developmental disorder, autosomal dominant 70" "inositol-tetrakisphosphate 1-kinase" "indole-3-butyric acid" @@ -46897,8 +46898,8 @@ "HL-1" "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" "level of dual specificity tyrosine-phosphorylation-regulated kinase 1A in blood serum" - "sphingosine" "matrix metalloproteinase-9 measurement" + "sphingosine" "obsolete_mild hemophilia A" "Greater Middle Eastern (Middle Eastern or North African or Persian)"@en "mitochondrial myopathy with diabetes" @@ -46963,14 +46964,14 @@ "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "thyroid hormone receptor-associated protein 3" "complement component C6 measurement" + "Pierre Robin syndrome associated with collagen disease" + "60S ribosomal protein L30 measurement" "X-14189--leucylalanine measurement" "14-3-3 protein sigma measurement" "age-related hearing impairment" - "Pierre Robin syndrome associated with collagen disease" - "60S ribosomal protein L30 measurement" + "TNF receptor-associated factor 3" "cleft lip/palate-ectodermal dysplasia syndrome" "chronic renal failure syndrome" - "TNF receptor-associated factor 3" "total lipids in medium HDL measurement " "a disintegrin and metalloproteinase with thrombospondin motifs 16" "ciliary body" @@ -46990,11 +46991,11 @@ "Sarcosine measurement" "congenital enterovirus infection" "methemoglobinemia" - "obsolete_citrullinemia type I" "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" "luminal B breast carcinoma" + "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" @@ -47012,8 +47013,8 @@ "beta-defensin 107" "Rare hyperthyroidism" "ecto-ADP-ribosyltransferase 3 measurement" - "rhizome" "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" + "rhizome" "trypanosomiasis" "ethanolamine kinase 1 measurement" "Hydrocephaly - tall stature - joint laxity" @@ -47063,8 +47064,8 @@ "familial hypocalciuric hypercalcemia 2" "breasts and/or nipples, aplasia or hypoplasia of, 2" "atypical kinase COQ8B, mitochondrial" - "level of histone deacetylase 6 in blood serum" "CS57583" + "level of histone deacetylase 6 in blood serum" "level of josephin-1 in blood serum" "protein FAM177A1 measurement" "alpha-beta T cell" @@ -47141,8 +47142,8 @@ "level of disabled homolog 2 in blood" "pancreactic component" "eye colour measurement" - "interleukin-27 receptor subunit alpha measurement" "level of proenkephalin-B in blood serum" + "interleukin-27 receptor subunit alpha measurement" "Axial hypotonia" "level of nuclear receptor ROR-beta in blood serum" "level of succinate-semialdehyde dehydrogenase, mitochondrial in blood serum" @@ -47168,8 +47169,8 @@ "tyrosine-protein kinase FER measurement" "level of glycodelin in blood serum" "Hs 940.T" - "obsolete_qualitative or quantitative defects of myotilin" "level of protein NDNF in blood serum" + "obsolete_qualitative or quantitative defects of myotilin" "cutis laxa, autosomal dominant 1" "LP.05 five leaves visible stage" "malonic acid" @@ -47180,8 +47181,8 @@ "zinc transporter 5 measurement" "obsolete_postaxial polydactyly type A, bilateral" "pneumococcal meningitis" - "arabitol measurement" "alliin" + "arabitol measurement" "N-lysine methyltransferase SMYD2" "organization role" "meteorin-like protein" @@ -47220,8 +47221,8 @@ "control" "obsolete_Disorder of mitochondrial fatty acid oxidation" "de Sanctis-Cacchione syndrome" - "obsolete_oculoauriculovertebral spectrum with radial defects" "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" + "obsolete_oculoauriculovertebral spectrum with radial defects" "Herpes simplex infection" "Odontogenic Cyst" "Epidermolysis bullosa simplex with muscular dystrophy" @@ -47311,11 +47312,11 @@ "neurogenic locus notch homolog protein 3 measurement" "familial dysfibrinogenemia" "1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine" + "fourth ventricle volume measurement"@en "level of signal transducer and activator of transcription 2 in blood" "material supplier" "Trichophyton soudanense" "defensin alpha 5 (human)" - "fourth ventricle volume measurement"@en "perivascular space" "brain" "Capz-interacting protein" @@ -47431,8 +47432,8 @@ "epibranchial placode" "solitary fibrous tumor" "Oncorhynchus nerka" - "OPA1-related optic atrophy with or without extraocular features" "trans fatty acid measurement" + "OPA1-related optic atrophy with or without extraocular features" "obsolete_palmoplantar keratoderma, Nagashima type" "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "obsolete_mild hyperphenylalaninemia" @@ -47548,12 +47549,12 @@ "U3 small nucleolar RNA-associated protein 6" "activated RNA polymerase II transcriptional coactivator p15" "obsolete_benign childhood occipital epilepsy, Gastaut type" + "obsolete_14q12 microdeletion syndrome" "S-7-hydroxywarfarin measurement" "central hypoventilation syndrome, congenital" "huntingtin-interacting protein 1-related protein" - "obsolete_14q12 microdeletion syndrome" - "E3 ubiquitin-protein ligase RNF13" "Shoulder and girdle defects - familial intellectual disability" + "E3 ubiquitin-protein ligase RNF13" "partial motor epilepsy" "obsolete_sex" "BEN domain-containing protein 6" @@ -47636,9 +47637,9 @@ "homoarginine" "MX-1" "tafenoquine" - "NUT midline carcinoma" "BLESS" "ophthalmic herpes zoster" + "NUT midline carcinoma" "t-tau measurement" "neuronal calcium sensor 1" "beta-defensin 129" @@ -47660,8 +47661,8 @@ "level of large ribosomal subunit protein mL46 in blood" "signaling lymphocytic activation molecule measurement" "obsolete aleukemic mast cell leukemia" - "Cyclamen persicum" "transcription elongation factor A protein 2" + "Cyclamen persicum" "COLO704" "acesulfame" "glucuronide of piperine metabolite C17H21NO3 (4) measurement" @@ -47804,10 +47805,10 @@ "Anti-measles virus IgG measurement" "Spindle Cell Melanoma" "intestinal neoplasm" - "Uveitis" "obsolete_mosaic trisomy 7" - "level of E3 ubiquitin-protein ligase RNF31 in blood" + "Uveitis" "b melanoma antigen 3 measurement" + "level of E3 ubiquitin-protein ligase RNF31 in blood" "gp41 C34 peptide, HIV measurement" "level of uncharacterized protein C9orf40 in blood" "ubiquitin thioesterase OTU1" @@ -47869,8 +47870,8 @@ "retinal capillary malformation" "sphingosine kinase 2 measurement" "Cenani-Lenz syndrome" - "carcinoembryonic antigen-related cell adhesion molecule 3" "POEMS syndrome" + "carcinoembryonic antigen-related cell adhesion molecule 3" "level of 39S ribosomal protein L33, mitochondrial in blood serum" "autosomal dominant sideroblastic anemia" "alanine--tRNA ligase, cytoplasmic" @@ -47989,9 +47990,9 @@ "Aba-seq" "neuroligin-4, x-linked measurement" "immunodeficiency 36" - "Metaphyseal chondrodysplasia, Schmid type" "Cannabis use initiation" "Abnormal anterior eye segment morphology" + "Metaphyseal chondrodysplasia, Schmid type" "N-alpha-acetyltransferase 20" "ubiquitin-conjugating enzyme E2 S" "level of calcium-binding protein 2 in blood" @@ -48049,8 +48050,8 @@ "cerebral arteritis" "obsolete oculocutaneous or ocular albinism" "CHO-AA8 " - "ovarian malignant mesothelioma" "syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome" + "ovarian malignant mesothelioma" "mating type a" "borna disease" "prolargin" @@ -48067,10 +48068,10 @@ "level of erbin in blood" "obsolete_acute neonatal citrullinemia type I" "X-linked intellectual disability, Cilliers type" - "platelet factor 4 variant measurement" "UMR-106" "saline" "phosphatidylethanolamine" + "platelet factor 4 variant measurement" "level of seizure 6-like protein in blood serum" "inosine" "multicellular organismal process" @@ -48172,10 +48173,10 @@ "Ngari virus" "Dwarfism - intellectual disability - eye abnormality" "WD repeat-containing protein 1 measurement" + "obsolete_brachydactyly type C" "combined immunodeficiency due to STK4 deficiency" "level of transcriptional activator protein Pur-beta in blood serum" "Atrophy" - "obsolete_brachydactyly type C" "central nervous system disease" "palladin" "level of charged multivesicular body protein 1a in blood serum" @@ -48225,8 +48226,8 @@ "hyalurononglucosaminidase activity" "level of coagulation factor XIII B chain in blood" "response to cyclosporine" - "parathion measurement"@en "dysuria" + "parathion measurement"@en "pulse wave reflection index measurement" "obsolete_Aase-Smith syndrome" "level of Triacylglycerol (49:2) in blood serum" @@ -48311,16 +48312,16 @@ "X-24334 measurement" "cingulin" "obsolete_preopercle" - "(S)-3-hydroxybutyrylcarnitine measurement" "cerebral cavernous malformation 1" + "(S)-3-hydroxybutyrylcarnitine measurement" "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform" "N2" "mosaic trisomy 21" "juvenile idiopathic scoliosis" "integral membrane protein 2A" - "Pt45P1" "parathyroid hormone" "zinc finger CCHC domain-containing protein 17" + "Pt45P1" "lipoid nephrosis" "OV56" "Uk-3" @@ -48369,6 +48370,7 @@ "embryonal neoplasm" "level of tetratricopeptide repeat protein 9B in blood serum" "uric acid measurement" + "potassium chromate measurement"@en "meningeal sarcoma" "major vestibular gland" "combined oxidative phosphorylation deficiency 46" @@ -48376,7 +48378,6 @@ "substantia propria of cornea" "level of fatty acid-binding protein, intestinal in blood" "radiologic finding" - "potassium chromate measurement"@en "pigment epithelium-derived factor measurement" "limbic lobe volume measurement"@en "radio-ulnar synostosis, unilateral" @@ -48465,8 +48466,8 @@ "protein kinase c gamma type measurement" "level of N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D in blood serum" "exudative vitreoretinopathy 2, X-linked" - "obsolete_lathosterolosis" "oral submucous fibrosis" + "obsolete_lathosterolosis" "Holzgreve-Wagner-Rehder syndrome" "obsolete_SHORT syndrome" "Charcot-Marie-Tooth disease type 4G" @@ -48507,8 +48508,8 @@ "Splenic Diffuse Large B-Cell Lymphoma" "hatching gland" "Ovarian Sex Cord Tumor with Annular Tubules" - "carotene diol (1) measurement" "level of ribosyldihydronicotinamide dehydrogenase [quinone] in blood serum" + "carotene diol (1) measurement" "obsolete_adult muscle precursor primordium" "methanol" "CD71-low, GlyA-positive polychromatic erythroblast" @@ -48566,8 +48567,8 @@ "bacterial gastritis" "complement factor D measurement" "macrovascular complications of diabetes"@en - "urogenital neoplasm" "asparagine measurement" + "urogenital neoplasm" "response to isoquinoline alkaloid" "X-14208--phenylalanylserine measurement" "level of DnaJ homolog subfamily C member 5B in blood serum" @@ -48648,12 +48649,12 @@ "Anti-hepatitis B virus surface antigen IgG measurement" "EnIGMA" "HG03175" + "obsolete_PMM2-CDG" "High pulse pressure" "revision of total hip arthroplasty"@en "immune organ" "inflammatory disease, non-human animal" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" - "obsolete_PMM2-CDG" "adenosine diphosphate measurement"@en "ring stage trophozoite" "neprilysin" @@ -48674,8 +48675,8 @@ "precentral gyrus" "level of aquaporin-4 in blood serum" "vitamin A measurement" - "obsolete_partial duplication of the short arm of chromosome X" "level of cytochrome b-c1 complex subunit 7 in blood serum" + "obsolete_partial duplication of the short arm of chromosome X" "fenasulam measurement" "extraosseous osteosarcoma" "disease staging" @@ -48711,8 +48712,8 @@ "ACTH-independent Cushing syndrome" "CS57758" "Lethargy" - "obsolete_familial idiopathic steroid-resistant nephrotic syndrome" "meningoencephalitis" + "obsolete_familial idiopathic steroid-resistant nephrotic syndrome" "Hermansky-Pudlak syndrome type 8" "neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures" "colonic mucosa" @@ -48780,12 +48781,12 @@ "small intestine cancer" "Partial trisomy of the short arm of chromosome 9" "inherited deficiency anemia" - "Ileal Neuroendocrine Tumor G1" "LP.17 seventeen leaves visible stage" - "NOR"@en + "Ileal Neuroendocrine Tumor G1" "X-linked intellectual disability, van Esch type" "CD69-positive, CD4-positive single-positive thymocyte" "Pantoea agglomerans" + "NOR"@en "tempol" "septin-10 measurement" "taurodontia-absent teeth-sparse hair syndrome" @@ -48820,9 +48821,9 @@ "vaginal leiomyoma" "T wave duration"@en "Abnormal upper motor neuron morphology" - "Optic neuropathy" "Hypergonadotropic hypogonadism" "E3 SUMO-protein ligase PIAS3" + "Optic neuropathy" "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" "obsolete_craniorachischisis" "butyrylcholinesterase deficiency" @@ -48832,8 +48833,8 @@ "level of DNA replication licensing factor MCM6 in blood serum" "array control reporter size" "dyskinesia with orofacial involvement" - "Bartholin Gland Carcinoma" "age of onset of glaucoma" + "Bartholin Gland Carcinoma" "hydrolethalus syndrome" "vagina sarcoma" "lymphomyeloid tissue" @@ -48931,11 +48932,11 @@ "obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis" "nephron" "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" + "pituitary apoplexy" "retinal ischemia" "periostin measurement" - "pituitary apoplexy" - "trophoblast" "proline measurement" + "trophoblast" "level of cadherin-related family member 2 in blood" "spinal muscular atrophy, type 1" "chordin-like protein 2 measurement" @@ -48970,17 +48971,17 @@ "level of pyridoxal phosphate homeostasis protein PLPBP in blood" "tumor necrosis factor receptor superfamily member 6B measurement" "Fusarium subglutinans" - "10-nonadecenoate" "60S ribosome subunit biogenesis protein NIP7" + "10-nonadecenoate" "combined oxidative phosphorylation deficiency 36" "DNase Hi-C" "brain stem astrocytic neoplasm" "hypomyelinating leukodystrophy 2" "pentachlorophenol measurement"@en "level of coagulation factor VII in blood" - "spinal fracture" - "level of brain protein 44-like protein in blood serum" "whole body water mass" + "level of brain protein 44-like protein in blood serum" + "spinal fracture" "hereditary spastic paraplegia 77" "triacylglycerol 60:12 measurement"@en "urogenital tuberculosis" @@ -49013,9 +49014,9 @@ "lissencephaly 4" "erlin-1 measurement" "LN-18" + "COMM domain-containing protein 10" "level of UDP-N-acetylhexosamine pyrophosphorylase in blood serum" "soleus muscle" - "COMM domain-containing protein 10" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C" "LIM domain-containing protein 2" "level of dickkopf-related protein 1 in blood" @@ -49106,8 +49107,8 @@ "obsolete_familial vesicoureteral reflux" "malignant T cell-amplified sequence 1" "janus kinase and microtubule-interacting protein 3 measurement" - "mucopolysaccharide metabolic process" "histiocytic medullary reticulosis" + "mucopolysaccharide metabolic process" "X-linked Charcot-Marie-Tooth disease" "Basaloid Carcinoma" "PARE-Seq" @@ -49134,10 +49135,10 @@ "level of lysine-specific histone demethylase 1A in blood serum" "matrix metalloproteinase-19" "Pulmonary hypoplasia" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "tick paralysis" "Abnormal thymus morphology" "lipopolysaccharide" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "monocarboxylate transporter 4" "left inferior lateral ventricle volume measurement" "freshwater sediment metagenome" @@ -49149,9 +49150,9 @@ "versican core protein" "obsolete_Buschke-Ollendorff syndrome" "level of protein ripply1 in blood serum" + "10-nonadecenoate 19:1n9 measurement" "Kit-positive, CD34-positive common myeloid progenitor" "level of ZW10 interactor in blood serum" - "10-nonadecenoate 19:1n9 measurement" "mating type" "benign neoplasm of cerebellum" "arachidonoylcholine measurement" @@ -49195,8 +49196,8 @@ "Solanum chacoense" "negative regulation of platelet aggregation" "small cell osteogenic sarcoma" - "iPS-11c" "malabsorption syndrome" + "iPS-11c" "pharyngeal arch" "radial hemimelia" "nipple" @@ -49251,8 +49252,8 @@ "Trifolium repens" "scrotum" "bladder clear cell adenocarcinoma" - "inherited susceptibility to asthma" "autosomal dominant intermediate Charcot-Marie-Tooth disease type G" + "inherited susceptibility to asthma" "Splenic Hodgkin Lymphoma" "level of cadherin EGF LAG seven-pass G-type receptor 2 in blood" "level of replication protein A 32 kDa subunit in blood" @@ -49388,9 +49389,9 @@ "level of DNA topoisomerase 2-beta in blood" "oculomotor nerve neoplasm" "GM17226" - "ASAH1-related sphingolipidosis" - "obsolete_vagal placode 1" "Anti-hepatitis B virus core antigen IgG measurement" + "obsolete_vagal placode 1" + "ASAH1-related sphingolipidosis" "level of keratin, type II cytoskeletal 71 in blood serum" "HG03196" "obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis" @@ -49461,8 +49462,8 @@ "nuclear factor NF-kappa-B p100 subunit" "primary lipodystrophy" "fungal gastritis" - "chemotherapy-induced cytotoxicity measurement"@en "amikacin" + "chemotherapy-induced cytotoxicity measurement"@en "obsolete_genitourinary system" "glycine measurement" "level of centrosomal protein 20 in blood serum" @@ -49520,10 +49521,10 @@ "chromosome transmission fidelity protein 8 homolog" "level of UV excision repair protein RAD23 homolog A in blood serum" "neurodegeneration, childhood-onset, with progressive microcephaly" - "transcription elongation factor A protein-like 8" "obsolete_coloboma of iris" - "Abnormality of the breast" + "transcription elongation factor A protein-like 8" "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" + "Abnormality of the breast" "amyloidoma" "MICOS complex subunit MIC10" "Motor tics" @@ -49610,8 +49611,8 @@ "nasopharyngeal diphtheria" "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" "obsolete_partial monosomy of the long arm of chromosome 9" - "glycogen storage disorder due to hepatic glycogen synthase deficiency" "rectal adenosquamous carcinoma" + "glycogen storage disorder due to hepatic glycogen synthase deficiency" "haloacid dehalogenase-like hydrolase domain-containing protein 2" "granzyme K measurement" "X-24455 measurement" @@ -49646,9 +49647,9 @@ "neurological pain disorder" "level of adenosine kinase in blood serum" "C1q-related factor" - "obsolete_autosomal recessive bestrophinopathy" "4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside measurement" "nasal cavity olfactory neuroblastoma" + "obsolete_autosomal recessive bestrophinopathy" "Leymus cinereus" "level of Fos-related antigen 2 in blood serum" "elongin-B" @@ -49735,8 +49736,8 @@ "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform" - "HIB-1B" "susceptibility to mumps measurement" + "HIB-1B" "GRB2-associated-binding protein 1" "alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A" "platelet-derived growth factor receptor-like protein measurement" @@ -49767,8 +49768,8 @@ "bifid uvula" "chromogranin-A measurement" "X-linked intellectual disability with hypopituitarism" - "malignant hypertensive renal disease" "C-type lectin domain family 5 member A" + "malignant hypertensive renal disease" "3-(imidazol-5-yl)lactic acid" "obsolete complex chromosomal rearrangement" "Arthrogryposis - hyperkeratosis, lethal form" @@ -49818,11 +49819,11 @@ "level of uncharacterized protein C2orf73 in blood serum" "Cis-5,8,11,14,17-eicosapentaenoic acid (C20:5n3) to LysoPC 20:2 ratio" "level of ATP-dependent RNA helicase DDX25 in blood serum" - "obsolete_X-linked pure spastic paraplegia" "glutamate carboxypeptidase 2 measurement" "iPS-11b" "combined oxidative phosphorylation defect type 4" "corticobasal syndrome" + "obsolete_X-linked pure spastic paraplegia" "obsolete bulbospinal muscular atrophy of adulthood" "HIV-associated cancer" "Dejerine-Sottas syndrome" @@ -49848,9 +49849,9 @@ "Madelung deformity, unilateral" "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" "cancer-associated retinopathy" - "Developmental malformations - deafness - dystonia" "level of protransforming growth factor alpha in blood" "skeletal dysplasia and progressive central nervous system degeneration, lethal" + "Developmental malformations - deafness - dystonia" "liver sarcoma" "keratin, type I cytoskeletal 17 measurement" "N-icosanoylsphingosine-1-phosphocholine" @@ -50057,8 +50058,8 @@ "HUES9" "bed nucleus of stria terminalis" "ceramide-1-phosphate transfer protein" - "Reduced number of intrahepatic bile ducts" "femoral cancer" + "Reduced number of intrahepatic bile ducts" "movement disorder" "amiloride-sensitive amine oxidase [copper-containing]" "obsolete_congenital hydrocephalus" @@ -50080,8 +50081,8 @@ "level of mediator of RNA polymerase II transcription subunit 10 in blood serum" "severe combined immunodeficiency due to IKK2 deficiency" "obsolete_immunoglobulin-mediated membranoproliferative glomerulonephritis" - "peroxisome biogenesis disorder due to PEX13 defect" "Mononegavirales infectious disease" + "peroxisome biogenesis disorder due to PEX13 defect" "membrane cofactor protein" "level of serpin H1 in blood serum" "5-fluorouracil" @@ -50171,13 +50172,13 @@ "obsolete_congenital muscular dystrophy with hyperlaxity" "epibranchial 5" "DNA repair protein XRCC1 measurement" - "level of EMI domain-containing protein 1 in blood serum" "subcutaneous adipose tissue" + "level of EMI domain-containing protein 1 in blood serum" "Tn5 B1-4" "obsolete_joint formation defects" "obsolete_pentasomy X" - "obsolete_terminal nerve" "myopathy caused by variation in FKRP" + "obsolete_terminal nerve" "fibroma" "obsolete_congenital factor XII deficiency" "obsolete_prostate specific antigen measurement" @@ -50237,11 +50238,11 @@ "serine protease inhibitor Kazal-type 6 measurement" "obsolete_genetic central nervous system and retinal vascular disease" "receptor-type tyrosine-protein phosphatase S measurement" + "X-12410 measurement" "N-gondoylethanolamine" "5q35 microduplication syndrome" "glutathione S-transferase theta-1" "amino acid transporter heavy chain SLC3A1" - "X-12410 measurement" "neutrophil percentage of granulocytes" "Robinow syndrome" "posterior cerebral artery infarction" @@ -50374,10 +50375,10 @@ "Bockenheimer syndrome" "obsolete_primary renal tubular acidosis" "TELO2-related intellectual disability-neurodevelopmental disorder" + "peer review quality control role" "epilepsy, progressive myoclonic, 12" "level of thymosin beta-10 in blood" "level of calretinin in blood" - "peer review quality control role" "amnestic disorder" "inferior parietal cortex volume measurement"@en "technology type" @@ -50419,11 +50420,11 @@ "HSD10 mitochondrial disease" "congenital mesoblastic nephroma" "paroxysmal dyskinesia" - "susceptibility to hepatitis B infection measurement" "Jalili syndrome" "South Asian" - "obsolete rare odontal or periodontal disorder" + "susceptibility to hepatitis B infection measurement" "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" + "obsolete rare odontal or periodontal disorder" "CD69-positive, CD8-positive single-positive thymocyte" "129S/Sv"@en "ROS-17/2.8" @@ -50432,12 +50433,12 @@ "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "CS57873" "level of IGF-like family receptor 1 in blood serum" + "obsolete_myoclonic epilepsy of infancy" "obsolete_phakomatosis pigmentokeratotica" "collectrin measurement" - "obsolete_myoclonic epilepsy of infancy" + "obsolete_mucopolysaccharidosis type 4" "obsolete_orofacial cleft" "Goodpasture syndrome" - "obsolete_mucopolysaccharidosis type 4" "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" "variegate porphyria, childhood-onset" "protein unc-79 homolog" @@ -50452,6 +50453,7 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" + "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" "dickkopf-like protein 1 measurement" "X-11315-to-pyroglutamine ratio" "cadaver dissection" @@ -50462,7 +50464,6 @@ "follicle cell of egg chamber" "autosomal dominant intermediate Charcot-Marie-Tooth disease" "level of Triacylglycerol (53:3) in blood serum" - "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" "level of required for drug-induced death protein 1 in blood serum" "Lactobacillus reuteri 100-23" "choline" @@ -50474,8 +50475,8 @@ "X-12125 measurement" "calmegin" "sphingomyelin 18:1 measurement"@en - "Lethal congenital contracture syndrome type 1" "GM17105" + "Lethal congenital contracture syndrome type 1" "matrix metalloproteinase–degraded type I collagen measurement"@en "acinar cell" "cocaine dependence" @@ -50577,10 +50578,10 @@ "paxillin" "obsolete_achromatopsia" "Hyperlordosis" + "obsolete_partial deletion of the short arm of chromosome 7" "bone morphogenetic protein 2" "GM17174" "level of VPS10 domain-containing receptor SorCS1 in blood serum" - "obsolete_partial deletion of the short arm of chromosome 7" "obsolete_brachydactyly type E" "obsolete_van der Woude syndrome" "social behavior" @@ -50620,8 +50621,8 @@ "GM17841" "PacBio Sequel II system" "HG03469" - "JM1" "ectonucleoside triphosphate diphosphohydrolase 5 measurement" + "JM1" "diabetic retinopathy" "cell death regulator Aven" "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" @@ -50634,8 +50635,8 @@ "Mitochondrial oxidative phosphorylation disorder with no known mechanism" "coiled-coil and C2 domain-containing protein 1A" "cervicothoracic spina bifida cystica" - "pre-mRNA-splicing regulator WTAP" "B-cell non-Hodgkins lymphoma" + "pre-mRNA-splicing regulator WTAP" "Baraitser-Winter syndrome 1" "progressive familial intrahepatic cholestasis" "TPM2-related myopathy" @@ -50669,11 +50670,11 @@ "level of contactin-6 in blood serum" "tumor of parathyroid gland" "Disorder of pyrimidine metabolism" - "beta-defensin 128 measurement" "wild type genotype" "differentially expressed in FDCP 6" "dorsal" "BRB-seq" + "beta-defensin 128 measurement" "hereditary ataxia" "biliary tract cancer" "obsolete_proximal portion of circumflex branch of left coronary artery" @@ -50703,16 +50704,16 @@ "obsolete generalized bulbospinal muscular atrophy" "trafficking protein particle complex subunit 6A" "obsolete_sphingolipidosis" - "obsolete_isolated anterior cervical hypertrichosis" "homeobox protein Hox-D4" + "obsolete_isolated anterior cervical hypertrichosis" "femoral neck bone mineral density" "alveolar rhabdomyosarcoma" "glutathione hydrolase 1 proenzyme" "dehydrogenase/reductase SDR family member 9" "vesicle-associated membrane protein-associated protein B/C" "Episodic ataxia with slurred speech" - "obsolete_trisomy 12p" "response to dietary selenium supplementation" + "obsolete_trisomy 12p" "Papillon-Lefèvre syndrome" "level of receptor-type tyrosine-protein phosphatase mu in blood" "paracentesis" @@ -50771,10 +50772,10 @@ "contactin-1 measurement" "obsolete_ductus deferens" "organ extraction" + "alcoholic pancreatitis" "obsolete_fat body primordium" "vitreoretinopathy with phalangeal epiphyseal dysplasia" "obsolete_vascular cord" - "alcoholic pancreatitis" "obsolete_gastroduodenal malformation" "gestational serum measurement" "ILSXISS80/TejJ" @@ -50855,9 +50856,9 @@ "level of transmembrane protease serine 5 in blood serum" "level of gamma-glutamyltranspeptidase 2 in blood serum" "obsolete_upper thoracic spina bifida cystica" + "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "Malignant Pancreatic Neoplasm" "dorsal apodeme specific anlage" - "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "zinc fingers and homeoboxes protein 1" "phosphatidylinositide phosphatase SAC2" "progenitor cell of endocrine pancreas" @@ -50891,8 +50892,8 @@ "nucleolysin TIAR" "germinomatous germ cell tumor" "Norrie disease" - "paranasal sinus neoplasm" "histidine measurement" + "paranasal sinus neoplasm" "Myc target protein 1" "X-14450--phenylalanylleucine measurement" "level of torsin-1A-interacting protein 2 in blood serum" @@ -50907,8 +50908,8 @@ "glottis squamous cell carcinoma" "bacteremia, susceptibility" "qualitative or quantitative defects of dystrophin" - "obsolete_Flynn-Aird syndrome" "COS-7" + "obsolete_Flynn-Aird syndrome" "viral meningitis" "myopathy caused by variation in FKTN" "level of ELAV-like protein 1 in blood serum" @@ -50981,8 +50982,8 @@ "hypertrophic cardiomyopathy 1" "genetic disorder" "Cryptosporidiosis - chronic cholangitis - liver disease" - "X-12411 measurement" "glutathione S-transferase theta-2" + "X-12411 measurement" "basophil percentage of granulocytes" "Ehlers-Danlos syndrome, fibronectinemic type" "triglycerides in HDL measurement " @@ -51040,9 +51041,9 @@ "collagen alpha-5(VI) chain measurement" "age of onset of glioblastoma" "Open mouth" - "obsolete_isolated ectopia lentis" "skeletal muscle cancer" "level of CD14 molecule in blood" + "obsolete_isolated ectopia lentis" "macrophage colony-stimulating factor 1 measurement" "obsolete_coronary stenosis" "platelet aggregation" @@ -51150,8 +51151,8 @@ "C->U-editing enzyme APOBEC-2" "prothrombin measurement" "microphthalmia, syndromic 2" - "obsolete_beta-thalassemia intermedia" "obsolete_familial hypoaldosteronism" + "obsolete_beta-thalassemia intermedia" "assay by sequencer" "Lactuca sativa" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2" @@ -51187,8 +51188,8 @@ "congenital sialidosis type 2" "obsolete_disorder of phenylalanine metabolism" "single cell Hi-C" - "dipeptidyl peptidase 1 measurement" "obsolete_Charcot-Marie-Tooth disease type 4J" + "dipeptidyl peptidase 1 measurement" "femoral agenesis/hypoplasia" "soft tissue disease" "glycogen storage disease due to acid maltase deficiency, late-onset" @@ -51225,14 +51226,14 @@ "N-acetylserine measurement" "membrane-bound transcription factor site-1 protease" "RAB6-interacting golgin" - "obsolete_infantile epileptic-dyskinetic encephalopathy" "cathepsin E measurement" "spermatogenic failure 66" - "diffuse lipomatosis" + "obsolete_infantile epileptic-dyskinetic encephalopathy" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" "reading and spelling ability" "vaginal yolk sac tumor" + "diffuse lipomatosis" "Shukla-Vernon syndrome" "obsolete_rectal carcinoma" "miTRAP" @@ -51273,11 +51274,11 @@ "jupiter microtubule associated homolog 1" "cerebellar degeneration" "bone morphogenetic protein 4" + "obsolete_brachydactyly type A1" + "secondary hypertrophic osteoarthropathy" "NudC domain-containing protein 2" "E3 ubiquitin-protein ligase RNF25" "Thin vermilion border" - "obsolete_brachydactyly type A1" - "secondary hypertrophic osteoarthropathy" "candidiasis, familial, 4" "late cornified envelope-like proline-rich protein 1" "level of anterior gradient protein 3 in blood" @@ -51304,8 +51305,8 @@ "Fc receptor-like protein 6 measurement" "izumo sperm-egg fusion protein 4" "obsolete_somite 13" - "CS57874" "Muscular hypertrophy - hepatomegaly - polyhydramnios" + "CS57874" "fucose mutarotase" "apelin" "ChEC-seq" @@ -51332,8 +51333,8 @@ "Malformation syndrome with skin/mucosae involvement" "obsolete_cap myopathy" "X-12126 measurement" - "TOX high mobility group box family member 3 measurement" "SJSA1" + "TOX high mobility group box family member 3 measurement" "eccrine sweat gland cancer" "natural killer cell" "Bethlem myopathy 1A" @@ -51387,9 +51388,9 @@ "GM17102" "hypercholesterolemia, autosomal dominant, 3" "piperine" - "obsolete_OSLAM syndrome" "obsolete_fin" "level of MHC class I polypeptide-related sequence B in blood" + "obsolete_OSLAM syndrome" "psychosis predisposition measurement" "oxcarbazepine-induced hyponatremia" "myo-inositol measurement" @@ -51401,8 +51402,8 @@ "cataract 12 multiple types" "vancomycin" "Disorder of serine or glycine metabolism" - "level of activating signal cointegrator 1 complex subunit 2 in blood serum" "beta-mannosidase measurement" + "level of activating signal cointegrator 1 complex subunit 2 in blood serum" "inner ear disease" "benign muscle neoplasm" "phencyclidine" @@ -51456,8 +51457,8 @@ "visceral adipose tissue measurement" "glottis neoplasm" "Hearing loss - familial salivary gland insensitivity to aldosterone" - "obsolete_hindgut anlage in statu nascendi" "butyrylglycine" + "obsolete_hindgut anlage in statu nascendi" "euricoyl sphingomyelin measurement" "Platichthys flesus" "allergic cutaneous vasculitis" @@ -51503,8 +51504,8 @@ "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" "peroxisome biogenesis disorder due to PEX16 defect" - "SCLC-22H" "Barrett adenocarcinoma" + "SCLC-22H" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" "glucosamine 6-phosphate N-acetyltransferase measurement" @@ -51529,11 +51530,11 @@ "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" + "Disorder of the gamma-glutamyl cycle" "obsolete_pyruvate carboxylase deficiency, infantile form" "level of transmembrane protease serine 6 in blood serum" "level of sodium/iodide cotransporter in blood serum" "lissencephaly due to TUBA1A mutation" - "Disorder of the gamma-glutamyl cycle" "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" "GM1 ganglioside measurement" "Burren ecotype" @@ -51629,8 +51630,8 @@ "benign PEComa" "paraneoplastic renal syndrome" "single cell library construction" - "CS57904" "obsolete_palpebral piliary tumor" + "CS57904" "trans-3-hydroxycotinine measurement"@en "age at onset" "benzylpenicillin" @@ -51664,10 +51665,10 @@ "Craniofacial dysplasia-osteopenia syndrome" "obsolete_opercular lateral line neuromast" "Nematoda" - "respiratory system venous blood vessel" "Leber congenital amaurosis 8" - "3-Indolepropionic acid to LysoPC 20:1 ratio" + "respiratory system venous blood vessel" "Rothmund-Thomson syndrome type 2" + "3-Indolepropionic acid to LysoPC 20:1 ratio" "kallikrein-11 measurement"@en "congenital absence of both forearm and hand" "Chronic diarrhea with hereditary sensory and autonomic neuropathy" @@ -51742,8 +51743,8 @@ "central nervous system extraskeletal osteosarcoma" "skin appendage disorder" "Oscheius myriophila" - "fatty acid-binding protein 5" "obsolete_hereditary motor and sensory neuropathy, Okinawa type" + "fatty acid-binding protein 5" "membrane-associated progesterone receptor component 2 measurement" "level of GTP-binding protein SAR1a in blood serum" "carbohydrate sulfotransferase 9 measurement" @@ -51824,10 +51825,10 @@ "nafadotride" "phosphatidylcholine O-36:2" "pooled clone sequencing" - "level of serglycin in blood serum" "obsolete_congenital pseudoarthrosis of clavicle" - "craniodiaphyseal dysplasia" + "level of serglycin in blood serum" "tyrosine-protein kinase lyn measurement" + "craniodiaphyseal dysplasia" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" "level of myosin-binding protein C, fast-type in blood" @@ -51843,14 +51844,14 @@ "polyploidy" "obsolete_inguinal region" "hypoplasminogenemia" + "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" "Intestinal Type Adenocarcinoma" + "obsolete_short rib-polydactyly syndrome" "NOR/LtJ"@en "Staphylococcus lentus" - "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" + "serine/arginine-rich splicing factor 7 measurement" "nectin-3" - "obsolete_short rib-polydactyly syndrome" "level of beta-1,3-galactosyltransferase 1 in blood serum" - "serine/arginine-rich splicing factor 7 measurement" "Joubert syndrome with oculorenal defect" "capillary malformation-arteriovenous malformation 1" "immunodeficiency due to CD25 deficiency" @@ -51889,11 +51890,11 @@ "454 GS 20 standard manufacturer's protocol" "level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood" "anti-human herpes virus 7 antibody measurement"@en - "typhasterol" - "sphingomyelin 22:1 measurement"@en "triacylglycerol 50:3 measurement"@en - "GM17107" + "sphingomyelin 22:1 measurement"@en + "typhasterol" "developing seed stage" + "GM17107" "early whole plant fruit ripening stage" "regulation of platelet activation" "obsolete_myometrium" @@ -51912,16 +51913,16 @@ "malignant neoplasm of endocervix" "3-Indolepropionic acid to Homovanillic acid ratio" "macrodactyly of fingers" + "fetal hypoxia" "level of nuclear protein MDM1 in blood serum" "autosomal dominant prognathism" "dilated cardiomyopathy 1HH" - "fetal hypoxia" "age of onset of systemic lupus erythematosus" "alcohol-related disorders" "qualitative or quantitative defects of tropomyosin" "level of protocadherin beta-10 in blood serum" - "Constitutional mismatch repair deficiency syndrome" "meiotic recombination protein DMC1/LIM15" + "Constitutional mismatch repair deficiency syndrome" "GIST-plus syndrome" "hereditary hyperferritinemia with congenital cataracts" "level of forkhead box protein M1 in blood serum" @@ -52068,9 +52069,9 @@ "salivary duct carcinoma" "neuronal growth regulator 1 measurement" "obsolete_T+ B+ severe combined immunodeficiency" + "single nucleus RNA sequencing" "autosomal recessive spinocerebellar ataxia 12" "heart valve prosthesis" - "single nucleus RNA sequencing" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -52209,8 +52210,8 @@ "SKMC" "probable RNA-binding protein 23" "giant axonal neuropathy 2" - "fenazaquin" "cholesteryl ester 14:0 measurement"@en + "fenazaquin" "proton-transporting ATP synthase complex" "obsolete_spondyloepimetaphyseal dysplasia, Bieganski type" "level of selenoprotein P in blood" @@ -52434,8 +52435,8 @@ "alpha-galactosidase activity" "long read sequencer" "FACS-seq" - "protein S100-A4 measurement" "dual specificity mitogen-activated protein kinase kinase 1 measurement" + "protein S100-A4 measurement" "lymphoid system" "nap during day, self-reported" "level of Sphingomyelin (d34:0) in blood serum" @@ -52515,8 +52516,8 @@ "(2R,3S)-EHNA hydrochloride" "albuminuria" "ENBREL" - "level of sclerostin domain-containing protein 1 in blood serum" "benign uterine ligament neoplasm" + "level of sclerostin domain-containing protein 1 in blood serum" "phenylalanine--tRNA ligase, mitochondrial measurement" "ECC-1" "Alpha-thalassemia - myelodysplastic syndrome" @@ -52542,17 +52543,17 @@ "obsolete_oculocerebrofacial syndrome, Kaufman type" "parkinsonism-dystonia, infantile" "Cucumis melo" - "Bladder Small Cell Neuroendocrine Carcinoma" "Deafness - epiphyseal dysplasia - short stature" + "Bladder Small Cell Neuroendocrine Carcinoma" "level of N-alpha-acetyltransferase 20 in blood serum" "isochromosome Y" "obsolete_humerus" "human HOXA1 syndromes" "Intimal Sarcoma" - "acromesomelic dysplasia 1, Maroteaux type" "Autosomal recessive spastic paraplegia type 72" - "biological pigment" + "acromesomelic dysplasia 1, Maroteaux type" "Genetic central nervous system malformation" + "biological pigment" "large artery stroke" "mediator of RNA polymerase II transcription subunit 18" "T-cell leukemia/lymphoma protein 1A" @@ -52574,8 +52575,8 @@ "Brugada syndrome 1" "developmental delay with autism spectrum disorder and gait instability" "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" - "blood-injection-injury phobia" "level of pleckstrin homology domain-containing family A member 3 in blood serum" + "blood-injection-injury phobia" "epithelial cell adhesion molecule measurement"@en "E3 ubiquitin-protein ligase SMURF2" "histone H2A type 1-A" @@ -52676,8 +52677,8 @@ "interleukin-1 family member 5" "ganglioglioma" "fetomaternal transfusion" - "level of protocadherin beta-2 in blood serum" "obsolete_T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" + "level of protocadherin beta-2 in blood serum" "acute myeloid leukemia, del(13q14-q21)" "dystrophin" "pineal region yolk sac tumor" @@ -52760,9 +52761,9 @@ "autoimmune uveitis" "keratitis fugax hereditaria" "obsolete_immunodeficiency predominantly affecting antibody production" - "OVCA429" "adult central nervous system choriocarcinoma" "level of regulator of microtubule dynamics protein 3 in blood serum" + "OVCA429" "acromegaloid facial appearance syndrome" "Haloferax volcanii" "NOR1/Lt"@en @@ -52781,11 +52782,11 @@ "Piscirickettsiaceae Infections" "Spinocerebellar ataxia - dysmorphism" "mucolipidosis type II" - "X-linked intellectual disability, Zorick type" "X-17325 measurement" "level of endoplasmic reticulum membrane sensor NFE2L1 in blood serum" - "Lactobacillus parabuchneri" + "X-linked intellectual disability, Zorick type" "lysophosphatidylcholine 18:2" + "Lactobacillus parabuchneri" "megalencephaly-polydactyly syndrome" "level of cullin-9 in blood serum" "level of E3 ubiquitin-protein ligase CBL in blood serum" @@ -52803,8 +52804,8 @@ "Neisseria gonorrhoeae F62" "level of ATP-dependent RNA helicase DDX39 in blood" "CD8-positive, alpha-beta T cell" - "Gossypium mustelinum" "phosphate-regulating neutral endopeptidase PHEX" + "Gossypium mustelinum" "level of junctional adhesion molecule A in blood" "riboflavin transporter deficiency" "spinocerebellar ataxia type 27" @@ -52854,8 +52855,8 @@ "roundabout homolog 2 measurement" "chorionic plate" "epidermolysis bullosa simplex 2C, localized" - "renal tubular acidosis" "Saccharum sp." + "renal tubular acidosis" "butyrophilin subfamily 2 member A1" "obsolete_melorheostosis with osteopoikilosis" "eyes absent homolog 2" @@ -52969,8 +52970,8 @@ "Panicum virgatum" "level of zinc finger CCHC domain-containing protein 17 in blood serum" "mesoderm development candidate 2" - "level of protein LEG1 homolog in blood" "small intestinal fibrosarcoma" + "level of protein LEG1 homolog in blood" "level of neurofilament light polypeptide in blood" "FlowSeq" "level of septin-7 in blood" @@ -53029,13 +53030,13 @@ "mature CD1a-positive dermal dendritic cell" "3-hydroxydodecanedioate measurement" "lysophosphatidylcholine 17:0 measurement" - "HG03558" "right" - "musculoskeletal system disease" + "HG03558" "obsolete_endocrine system component" + "musculoskeletal system disease" "GM17167" - "FU-OV-1" "X-linked diffuse leiomyomatosis-Alport syndrome" + "FU-OV-1" "Brevibacterium linens" "level of inactive serine protease 35 in blood serum" "Oystese ecotype" @@ -53146,10 +53147,10 @@ "Vestibular schwannoma" "growth factor receptor-bound protein 10" "hepatorenocardiac degenerative fibrosis" - "cerebellum" "obsolete_gelatinous drop-like corneal dystrophy" - "mucopolysaccharidosis type 6, slowly progressing" + "cerebellum" "obsolete_Rothmund-Thomson syndrome type 1" + "mucopolysaccharidosis type 6, slowly progressing" "indole ethanol (tryptophanol) measurement" "adenomatous colon polyp" "bronchiectasis" @@ -53159,8 +53160,8 @@ "rectum Kaposi sarcoma" "solute carrier family 35 member G2" "staphyloenterotoxemia" - "Enhancement of the C-reflex" "obsolete_prolidase deficiency" + "Enhancement of the C-reflex" "iPS DF 6.9" "SK-MEL-5" "Esophagitis" @@ -53248,10 +53249,10 @@ "level of specifically androgen-regulated gene protein in blood serum" "brain-lung-thyroid syndrome" "Geospiza difficilis" + "calcineurin B homologous protein 1 measurement" "alopecia, isolated" "steroid hormone" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum" - "calcineurin B homologous protein 1 measurement" "Abnormality of the digestive system" "obsolete_sepal" "mechanical dissociation" @@ -53269,12 +53270,12 @@ "R46" "1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement" "obsolete_familial atrial fibrillation" - "inosine diphosphate measurement" "insulin like growth factor measurement" "azelate (C9-DC) measurement" "C4b-binding protein alpha chain" "familial cold autoinflammatory syndrome 1" "hepatic porphyria" + "inosine diphosphate measurement" "obsolete_chondrodysplasia with joint dislocations, gPAPP type" "hypoxia" "obsolete_late-onset nephronophthisis" @@ -53306,9 +53307,9 @@ "stomatal complex" "U1 small nuclear ribonucleoprotein A measurement" "CS57908" - "X-21845 measurement" "apolipoprotein B receptor" "COV413A" + "X-21845 measurement" "pulmonary alveolar type 2 cell" "obsolete_acrocephalosyndactylia" "obsolete_endocardium" @@ -53422,8 +53423,8 @@ "Goodman syndrome" "Inguinal hernia" "obsolete_autosomal dominant congenital benign spinal muscular atrophy" - "obsolete_severe combined immunodeficiency due to CORO1A deficiency" "carbohydrate sulfotransferase 10" + "obsolete_severe combined immunodeficiency due to CORO1A deficiency" "(9R,13R)-12-oxophytodienoic acid" "Atresia of the external auditory canal" "rectal medullary carcinoma" @@ -53475,10 +53476,10 @@ "protein N-terminal glutamine amidohydrolase" "obsolete_complete cryptophthalmia" "thalamic cancer" - "HCN-1A"@en "taurolithocholate 3-sulfate measurement" "chromosome 16p11.2 duplication syndrome" "level of protein CutA in blood serum" + "HCN-1A"@en "level of E3 ubiquitin-protein ligase CBL-C in blood serum" "Retinal Neoplasm" "acute myeloid leukemia, t(9;22)(q34.1;q11.2)" @@ -53515,8 +53516,8 @@ "obsolete_infantile onset spinocerebellar ataxia" "ADP-ribosylhydrolase ARH1" "disease of bone structure" - "Charcot-Marie-Tooth disease type 1F" "Colon Dysplasia" + "Charcot-Marie-Tooth disease type 1F" "X-17335 measurement" "1-linoleoyl-sn-glycero-3-phosphoethanolamine" "obsolete_anal region" @@ -53568,10 +53569,10 @@ "obsolete_gastric fundus" "nipple neoplasm" "branchiootic syndrome" - "calsenilin measurement" "colorblindness, partial" - "follistatin measurement"@en + "calsenilin measurement" "interleukin 1 receptor antagonist measurement" + "follistatin measurement"@en "interleukin-17A measurement" "obsolete_hyperopia" "fumarate(2-)" @@ -53607,8 +53608,8 @@ "obsolete_infantile systemic hyalinosis" "partial trisomy/tetrasomy of the short arm of chromosome 12" "trait in response to buspirone" - "obsolete_autosomal dominant hypohidrotic ectodermal dysplasia" "degree celsius" + "obsolete_autosomal dominant hypohidrotic ectodermal dysplasia" "kinesin-like protein KIF1C measurement" "hormone secretion" "signal-regulatory protein gamma" @@ -53643,19 +53644,19 @@ "level of leukocyte-specific transcript 1 protein in blood serum" "level of protein enabled in blood serum" "obsolete_seq instrument model flag" - "biomaterial provider" "obsolete_proximal symphalangism" + "biomaterial provider" "TH-1" "level of 39S ribosomal protein L1, mitochondrial in blood serum" "ventricular septal defect" "Jeune syndrome" - "X-17351 measurement" "X-linked intellectual disability - ataxia - apraxia" + "X-17351 measurement" "obsolete_Senior-Loken syndrome" "interleukin-17 receptor D measurement" + "combined oxidative phosphorylation defect type 20" "Abnormal anterior fontanelle morphology" "WD repeat-containing protein 48" - "combined oxidative phosphorylation defect type 20" "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" "N-acetylputrescine" "obsolete_cell factor" @@ -53693,10 +53694,10 @@ "ADP-ribosylation factor-like protein 1 measurement" "thin ribs-tubular bones-dysmorphism syndrome" "zinc finger protein 415 measurement" - "obsolete_Weill-Marchesani syndrome" "level of hemoglobin subunit gamma-2 in blood serum" "extrahepatic bile duct rhabdomyosarcoma" "level of calsenilin in blood serum" + "obsolete_Weill-Marchesani syndrome" "amisulpride" "obsolete_slow muscle cell somite 1" "level of AN1-type zinc finger protein 1 in blood serum" @@ -53824,12 +53825,12 @@ "dysplastic oral keratinocyte" "level of sodium/potassium-transporting ATPase subunit beta-3 in blood" "mRNA turnover protein 4" + "ADP-ribosylation factor-like protein 3 measurement" "Impaired epinephrine-induced platelet aggregation" "eye" "iPS-11a" "tooth agenesis, selective, 4" "SK-N-DZ" - "ADP-ribosylation factor-like protein 3 measurement" "free sitosterol measurement"@en "RWD domain-containing protein 1" "syndromic microphthalmia type 5" @@ -53924,10 +53925,10 @@ "presumptive shield" "psoriasis area and severity index"@en "ubiquitin-conjugating enzyme E2 G2 measurement" + "nicotine use" "complement factor I deficiency" "X-linked intellectual disability, Pai type" "L-histidine metabolic process" - "nicotine use" "multivesicular body subunit 12B" "level of estradiol 17-beta-dehydrogenase 11 in blood serum" "primary high content screen" @@ -53961,6 +53962,7 @@ "deoxynucleoside triphosphate triphosphohydrolase SAMHD1" "Toxic Nodular Goiter" "hepatobiliary benign neoplasm" + "obsolete_tarsal-carpal coalition syndrome" "T cell activation assay" "level of interleukin-20 receptor subunit beta in blood serum" "obsolete hereditary predisposition to infections" @@ -53971,9 +53973,8 @@ "carbonic anhydrase 5A, mitochondrial" "premature ovarian failure 12" "fatty acid-binding protein 9" - "obsolete_tarsal-carpal coalition syndrome" - "level of serine--tRNA ligase, cytoplasmic in blood serum" "X-12728 measurement" + "level of serine--tRNA ligase, cytoplasmic in blood serum" "L3055" "SK-N-BE(2) cell" "E3 ubiquitin/ISG15 ligase TRIM25" @@ -54174,8 +54175,8 @@ "kidney hemangiopericytoma" "Methylmalonic acidemia without homocystinuria" "obsolete_ring chromosome 10" - "X-04499--3,4-dihydroxybutyrate measurement" "erlin-1" + "X-04499--3,4-dihydroxybutyrate measurement" "OVCA433" "nicotine" "level of solute carrier family 35 member G2 in blood serum" @@ -54285,8 +54286,8 @@ "tumor necrosis factor-alpha measurement" "gephyrin" "Spinal atrophy - ophthalmoplegia - pyramidal syndrome" - "GM12762" "level of receptor activity-modifying protein 1 in blood serum" + "GM12762" "complexin-1" "acute cervicitis" "lower limb hypertrophy" @@ -54317,8 +54318,8 @@ "megakaryocyte-erythroid progenitor cell" "cataract-intellectual disability-anal atresia-urinary defects syndrome" "Failure to thrive" - "Tendon rupture" "HETE measurement" + "Tendon rupture" "obsolete_hypopharynx anlage" "level of EKC/KEOPS complex subunit TPRKB in blood serum" "neurodevelopmental disorder with or without seizures and gait abnormalities" @@ -54383,8 +54384,8 @@ "Lactobacillus reuteri F275" "obsolete_growth hormone insensitivity syndrome" "Schmidtea mediterranea" - "Hantavirus infectious disease" "zinc finger protein 566 measurement" + "Hantavirus infectious disease" "TH-2" "level of calcium-activated potassium channel subunit beta-3 in blood serum" "Pneumonia, Aspiration" @@ -54405,8 +54406,8 @@ "Gray matter heterotopia" "obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "obsolete_arachnoid cyst" - "Anhidrosis" "merkel cell virus seropositivity"@en + "Anhidrosis" "obsolete_Ehlers-Danlos/osteogenesis imperfecta syndrome" "DB" "Dowling-Degos disease 1" @@ -54436,8 +54437,8 @@ "split-foot malformation-mesoaxial polydactyly syndrome" "level of serine protease 57 in blood serum" "Disease with potential neoplastic degeneration associated with ocular features" - "tripartite motif-containing protein 72" "Nossen ecotype" + "tripartite motif-containing protein 72" "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "level of protein shisa-2 in blood" "obsolete_pyloric antrum" @@ -54527,17 +54528,17 @@ "thyroid cancer, nonmedullary, 1" "lupus erythematosus" "histone-lysine N-methyltransferase EZH2" - "Lactobacillus panis" "obsolete_isolated brachycephaly" + "Lactobacillus panis" "Retinal hemorrhage" "obsolete_subepithelial mucinous corneal dystrophy" "African iron overload" "Machado-Joseph disease type 1" "spinal cord ependymoma" "obsolete_disorder of iron metabolism and transport" - "obsolete_Grayson-Wilbrandt corneal dystrophy" "Z-DNA-binding protein 1" "level of plexin-A4 in blood serum" + "obsolete_Grayson-Wilbrandt corneal dystrophy" "malignant triton tumor" "cancer antigen 15.3 measurement"@en "mild Canavan disease" @@ -54562,11 +54563,11 @@ "level of protein Jumonji in blood serum" "bronchial disease" "CD244 measurement" + "obsolete_unknown leukodystrophy" "level of beta-1,4-galactosyltransferase 2 in blood serum" "hand dermatosis" - "obsolete_unknown leukodystrophy" - "level of glutamate--cysteine ligase regulatory subunit in blood serum" "Hypocrea virens" + "level of glutamate--cysteine ligase regulatory subunit in blood serum" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" @@ -54577,10 +54578,10 @@ "H157" "methylation profiling" "type III endosome membrane protein TEMP" - "Genetic tumor of hematopoietic and lymphoid tissues" "5-methyluridine (ribothymidine) measurement"@en "hypomyelinating leukodystrophy 4" "lambda-crystallin" + "Genetic tumor of hematopoietic and lymphoid tissues" "5'-Deoxy-5'-(methylthio) adenosine measurement" "blood cytosine measurement" "level of retinoid-binding protein 7 in blood serum" @@ -54607,13 +54608,13 @@ "kidney sarcoma" "NK-92"@en "obsolete_presomitic mesoderm" + "1-stearoyl-GPG (18:0) measurement" "liver lobule" "pronephric mesoderm" "metoprolol" "immature CD16-positive myeloid dendritic cell" - "1-stearoyl-GPG (18:0) measurement" - "level of glycosyltransferase 8 domain-containing protein 2 in blood serum" "lysophosphatidylcholine 18:3 measurement" + "level of glycosyltransferase 8 domain-containing protein 2 in blood serum" "maspardin measurement" "NT2-N cell" "obsolete_cultivar" @@ -54717,8 +54718,8 @@ "outer ear morphology trait" "visceral neuropathy, familial" "eyelid gland" - "N18" "quinine measurement" + "N18" "mitochondrial DNA deletion syndrome with progressive myopathy" "obsolete_isolated anorectal malformation" "CS57924" @@ -54777,6 +54778,7 @@ "level of exosome complex component RRP40 in blood serum" "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Central polydactyly of toes, bilateral" + "beta-tocopherol measurement" "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase" "mediastinal mesenchymal tumor" "pre-mRNA-processing factor 19" @@ -54784,11 +54786,10 @@ "behavioural inhibitory control measurement" "obsolete congenital cornea plana" "presumptive neural plate" - "beta-tocopherol measurement" - "SEC14 domain and spectrin repeat-containing protein 1" "tumor necrosis factor receptor superfamily member 1B measurement"@en - "Microsporum distortum" + "SEC14 domain and spectrin repeat-containing protein 1" "obsolete_lateral ethmoid" + "Microsporum distortum" "ATP synthase subunit O; mitochondrial measurement" "CCL15 measurement" "meristematic apical cell" @@ -54821,8 +54822,8 @@ "level of cytoplasmic dynein 1 light intermediate chain 1 in blood serum" "particulate matter air pollution measurement" "overdose"@en - "cystoisosporiasis" "obsolete_genetic cardiac anomaly" + "cystoisosporiasis" "obsolete_neonatal epilepsy syndrome" "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" "kelch-like protein 3" @@ -54844,13 +54845,13 @@ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "level of semaphorin-3B in blood serum" - "EF-hand domain-containing protein D1" "Familial partial lipodystrophy due to AKT2 mutations" - "nerve conduction amplitude" + "EF-hand domain-containing protein D1" "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "17-beta-hydroxysteroid dehydrogenase type 3" "Prolonged PR interval" "level of transcription factor SOX-6 in blood serum" + "nerve conduction amplitude" "Chronic diarrhea" "ribonucleotide metabolic process" "PL-21" @@ -54877,9 +54878,9 @@ "obsolete_Sanfilippo syndrome type D" "obsolete_congenital adrenal hyperplasia" "obsolete_ring chromosome 12" + "interleukin-5 receptor subunit alpha measurement" "S-nitrosoglutathione" "supraglottis squamous cell carcinoma" - "interleukin-5 receptor subunit alpha measurement" "abortion" "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "X-04500 measurement" @@ -54912,8 +54913,8 @@ "stromelysin-2" "level of zinc finger protein 10 in blood serum" "strongyloidiasis" - "level of Phosphatidylcholine (O-18:2_18:1) in blood serum" "level of ER membrane protein complex subunit 5 in blood serum" + "level of Phosphatidylcholine (O-18:2_18:1) in blood serum" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Pachycladon cheesemanii" "obsolete_Hurler-Scheie syndrome" @@ -54958,8 +54959,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" "129P1/ReJ" "level of PR domain zinc finger protein 4 in blood serum" - "triacylglycerol 52:2 measurement"@en "dicrocoeliasis" + "triacylglycerol 52:2 measurement"@en "diastolic blood pressure change measurement" "obsolete_optic disc" "pleckstrin homology domain-containing family A member 7" @@ -54976,26 +54977,26 @@ "Rabson-Mendenhall syndrome" "Hemoglobin SC Disease" "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Monteggia's fracture" "dynactin-associated protein measurement" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" - "acute myeloid leukemia, t(11;15)(p15;q35)" "toothache" + "acute myeloid leukemia, t(11;15)(p15;q35)" "hereditary spastic paraplegia 48" "protein mago nashi" "isolated aniridia" "semenogelin-1" - "plasma cell leukemia" "GM15223" + "plasma cell leukemia" "gestational blood glucose measurement" - "CaptureSeq" "carotid artery intima media thickness" "level of heme-binding protein 1 in blood" "level of RNA-binding protein 24 in blood serum" "nesprin-2" + "CaptureSeq" "obsolete_Adams-Oliver syndrome" "cyclophosphamide" "CS57646" @@ -55004,11 +55005,11 @@ "Oomycetes" "bilateral generalized polymicrogyria" "down syndrome cell adhesion molecule measurement" + "Rare disorder with dystonia and other neurologic or systemic manifestation" "Schnitzler syndrome" + "scavenger receptor class F member 2 measurement" "mitochondrial DNA measurement" "ischio-vertebral syndrome" - "scavenger receptor class F member 2 measurement" - "Rare disorder with dystonia and other neurologic or systemic manifestation" "ITM-E6E7-ST" "signal-transducing adaptor protein 1" "autoimmune disorder of cardiovascular system" @@ -55017,9 +55018,9 @@ "interleukin-20 (Homo sapiens)" "latent autoimmune diabetes in adults" "level of Phosphatidylcholine (15:0_18:1) in blood serum" - "obsolete_congenital sucrase-isomaltase deficiency with starch intolerance" "level of 5'-nucleotidase domain-containing protein 3 in blood serum" "level of receptor expression-enhancing protein 2 in blood" + "obsolete_congenital sucrase-isomaltase deficiency with starch intolerance" "GM17274" "acrodermatitis enteropathica" "level of receptor activity-modifying protein 3 in blood serum" @@ -55064,8 +55065,8 @@ "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" "partial monosomy of the short arm of chromosome 20" "obsolete_sickle cell disease associated with an other hemoglobin anomaly" - "level of latexin in blood serum" "bile duct carcinoma in situ" + "level of latexin in blood serum" "level of cytosolic endo-beta-N-acetylglucosaminidase in blood serum" "Epileptic encephalopathy" "level of amyloid-beta precursor protein in blood" @@ -55111,8 +55112,8 @@ "dopamine" "diacylglycerol 34:1" "familial pityriasis rubra pilaris" - "autosomal dominant rhegmatogenous retinal detachment" "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" + "autosomal dominant rhegmatogenous retinal detachment" "study design independent variable"@en "independent variable specification" "obsolete disorder of other vitamins and cofactors metabolism and transport" @@ -55140,13 +55141,13 @@ "benign essential blepharospasm" "infection" "FRISCR" - "pleiotrophin measurement" "level of T-cell leukemia/lymphoma protein 1A in blood serum" + "pleiotrophin measurement" "pharyngeal pouch 5" "malignant renal pelvis neoplasm" "obsolete_RT4-D6P2T cell" - "CHARGE syndrome" "level of serine hydroxymethyltransferase, cytosolic in blood" + "CHARGE syndrome" "appendage" "Global brain atrophy" "Granular corneal dystrophy" @@ -55305,9 +55306,9 @@ "level of bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial in blood serum" "forkhead box protein C2 measurement" "nitrocellulose substrate" - "level of interleukin-21 in blood serum" "Zymomonas mobilis" "Erysiphe necator" + "level of interleukin-21 in blood serum" "iberin" "level of Dr1-associated corepressor in blood serum" "obsolete rare insulin-resistance syndrome" @@ -55370,7 +55371,6 @@ "staurosporine" "submandibular adenitis" "obsolete_partial deletion of chromosome 19" - "obsolete_Timothy syndrome" "obsolete_Cronkhite-Canada syndrome" "protein sprouty homolog 1 measurement" "Trilogy of Fallot" @@ -55379,11 +55379,12 @@ "great vessel cancer" "obsolete_Bangstad syndrome" "Arf-GAP domain and FG repeat-containing protein 1" + "obsolete_Timothy syndrome" "insulin-induced gene 1 protein" "intellectual developmental disorder and retinitis pigmentosa; IDDRP" "level of SUN domain-containing protein 5 in blood serum" - "SCC-15" "small RNA 2'-O-methyltransferase" + "SCC-15" "metamyelocyte" "low-density lipoprotein receptor-related protein 5" "level of glutathione reductase, mitochondrial in blood" @@ -55431,11 +55432,11 @@ "insulin receptor measurement" "Machado-Joseph disease type 2" "cutaneous mucinosis" - "Illumina NextSeq 1000" "mitochondrial DNA maintenance syndrome" - "level of NADH-cytochrome b5 reductase 3 in blood serum" + "Illumina NextSeq 1000" "sphingomyelin 24:1" "anaerobic pneumonia" + "level of NADH-cytochrome b5 reductase 3 in blood serum" "X-13477 measurement" "1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine" "SELENON-related myopathy" @@ -55469,8 +55470,8 @@ "CS8581" "X-22162 measurement" "fallopian tube mucinous adenocarcinoma" - "CB4855" "neuroligin-2" + "CB4855" "B6.H2_g7" "Cecum Villous Adenoma" "protein MENT measurement" @@ -55505,10 +55506,10 @@ "Testicular Teratoma" "electrical current" "alliin measurement" - "AP-3 complex subunit sigma-2 (human)" "UMI barcode offset" - "GM11992" + "AP-3 complex subunit sigma-2 (human)" "factor XI measurement" + "GM11992" "addictive behaviour" "obsolete congenital absence/hypoplasia of fingers excluding thumb" "obsolete_autosomal recessive complex spastic paraplegia" @@ -55639,14 +55640,14 @@ "2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement" "obsolete syndromic ankyloblepharon" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement" + "hepatitis C virus seropositivity" "hypertrichosis of eyelid" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial" - "hepatitis C virus seropositivity" + "triacylglycerol 52:3 measurement"@en "OCI-AML3" "level of zinc finger protein 134 in blood serum" - "triacylglycerol 52:3 measurement"@en - "Intention tremor" "persulfide dioxygenase ETHE1, mitochondrial measurement" + "Intention tremor" "Dictyocaulus infectious disease" "IL.00 inflorescence just visible stage" "129S1/SvImJ" @@ -55731,8 +55732,8 @@ "angiopoietin-related protein 7" "heart rate response to recovery post exercise" "superior temporal gyrus volume measurement"@en - "diacylglycerol 36:2" "level of Cdc42-interacting protein 4 in blood serum" + "diacylglycerol 36:2" "autophagy-related protein 16-1" "obsolete_pure hair and nail ectodermal dysplasia" "night blindness-skeletal anomalies-dysmorphism syndrome" @@ -55822,10 +55823,10 @@ "LAPC-4" "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "programmed cell death protein 4" - "obsolete_CHIME syndrome" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" "leucine-rich repeat-containing protein 38" + "obsolete_CHIME syndrome" "insect ventral epidermis primordium" "basic fibroblast growth factor" "growth delay due to insulin-like growth factor type 1 deficiency" @@ -55903,10 +55904,10 @@ "obsolete_partial monosomy of the short arm of chromosome 20" "cancer/testis antigen 55 measurement" "junctional epidermolysis bullosa inversa" - "obsolete_Pellagra-like skin rash - neurological manifestations" "obsolete_Joubert syndrome with ocular defect" "immunoglobulin-binding protein 1 measurement" "obsolete_vagal ganglion 1" + "obsolete_Pellagra-like skin rash - neurological manifestations" "sperm surface protein Sp17" "cross sectional design" "gastric bypass" @@ -55925,8 +55926,8 @@ "Vulvar Lichen Sclerosus" "CS57737" "level of lymphocyte antigen 6 complex locus protein G6c in blood serum" - "obsolete_hereditary sensorimotor neuropathy with hyperelastic skin" "familial isolated restrictive cardiomyopathy" + "obsolete_hereditary sensorimotor neuropathy with hyperelastic skin" "neuronopathy, distal hereditary motor, type 2B" "receptor activity-modifying protein 3" "response to metamizole"@en @@ -55978,9 +55979,9 @@ "congenital enteropathy due to enteropeptidase deficiency" "free stigmasterol measurement"@en "Burkholderia mallei" - "pituitary-dependent Cushing's disease" "obsolete_retroperitoneum" "level of protein GPR15LG in blood" + "pituitary-dependent Cushing's disease" "B-cell receptor CD22 measurement" "level of KH domain-containing, RNA-binding, signal transduction-associated protein 2 in blood serum" "obsolete_alpha-N-acetylgalactosaminidase deficiency type 2" @@ -56124,9 +56125,9 @@ "t-cell surface glycoprotein CD5 measurement" "Angelman syndrome due to maternal 15q11q13 deletion" "Calyptogena pacifica gill symbiont" - "spermatogenic failure 15" "quiescent center" "thalidomide" + "spermatogenic failure 15" "level of Phosphatidylcholine (18:1_20:4) in blood serum" "reticulocalbin-3" "hTERT-HM" @@ -56183,8 +56184,8 @@ "B95-8" "obsolete_phakomatosis cesiomarmorata" "diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] measurement" - "obsolete_brain ischemia" "obsolete_bitter taste sensitivity" + "obsolete_brain ischemia" "juvenile days 45-89" "Al-Gazali syndrome" "Absent speech" @@ -56211,13 +56212,13 @@ "C57BL/6-scid" "protein MRVI1 measurement" "secondary hyperparathyroidism of renal origin" + "obsolete_peeling skin syndrome" "SCC-9" "level of otoancorin in blood" "response to perphenazine" - "obsolete_peeling skin syndrome" "ND00259" - "level of calcipressin-1 in blood serum" "non-Zellweger spectrum disorder" + "level of calcipressin-1 in blood serum" "peste des petits ruminants infectious disease" "level of V-set and immunoglobulin domain-containing protein 2 in blood serum" "obsolete_Heinz body anemia" @@ -56260,10 +56261,10 @@ "X-25271 measurement" "myofibrillar myopathy 7" "carotid artery circumferential wall stress measurement" + "erythrose measurement" "obsolete_hypochord" "level of proteasome assembly chaperone 4 in blood serum" "Radio-Tartaglia syndrome" - "erythrose measurement" "obsolete_Rothmund-Thomson syndrome" "taurolithocholic acid sulfate" "obsolete_Melhem-Fahl syndrome" @@ -56348,8 +56349,8 @@ "GM17795" "Intellectual disability - obesity - brain malformations - facial dysmorphism" "receptor expression-enhancing protein 4" - "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" "obsolete_autosomal dominant popliteal pterygium syndrome" + "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" "aldo-keto reductase family 1 member B10" "protein FAM13A" "obsolete_Neu-Laxova syndrome" @@ -56357,14 +56358,14 @@ "Daudi" "benign neoplasm of minor salivary gland" "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" - "ankyrin repeat domain-containing protein 27 measurement" - "Autosomal recessive spastic paraplegia type 75" "ethylmalonic encephalopathy" "EBC-1" "SNU182" - "Miyoshi muscular dystrophy 1" + "Autosomal recessive spastic paraplegia type 75" + "ankyrin repeat domain-containing protein 27 measurement" "glypican-1" "familial isolated arrhythmogenic ventricular dysplasia, right dominant form" + "Miyoshi muscular dystrophy 1" "obsolete_disease predisposing to age-related macular degeneration" "Abnormality of the upper limb" "syntaxin-10 measurement" @@ -56439,8 +56440,8 @@ "fasting C-peptide measurement" "ITV" "level of dynein light chain roadblock-type 2 in blood serum" - "neurofilament light polypeptide" "lignoceroylcarnitine (C24) measurement" + "neurofilament light polypeptide" "field study" "obsolete_childhood-onset epilepsy syndrome" "Nicotiana benthamiana" @@ -56481,12 +56482,12 @@ "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "obsolete_limb-mammary syndrome" "doxycycline" + "obsolete_limb-mammary syndrome" "ectropion" "COL4A1-related disorder" - "SPONASTRIME dysplasia" "level of adhesion G-protein coupled receptor D1 in blood" + "SPONASTRIME dysplasia" "developmental anomaly of metabolic origin" "diarsenic trioxide" "sebaceous gland disease" @@ -56551,8 +56552,8 @@ "brachial plexus neoplasm" "Rare hypothyroidism" "obsolete_juvenile primary lateral sclerosis" - "D-Arabinose measurement" "Xylella fastidiosa 9a5c" + "D-Arabinose measurement" "dentinogenesis imperfecta type 3" "Dyggve-Melchior-Clausen syndrome, X-linked" "E3 ubiquitin-protein ligase RNF128 measurement" @@ -56627,15 +56628,15 @@ "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" - "pappalysin‐1 measurement"@en "carbohydrate sulfotransferase 14 measurement" "secreted frizzled-related protein 1 measurement" - "scrotal carcinoma" + "pappalysin‐1 measurement"@en "obsolete_response to high-dose melphalan" + "scrotal carcinoma" + "obsolete_vagal ganglion 2" "basal endosperm transfer layer" "cobalamin transport" "Macaca radiata" - "obsolete_vagal ganglion 2" "obsolete_cancer" "sperm acrosome membrane-associated protein 1" "steroidogenic acute regulatory protein, mitochondrial" @@ -56659,13 +56660,13 @@ "level of complement C1q tumor necrosis factor-related protein 4 in blood serum" "glutamate receptor ionotropic, delta-1" "GM17117" - "1p36 deletion syndrome" "diazepam" "trichorhinophalangeal syndrome type I or III" - "blood phosphate measurement" + "1p36 deletion syndrome" "Dicentrarchus labrax" "desmoplastic melanoma" "brachial nerve plexus" + "blood phosphate measurement" "Usmani-Riazuddin syndrome, autosomal dominant" "level of CYFIP-related Rac1 interactor A in blood serum" "X-14056 measurement" @@ -56733,8 +56734,8 @@ "Poly(A)-ClickSeq" "GM17818" "chordotonal organ" - "GM17740" "25-hydroxyvitamin D2 measurement" + "GM17740" "matrix metalloproteinase 1 measurement"@en "BRCA2 and CDKN1A-interacting protein" "disorder of copper metabolism" @@ -56773,8 +56774,8 @@ "obsolete periodic paralysis with transient compartment-like syndrome" "Congenital absence of upper arm and forearm with hand present, bilateral" "cerebral arterial disease" - "n-lysine methyltransferase SMYD2 measurement" "GM17190" + "n-lysine methyltransferase SMYD2 measurement" "obsolete_presumptive rhombomere 4" "amelanotic skin melanoma" "level of keratin, type I cytoskeletal 19 in blood serum" @@ -56785,8 +56786,8 @@ "trunk neural crest" "peripheral vein" "aminoacylase activity" - "arthritis disease activity score measurement" "level of vacuolar protein sorting-associated protein 4A in blood serum" + "arthritis disease activity score measurement" "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction" "spermatogenic failure 49" "orbital fracture" @@ -56802,20 +56803,20 @@ "level of muscarinic acetylcholine receptor M1 in blood" "Bifidobacterium longum" "bacteroidales seropositivity" - "protein transport protein Sec61 subunit gamma measurement" "childhood brainstem astrocytoma" - "Visium CytAssist Spatial Gene Expression V2"@en + "protein transport protein Sec61 subunit gamma measurement" "Abnormality of the dentition" "Kn-0" - "leukocyte esterase measurement" + "Visium CytAssist Spatial Gene Expression V2"@en "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" + "leukocyte esterase measurement" "partial deletion of the long arm of chromosome X" "infiltrating urothelial carcinoma" "choroid mixed cell melanoma" "muellerian-inhibiting factor measurement" - "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" "AGAT deficiency" "level of semenogelin-1 in blood serum" + "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" "CS57779" "obsolete_Oligodontia" "level of sperm protein associated with the nucleus on the X chromosome A in blood serum" @@ -56825,14 +56826,14 @@ "obsolete_familial expansile osteolysis" "persian gulf syndrome" "level of 5'(3')-deoxyribonucleotidase, cytosolic type in blood serum" + "obsolete_proximal 16p11.2 microdeletion syndrome" "obsolete_maternal 14q32.2 microdeletion syndrome" "obsolete primary bone dysplasia with increased bone density" - "obsolete_proximal 16p11.2 microdeletion syndrome" "low-density lipoprotein receptor-related protein 6" "Emanuel syndrome" "level of beta-glucuronidase in blood" - "renal dysplasia, bilateral" "level of nuclear receptor coactivator 7 in blood serum" + "renal dysplasia, bilateral" "obsolete_response to cytosine arabinoside" "hindbrain" "level of Rho GDP-dissociation inhibitor 2 in blood serum" @@ -56880,13 +56881,13 @@ "obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" "familial reactive perforating collagenosis" "fructose-bisphosphate aldolase C measurement" + "mean corpuscular volume" "Angelman syndrome due to paternal uniparental disomy of chromosome 15" "inclusion body myopathy and brain white matter abnormalities" - "AB SOLiD 5500" "renal pelvis/ureter" + "AB SOLiD 5500" "protein transport protein Sec61 subunit beta" "chronic kidney disease" - "mean corpuscular volume" "obsolete_larval stage" "level of Phosphatidylcholine (18:2_0:0) in blood serum" "neck" @@ -56908,8 +56909,8 @@ "pemphigoid gestationis" "Hypomyelination neuropathy - arthrogryposis" "4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio" - "mixed sex population" "craniosynostosis syndrome, autosomal recessive" + "mixed sex population" "NKG2-F type II integral membrane protein" "obsolete_partial duplication of the long arm of chromosome 1" "fallopian tube adenocarcinoma" @@ -56997,14 +56998,14 @@ "Komagataella pastoris" "level of G protein-coupled receptor kinase 5 in blood serum" "obsolete_multiple carboxylase deficiency" - "Pythium ultimum" "Menstrual disorder"@en + "Pythium ultimum" "level of melanoma antigen preferentially expressed in tumors in blood" "ubiquitin carboxyl-terminal hydrolase MINDY-1" "middRAD" "Focal epilepsy - intellectual disability - cerebro-cerebellar malformation" - "obsolete congenital central hypoventilation syndrome" "level of importin subunit alpha-3 in blood serum" + "obsolete congenital central hypoventilation syndrome" "obsolete_autosomal recessive hypophosphatemic rickets" "Congenital intrauterine infection-like syndrome" "level of 3'(2'),5'-bisphosphate nucleotidase 1 in blood serum" @@ -57074,12 +57075,12 @@ "mulibrey nanism" "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" + "intersectin-1 measurement" + "fibula fracture" "cyclazosin hydrochloride" "Onthophagus nigriventris" - "intersectin-1 measurement" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "fibula fracture" "ovarian hyperstimulation syndrome" "Chlamydia pneumoniae seropositivity" "caspase-5" @@ -57104,8 +57105,8 @@ "Mayer-Rokitansky-Kuster-Hauser syndrome" "cambium" "Appendix Goblet Cell Carcinoid" - "warfarin" "DPM1-CDG" + "warfarin" "level of dihydrofolate reductase in blood serum" "Growth delay" "number of cancers, self-reported" @@ -57256,14 +57257,14 @@ "level of synembryn-A in blood serum" "microcephaly" "disorder of development or morphogenesis" + "Thumb deformity - alopecia - pigmentation anomaly" "D-Erythronolactone measurement" "glutamate receptor 4" "NCI-H125" "Autosomal recessive spastic paraplegia type 76" - "Thumb deformity - alopecia - pigmentation anomaly" + "GM17835" "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" "L-2-hydroxyglutaric aciduria" - "GM17835" "syntaxin-2 measurement" "esophagitis" "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" @@ -57282,8 +57283,8 @@ "familial hyperlipidemia" "influenza B seropositivity" "phosphatidylcholine diacyl C32:2 measurement" - "arachidonoylcarnitine (C20:4) measurement" "obsolete_ileum" + "arachidonoylcarnitine (C20:4) measurement" "dipetalonemiasis" "triacylglycerol 52:5 measurement"@en "white wine liking measurement" @@ -57308,8 +57309,8 @@ "nephrogenic fibrosing dermopathy" "hemangioma of lung" "protein FAM163A measurement" - "intertrochanteric region size" "ABI gene family member 3" + "intertrochanteric region size" "level of prestin in blood serum" "sentrin-specific protease 2" "short-chain dehydrogenase/reductase 3" @@ -57401,8 +57402,8 @@ "ribose phosphate diphosphokinase activity" "regulation of RNA splicing" "obsolete_dentinogenesis imperfecta type 2" - "Lactobacillus johnsonii" "obsolete_qualitative or quantitative defects of dysferlin" + "Lactobacillus johnsonii" "Warthin Tumor" "level of complement C1q tumor necrosis factor-related protein 5 in blood serum" "glutamate receptor ionotropic, delta-2" @@ -57452,8 +57453,8 @@ "Pterygium of the conjunctiva, familial form" "GNE myopathy" "vascular leaf primordium" - "ephrin type-a receptor 10 measurement" "keratinocyte" + "ephrin type-a receptor 10 measurement" "atelosteogenesis type II" "obsolete_formiminoglutamic aciduria" "Pathologic fracture" @@ -57659,10 +57660,10 @@ "frontotemporal dementia, right temporal atrophy variant" "CB4932" "SK-UT-2 " - "NOD.B6" "oophoritis" - "2-aminooctanoate measurement" + "NOD.B6" "citrate synthase, mitochondrial" + "2-aminooctanoate measurement" "Adipic acid measurement" "dentatorubral-pallidoluysian atrophy" "blood N-acetylcarnosine measurement" @@ -57697,10 +57698,10 @@ "Bromus secalinus" "infantile-onset epilepsy" "protein turtle homolog A measurement" + "nitrite measurement" "Drosophila teissieri" "transmembrane protein 87B" "level of Lys-Leu in blood" - "nitrite measurement" "pseudohypoaldosteronism" "IgM short lived plasma cell" "bacteroides seropositivity" @@ -58127,8 +58128,8 @@ "L-Methylcysteine" "S-methyl-L-cysteine" "(2R)-2-amino-3-(methylsulfanyl)propanoic acid" - "GCT" "GCT" + "GCT" "Abrikosoff's granulous cell tumor" "Abrikosov's tumour" "giant granulocellular Abrikosov's tumor" @@ -58713,6 +58714,9 @@ "intellectual disability syndrome, Mietens-WEBER type" "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" "Mietens-Weber syndrome" + "Devic syndrome" + "Devic's neuromyelitis optica" + "NMO" "BARE lymphocyte syndrome, type II" "Bare lymphocyte syndrome, type II" "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" @@ -58742,9 +58746,6 @@ "BARE lymphocyte syndrome" "immunodeficiency by defective expression of HLA class 2" "Bls, type 2" - "Devic syndrome" - "Devic's neuromyelitis optica" - "NMO" "n. tibialis" "ACPHD" "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" @@ -58803,9 +58804,9 @@ "fallopian tube germ cell cancer" "Goniodysgenesis--mental retardation--short stature syndrome" "Goniodysgenesis--intellectual disability--short stature syndrome" + "ganglion cervicale superius" "superior sympathetic cervical ganglion" "SCG" - "ganglion cervicale superius" "tumor of exocrine pancreas" "tumour of exocrine pancreas" "Müllerian aplasia and hyperandrogenism" @@ -62962,8 +62963,8 @@ "amyloidosis corneal" "lattice corneal dystrophy, type 3" "Retinal disease" - "STAS" "STAS" + "STAS" "2-Amino-4-mercaptobutyric acid" "Hcy" "campomelic dysplasia and related disorders" @@ -63553,8 +63554,8 @@ "Infections, Nematode" "Nematodiasis" "Disease due to Nematoda" - "CHRCC" "CHRCC" + "CHRCC" "ChRCC" "CRCC" "CRCC" @@ -65560,8 +65561,8 @@ "KBr" "polio virus meningitis" "Uroureter" - "PAAC" "PAAC" + "PAAC" "Pnpo deficiency" "PNPOD" "epileptic encephalopathy, neonatal, Pnpo-related" @@ -65624,8 +65625,8 @@ "infections, Bartonellaceae" "infection, Bartonellaceae" "Bartonellaceae infection" - "MESOM" "MESOM" + "MESOM" "response to beta-1 interferon" "pulmonary vascular element" "PMGYSA" @@ -66543,8 +66544,8 @@ "cutis laxa, autosomal recessive, type IC" "cutis laxa, autosomal recessive, type 1C" "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" - "1,5-diaminonaphthalene" "1,5-Naphthalenediamine" + "1,5-diaminonaphthalene" "1,5-Naphthylenediamine" "1,5-naphthalenediamine" "1,5-Diaminonaphthalene" @@ -67533,8 +67534,8 @@ "PC(O-40:4)" "phosphatidylcholine(O-40:4)" "PC O-40:4" - "PTCL" "PTCL" + "PTCL" "myopathy, distal, with anterior tibial onset" "DMAT" "systemic fungal infection" @@ -68067,8 +68068,8 @@ "papillary stomach adenocarcinoma" "acute myeloblastic leukaemia type 1" "acute myeloblastic leukemia type 1" - "AWM" "AWM" + "AWM" "L-Val-Gly" "VG" "V-G" @@ -68568,10 +68569,10 @@ "nerve fiber" "myoclonus cerebellar ataxia deafness" "myoclonus, cerebellar ataxia, and deafness" - "STSC" "STSC" - "AM" + "STSC" "AM" + "AM" "acute myeloblastic leukaemia type 2" "acute myeloblastic leukemia type 2" "LAM M2" @@ -68667,9 +68668,9 @@ "(2R)-2-amino-3-sulfinopropanoic acid" "3-Sulfinoalanine" "Pickwickian syndrome" + "iHiGP2" "Loeys-Dietz syndrome 5" "LDS5" - "iHiGP2" "esophageal basaloid squamous cell carcinoma" "basaloid squamous carcinoma of the oesophagus" "basaloid squamous carcinoma of the esophagus" @@ -68786,8 +68787,8 @@ "basal ganglia" "basal nucleus" "nuclei basales" - "PAASC" "PAASC" + "PAASC" "CDGF" "AL" "L-Ala-L-Leu" @@ -68988,8 +68989,8 @@ "thymic neoplasia" "PSAB" "drug addiction, susceptibility to" - "BL" "BL" + "BL" "Joubert syndrome 4" "Joubert syndrome with renal anomalies" "RDS - infants" @@ -69361,8 +69362,8 @@ "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" "frontotemporal dementia, ubiquitin-positive" "aphasia, primary progressive" - "LCLC" "LCLC" + "LCLC" "haemoglobin" "vertebrate haemoglobin" "cryptorchidism arachnodactyly intellectual deficit" @@ -69659,15 +69660,15 @@ "cleft palate, hypotelorism, and hypospadias" "hypotelorism cleft palate hypospadias" "ocular hypotelorism, submucosal cleft palate, and hypospadias" + "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" + "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" + "Chudley Rozdilsky syndrome" + "Chudley syndrome" "primary somatic sensory cortex" "somatosensory area" "somatosensory areas" "somesthetic area" "somatic sensory cortex" - "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" - "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" - "Chudley Rozdilsky syndrome" - "Chudley syndrome" "dermatitis exfoliativa" "exfoliative Dermatitides" "Dermatitides, exfoliative" @@ -69863,12 +69864,12 @@ "Kramer syndrome" "hypopigmentation oculocerebral syndrome Cross type" "oculocerebral syndrome with hypopigmentation" - "THYMUS" "THYMUS" + "THYMUS" "Paget disease, EXTRAMAMMARY" "cutaneous Paget's disease" - "EMPD" "EMPD" + "EMPD" "intellectual disability with language impairment and with or without autistic features" "mental retardation with language impairment and with or without autistic features" "FOXP1 related global developmental delay, intellectual disability and speech defects" @@ -69952,8 +69953,8 @@ "Lacunar retinal depigmentation" "female paramesonephric duct" "tuba uterina" - "fallopian tubes" "paramesonephric duct of female" + "fallopian tubes" "THCYT2" "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride" "BRL 15572 monohydrochloride" @@ -71891,8 +71892,8 @@ "Mediterranean Kaposi sarcoma" "non AIDS related Kaposi sarcoma" "African lymphadenopathic Kaposi's sarcoma" - "HHV8" "HHV8" + "HHV8" "human herpesvirus 8" "gall" "fel" @@ -72147,13 +72148,13 @@ "HALD2" "FH 2" "hyperaldosteronism, familial, type II" + "vitamina" "vitaminum" "vitamins" "vitamine" "vitamines" "vitaminas" "vitamin" - "vitamina" "autosomal recessive cutis laxa type IIIB" "cutis laxa, autosomal recessive, type IIIB" "cutis laxa, autosomal recessive, type 3B" @@ -72529,8 +72530,8 @@ "(S)-2-hydroxyoctadecanoic acid anion" "(S)-2-hydroxyoctadecanoate anion" "(S)-2-hydroxystearate anion" - "SS" "SS" + "SS" "Sezary's lymphoma" "HADDTS" "neurofibromatosis type II" @@ -72938,8 +72939,8 @@ "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" "glycogenosis of liver and muscle, autosomal recessive" "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" - "CNL" "CNL" + "CNL" "Myxothiazol A" "(+)-myxothiazol" "(+)-myxothiazol A" @@ -73197,8 +73198,8 @@ "MRD59" "INTELLECTUAL DEVELOPMENTAL DISORDER 59" "pineal parenchymal tumors of intermediate differentiation" - "PPTID" "PPTID" + "PPTID" "pineal parenchymal tumours of intermediate differentiation" "Say Barber Hobbs syndrome" "cleft palate large ears small head" @@ -74534,8 +74535,8 @@ "Ladda Zonana Ramer syndrome" "anterior limiting membrane" "Reichert's membrane" - "PTCY" "PTCY" + "PTCY" "SEMDSH" "spondyloepimetaphyseal dysplasia Shohat type" "SEMD Shohat type" @@ -74857,8 +74858,8 @@ "cataract, autosomal recessive congenital 3" "mental retardation, X-linked, syndromic, Mircsof-Langouet type" "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" - "CEMU" "CEMU" + "CEMU" "hypofibrinogenemia, familial" "optic atrophy 1" "optic atrophy, Kjer type" @@ -75043,8 +75044,8 @@ "cortical dysplasia of Taylor with balloon cells" "focal cortical dysplasia, type 2" "focal cortical dysplasia, type 2A" - "AMLMD" "AMLMD" + "AMLMD" "primordium of face" "facial primordium" "embryonic facial process" @@ -75053,8 +75054,8 @@ "Bss" "BRSS" "Spiegler-Brooke syndrome" - "PTAD" "PTAD" + "PTAD" "plasmodiosis" "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" "Witteveen-Kolk syndrome" @@ -75567,8 +75568,8 @@ "congenital transposition of the penis" "Prepenile scrotum" "COASY protein-associated neurodegeneration" - "DDCHS" "DDCHS" + "DDCHS" "spastic paraplegia 21, autosomal recessive" "malignant germ cell tumor of the corpus uteri" "malignant germ cell tumour of the corpus uteri" @@ -75704,8 +75705,8 @@ "FMD1" "Fmd" "FRONTOMETAPHYSEAL dysplasia 1" - "OCSC" "OCSC" + "OCSC" "oral squamous cell carcinoma" "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" "NEDHRIT" @@ -76340,8 +76341,8 @@ "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" "Upslanted palpebral fissures" "glandulae salivariae" - "SCCE" "SCCE" + "SCCE" "Ehlers-Danlos syndrome, classic-like, 1" "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" "EDMD7" @@ -76713,8 +76714,8 @@ "ACS 1" "nephropathy" "Punctate lenticular opacities" - "CESC" "CESC" + "CESC" "PTCA" "pars sympathica divisionis autonomici systematis nervosi" "dimethylcetone" @@ -77084,6 +77085,7 @@ "Iron(III)dicitrate" "Fe(III)dicitrate" "iron(III) dicitrate" + "genetic cardiac tumor" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" "osteosarcoma, limb anomalies, and macrocytosis" @@ -77095,7 +77097,6 @@ "epilepsy, progressive myoclonic, 2A" "Epm2" "epilepsy, progressive myoclonic, 2B" - "genetic cardiac tumor" "TTM" "notochordal cancer" "duodenal benign neoplasm" @@ -77906,6 +77907,10 @@ "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" "dyssegmental dwarfism, Rolland-Desbuquois type" "severe congenital (neonatal) NM" + "neonatal hypoxic and ischaemic brain injury" + "hypoxic and ischemic brain injury in the newborn" + "neonatal hypoxic and ischemic brain injury" + "hypoxic and ischaemic brain injury in the newborn" "maple syrup urine disease, type 3" "E3 deficiency" "maple syrup urine disease, type III" @@ -77918,10 +77923,6 @@ "Alpha KGD deficiency" "2-ketoglutarate dehydrogenase deficiency" "Alpha-Kgd deficiency" - "neonatal hypoxic and ischaemic brain injury" - "hypoxic and ischemic brain injury in the newborn" - "neonatal hypoxic and ischemic brain injury" - "hypoxic and ischaemic brain injury in the newborn" "BPH" "prostatic hyperplasia, benign" "Imuran (TN)" @@ -78807,8 +78808,8 @@ "Z E syndrome" "Z-E syndrome" "pancreatic ulcerogenic tumour syndrome" - "ZES" "ZES" + "ZES" "poikiloderma congenitale" "poikiloderma atrophicans and cataract" "tumour cell" @@ -79563,8 +79564,8 @@ "familial infiltrative fibromatosis" "desmoid disorder, hereditary" "fibromatosis, familial infiltrative" - "FIF" "FIF" + "FIF" "desmoid disease, hereditary" "desmoid/aggressive fibromatosis" "desmoid tumor caused by somatic mutation" @@ -79916,8 +79917,8 @@ "placental villus" "chorionic villus" "placental villi" - "chorionic villous" "villous of placenta" + "chorionic villous" "embryonic placenta" "neutral lipid storage disease without ichthyosis" "triglyceride deposit cardiomyovasculopathy" @@ -80451,8 +80452,8 @@ "ARB" "bestrophinopathy, autosomal recessive" "keratoderma palmoplantar spastic paralysis" - "MMB" "MMB" + "MMB" "brain trauma" "brain Traumas" "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" @@ -80676,15 +80677,15 @@ "cystic dilatation of the intrahepatic biliary tree" "CAROLI disease, isolated" "congenital polycystic dilatation of intrahepatic bile ducts" + "GRCT" + "GRCT" + "granulosa cell tumor, undetermined" "Histidinyl-Alanine" "HA" "L-His-L-Ala" "N-(2-Amino-2-carboxyethyl)histidine" "Histidinoalanine" "histidylalanine" - "GRCT" - "GRCT" - "granulosa cell tumor, undetermined" "gallbladder mucinous carcinoma" "Puertorican infant hypotonia syndrome" "Dysharmonic skeletal maturation muscular fibre disproportion" @@ -80862,13 +80863,6 @@ "large gyri of cerebrum" "pachygyria" "Broad gyri of cerebrum" - "polisacaridos" - "polisacarido" - "Glykane" - "Glycan" - "Glycane" - "glycans" - "Glykan" "N(G),N(G)-dimethylarginine" "NG,NG-Dimethyl-L-arginine" "asymmetric dimethylarginine" @@ -80879,6 +80873,13 @@ "N(5)-((dimethylamino)iminomethyl)-L-ornithine" "N,N-dimethylarginine" "NG,NG-DIMETHYL-L-ARGININE" + "polisacaridos" + "polisacarido" + "Glykane" + "Glycan" + "Glycane" + "glycans" + "Glykan" "DHS1" "DHS" "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema" @@ -83195,8 +83196,8 @@ "MRD57" "mental retardation, autosomal dominant 57" "Inflammatory bowel disease" - "LIAD" "LIAD" + "LIAD" "congenital disorder of glycosylation, type Is" "CDG Is" "loss of chromosome 8" @@ -83434,8 +83435,8 @@ "pseudohypoaldosteronism, type IIE" "TAG(56:6)" "TG(56:6)" - "BMPM" "BMPM" + "BMPM" "multilocular peritoneal cysts" "multilocular peritoneal inclusion cysts" "benign cystic peritoneal mesothelioma" @@ -84033,8 +84034,8 @@ "Cyclo(2-amino-8-oxo-9,10-epoxydecanoic acid-prolyl-alanyl-alanine)" "Cyclo(aoe-pro-ala-ala)" "Embolism and thrombosis" - "PRV" "PRV" + "PRV" "primary polycythemia" "hepatolenticular Degeneration" "WD" @@ -84952,15 +84953,6 @@ "chromosome 1, ring" "R1" "chromosome 1 ring" - "Schimke X-linked intellectual disability syndrome" - "choreoathetosis with intellectual disability X- linked" - "choreoathetosis with mental retardation X- linked" - "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" - "choreoathetosis with mental retardation, X-linked" - "Schimke X-linked mental retardation syndrome" - "choreoathetosis with intellectual disability, X-linked" - "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" - "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" "p-Allylguaiacol" "2-Methoxy-4-allylphenol" "Caryophyllic acid" @@ -84986,6 +84978,15 @@ "2-Methoxy-4-(2-propenyl)phenol" "2-Methoxy-4-(2-propen-1-yl)phenol" "2-Hydroxy-5-allylanisole" + "Schimke X-linked intellectual disability syndrome" + "choreoathetosis with intellectual disability X- linked" + "choreoathetosis with mental retardation X- linked" + "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" + "choreoathetosis with mental retardation, X-linked" + "Schimke X-linked mental retardation syndrome" + "choreoathetosis with intellectual disability, X-linked" + "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" + "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" "Mld" "cerebral sclerosis diffuse metachromatic form" "metachromatic leukodystrophy, juvenile" @@ -85203,8 +85204,8 @@ "familial persistent pulmonary hypertension of the newborn" "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" "persistent foetal circulation syndrome" - "SOFTTISSUE" "SOFTTISSUE" + "SOFTTISSUE" "N-glycan biosynthesis" "N-glycan metabolism" "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" @@ -85420,8 +85421,8 @@ "optic atrophy, non-Leber type, with early onset" "optic atrophy, X-linked" "NXG" - "GCLC" "GCLC" + "GCLC" "lipodystrophy, familial partial, Kobberling type" "lipodystrophy, familial partial, type 1" "familial partial lipodystrophy, Köbberling type" @@ -85855,8 +85856,8 @@ "angulaire" "dermarticulare" "goniale" - "Puerperal Infection" "Infections, Puerperal" + "Puerperal Infection" "Infection, Puerperal" "Puerperal Infections" "AILJK" @@ -86122,8 +86123,8 @@ "Ht" "uterus fibroma" "leiomyoma, uterine" - "UL" "UL" + "UL" "uterine leiomyoma" "cardiomyopathy, familial hypertrophic, 12" "acute capillary bronchiolitis" @@ -86136,10 +86137,10 @@ "diabetes mellitus, transient neonatal" "diabetes mellitus, 6q24-related transient neonatal" "chromosome 6-associated transient diabetes mellitus" - "maxillary cancer" - "upper jaw bone cancer" "anes" "alopecia, neurologic defects, and endocrinopathy syndrome" + "maxillary cancer" + "upper jaw bone cancer" "xeroderma pigmentosum, complementation group E" "XPe" "xeroderma pigmentosum 5" @@ -86235,8 +86236,8 @@ "Sex-linked intellectual disability, short stature, obesity and hypogonadism" "X-linked intellectual disability - short stature – obesity" "tumoral calcinosis, hyperphosphatemic, familial, 2" - "HFTC2" "HFTC2" + "HFTC2" "Cardiovascular disease" "WARFARIN SENSITIVITY, X-LINKED" "Coumarin Sensitivity, X-Linked" @@ -86673,8 +86674,8 @@ "mental retardation, autosomal recessive 35" "intellectual disability, autosomal recessive 35" "spinocerebellar ataxia 14" - "lipomatous medulloblastoma (formerly)" "lipomatous medulloblastoma (formerly)" + "lipomatous medulloblastoma (formerly)" "CLNC" "CLNC" "prootics" @@ -87302,9 +87303,9 @@ "Krintafel" "Arakoda" "WR238605" - "NUT midline carcinoma of the head and neck" "Herpes zoster ophthalmicus (HZO)" "HZO" + "NUT midline carcinoma of the head and neck" "colonic ischemia" "chorioid" "choroidea" @@ -87607,8 +87608,8 @@ "isolated cerebellar agenesis" "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" "SKDEAS" - "BPLL" "BPLL" + "BPLL" "R" "(2S)-2-amino-5-guanidinopentanoic acid" "L-(+)-arginine" @@ -88573,8 +88574,8 @@ "liver glycogen synthase deficiency" "glycogen storage disease type 0" "liver GSD 0" - "AITL" "AITL" + "AITL" "disorder of heart muscle" "syndrome, HBOC" "hereditary breast ovarian cancer" @@ -88819,8 +88820,8 @@ "polyneuropathy intellectual disability acromicria premature menopause" "Gastrointestinal hamartomatous polyps" "COGIS" - "glomerular capillary system" "glomerular capillaries" + "glomerular capillary system" "nucleus proprius stria terminalis (bed nucleus)" "nucleus interstitialis striae terminalis" "nucleus of the stria terminalis" @@ -89202,8 +89203,8 @@ "GR127935 hydrochloride" "ptosis, strabismus, and ectopic pupils" "ptosis strabismus ectopic pupils" - "GBASC" "GBASC" + "GBASC" "rhabdomyosarcoma alveolar" "rhabdomyosarcoma, alveolar" "rhabdomyosarcoma 2" @@ -89814,8 +89815,8 @@ "fludrocortisone" "fludrocortisone" "fludrocortisona" - "LXSC" "LXSC" + "LXSC" "LIGOWS" "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" "PRSCC" @@ -90287,8 +90288,8 @@ "osteoarthritis with mild chondrodysplasia" "roof of mouth" "palatum" - "COAD" "COAD" + "COAD" "alcohol-induced disorder" "alcohol induced disorders" "PAPA6" @@ -90693,8 +90694,8 @@ "hormona esteroide" "fibrohistiocytic tumour" "fibrohistiocytic tumor" - "DF" "DF" + "DF" "pleomorphic fibroma" "branched chain amino acid metabolism disorder" "disorder of branched chain amino acid metabolism" @@ -91245,8 +91246,8 @@ "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" "CHTD7" "cystitis in trichomoniasis" - "eye anlage" "eye field" + "eye anlage" "optic field" "optic placodes" "type II hyperlipidemia" @@ -91527,8 +91528,8 @@ "Growth hormone deficiency, isolated, partial" "Growth hormone, insensitivity to, partial" "GHIP" - "MSTAD" "MSTAD" + "MSTAD" "SMNA" "sensorimotor neuropathy with ataxia, autosomal dominant" "spinocerebellar ataxia 18" @@ -92663,8 +92664,8 @@ "yolk sac tumour" "endodermal sinus tumor of the testis" "yolk sac tumor" - "yolk Sac tumour of the testis" "endodermal sinus neoplasm of testis" + "yolk Sac tumour of the testis" "yolk Sac neoplasm of testis" "yolk Sac tumor of testis" "endodermal sinus tumour of testis" @@ -92896,8 +92897,8 @@ "amyotrophy-fat tissue anomaly syndrome" "amyotrophy fat tissue anomaly" "nodular erythema digital changes" - "GN" "GN" + "GN" "cranio osteoarthropathy" "ACNINV1" "acne inversa, familial" @@ -93121,8 +93122,8 @@ "macrocephaly, pseudopapilledema, and multiple hemangiomata" "macrocephaly, multiple lipomas, and hemangiomata" "therapy-related myeloid neoplasms" - "TMN" "TMN" + "TMN" "Fanconi anemia, complementation group C" "Fanconi pancytopenia, type 3" "facc" @@ -93294,8 +93295,8 @@ "phosphoribosyl pyrophosphate synthetase activity" "phosphoribosylpyrophosphate synthase activity" "papillary cystadenoma lymphomatosum" - "papillary cystadenoma lymphomatosum (formerly)" "papillary cystadenoma lymphomatosum (formerly)" + "papillary cystadenoma lymphomatosum (formerly)" "Magnesiumchlorid" "Magnesium chloride anhydrous" "[MgCl2]" @@ -93598,8 +93599,8 @@ "hypertrichosis, atrophic skin, ectropion, and macrostomia" "Bss" "papillary renal cell carcinoma, bilateral - (subtype)" - "RCCP" "RCCP" + "RCCP" "papillary renal cell carcinoma, multiple - (subtype)" "renal adenocarcinoma" "RCCP1" @@ -93641,8 +93642,8 @@ "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" "chromosome 2q23.1 microdeletion syndrome" - "THYC" "THYC" + "THYC" "PC(42:1)" "PC 42:1" "GPCho(42:1)" @@ -96413,8 +96414,8 @@ "hemochromatosis" "haemochromatosis" "ApoA-I and apoC-III deficiency, combined" - "SCLC" "SCLC" + "SCLC" "oat cell carcinoma" "oat cell carcinoma (morphologic abnormality)" "poorly differentiated endocrine neoplasm" @@ -96923,8 +96924,8 @@ "sialidosis" "iridogoniodysgenesis syndrome" "vitamin or cofactor transport" - "SS" "SS" + "SS" "brachial plexus neuritis" "bursa" "polymorphonuclear leucocyte" @@ -97186,8 +97187,8 @@ "ocular tumour" "mandibuloacral dysplasia" "progesterone receptor binding" - "ET" "ET" + "ET" "Capillary Malformation-Arteriovenous Malformation" "meconium ileus" "plasma" @@ -97799,9 +97800,9 @@ "autosomal dominant spastic paraplegia 29" "rIL-33" "4-acetamidobutanoate" + "blood cadherin-22 amount" "level of PC(16:0_16:1) in blood serum" "blood serum PC(16:0_16:1) amount" - "blood cadherin-22 amount" "C3 deficiency" "classic complement early component deficiency caused by mutation in C3" "C3 classic complement early component deficiency" @@ -98051,8 +98052,8 @@ "lactose intolerance adult type" "lactose intolerance, ADULT type" "lactase persistence/nonpersistence" - "chest sound abnormal" "blood serum clusterin-associated protein 1 amount" + "chest sound abnormal" "blood serum peptidyl-prolyl cis-trans isomerase FKBP1A amount" "blood serum nuclear distribution protein nudE homolog 1 amount" "FORMALDEHYDE" @@ -98526,11 +98527,6 @@ "Carney complex variant" "Carney complex - trismus - pseudocamptodactyly syndrome" "XPB" - "ARVD14" - "arrhythmogenic right ventricular dysplasia, familial, 14" - "Arrhythmogenic Right Ventricular Cardiomyopathy 14" - "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" - "blood autophagy-related protein 16-1 amount" "optic papilla oedema" "optic disk edema" "edema, optic disk" @@ -98567,6 +98563,11 @@ "optic disc oedema" "edema of the optic disk" "optic papillitis" + "ARVD14" + "arrhythmogenic right ventricular dysplasia, familial, 14" + "Arrhythmogenic Right Ventricular Cardiomyopathy 14" + "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" + "blood autophagy-related protein 16-1 amount" "blood serum CCN family member 1 amount" "lipolysis" "lipid catabolism" @@ -99149,10 +99150,10 @@ "VATER association" "VACTERL Association" "blood serum IgG receptor FcRn large subunit p51 amount" - "blood thymidine phosphorylase amount" "Actinobacillus pleuropneumoniae serovar 1 strain 4074" "Actinobacillus pleuropneumoniae 4074" "Kowarski syndrome" + "blood thymidine phosphorylase amount" "dermatopathia pigmentosa reticularis" "3,3',4,4'-tetrachloro-1,1'-biphenyl" "blood serum long-chain fatty acid transport protein 2 amount" @@ -99238,10 +99239,10 @@ "Paget's disease of penis" "Paget's disease of the penis" "penis Paget disease" - "orthopaedic nursing" - "orthopaedic care" "H929" "anterodorsal lateral line ganglion" + "orthopaedic nursing" + "orthopaedic care" "spastic ataxia type 7" "SPAX7" "autosomal dominant spastic ataxia type 7" @@ -99440,12 +99441,12 @@ "RA 1" "Ramos-RA1" "Ramos 1" + "Dinno syndrome" "sarcoma of the bone" "sarcoma of bone" "osseous sarcoma" "skeletal sarcoma" "bone sarcoma" - "Dinno syndrome" "Piussan-Lenaerts-Mathieu syndrome" "SCA5" "spinocerebellar ataxia type 5" @@ -99459,18 +99460,18 @@ "subarachnoid space of neuraxis" "intellectual disability, Mietens-Weber type" "congenital cataracts" - "MHC class II expression deficiency" - "immunodeficiency by defective expression of HLA class type 2" - "HLA class 2-negative SCID" - "HLA class 2-negative severe combined immunodeficiency" - "major histocompatibility complex class II expression deficiency" - "SCID due to absent class II HLA antigens" "Devic's syndrome" "Neuromyelitis Optica Spectrum Disorder" "Devic disease" "Devic syndrome" "Devic's disease" "neuromyelitis optica" + "MHC class II expression deficiency" + "immunodeficiency by defective expression of HLA class type 2" + "HLA class 2-negative SCID" + "HLA class 2-negative severe combined immunodeficiency" + "major histocompatibility complex class II expression deficiency" + "SCID due to absent class II HLA antigens" "nucleic acid library preparation" "nucleic acid library construction" "library construction" @@ -99538,11 +99539,11 @@ "sigmoid colon cancer" "Streptococcus pyogenes strain MGAS6180" "Streptococcus pyogenes str. MGAS6180" - "Abnormal liver function tests during pregnancy" "leukedema of mouth" "oral leukoedema" "Leukoedema, Oral" "Leukedema of mouth" + "Abnormal liver function tests during pregnancy" "blood sodium/potassium-transporting ATPase subunit beta-1 amount" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" @@ -99854,8 +99855,8 @@ "benign neoplasm of cerebral hemispheres" "benign cerebral tumor" "telencephalon benign neoplasm" - "benign cerebral tumour" "benign neoplasm of the cerebrum" + "benign cerebral tumour" "benign cerebral hemispheric tumour" "benign neoplasm of the cerebral hemispheres" "adenocarcinoma of the small bowel" @@ -100027,9 +100028,9 @@ "Galactocerebrosidase deficiency" "blood serum caveolin-2 amount" "dependence" - "intellectual disability, autosomal recessive 60" "NB19-RIKEN" "NB-19" + "intellectual disability, autosomal recessive 60" "hereditary spastic paraplegia 7" "autosomal recessive spastic paraplegia 7" "SPG7 hereditary spastic paraplegia" @@ -100264,13 +100265,13 @@ "aHUS with thrombomodulin anomaly" "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" "hemolytic uremic syndrome, atypical, susceptibility to, type 6" - "Sengers syndrome" "HYPT4" "hypotrichosis type 4" "Marie Unna hereditary hypotrichosis 1" "MUHH1" "hypotrichosis, Marie Unna type, 1" "hypotrichosis 4" + "Sengers syndrome" "blood 1-stearoyl-sn-glycero-3-phosphocholine amount" "uterine corpus adenomyosis" "blood serum protein FAM229A amount" @@ -100784,12 +100785,12 @@ "Luys' body" "nucleus subthalamicus" "apoplast" + "Red palms disease" + "Lane disease" "uvula palatina" "uvula of palate" "uvula" "palatine uvula" - "Red palms disease" - "Lane disease" "AIMAH2" "primary macronodular adrenal hyperplasia" "Joubert syndrome 37" @@ -101064,9 +101065,9 @@ "inflammation of colorectum" "colorectum inflammation" "proctocolitis" - "blood serum glycogen synthase kinase-3 beta amount" "Peripheral neuropathy, Fiskerstrand type" "PHARC syndrome" + "blood serum glycogen synthase kinase-3 beta amount" "common honey bee" "Apis mellifera ligustica Spinola, 1806" "common honeybee" @@ -101190,9 +101191,9 @@ "Orbital Cellulitis" "vitamin B1" "sodium dioxido(dioxo)tungsten--water (1/2)" - "blood serum cytohesin-2 amount" "Albright hereditary osteodystrophy - PHP Ia" "AHO - PHP Ia" + "blood serum cytohesin-2 amount" "Rajab-Spranger syndrome" "Lethal variant of Simpson-Golabi-Behmel syndrome" "SGBS2" @@ -101332,10 +101333,10 @@ "myelosclerosis" "bone marrow fibrosis" "idiopathic bone marrow fibrosis" - "CIMF" "CIMF" - "AMM" + "CIMF" "AMM" + "AMM" "myelofibrosis, somatic" "myelosclerosis with myeloid metaplasia" "chronic idiopathic myelofibrosis" @@ -101345,9 +101346,9 @@ "5-amino-4-imidazole carboxamide ribosiduria" "ATIC deficiency" "blood C-type lectin domain family 11 member A amount" + "TruSeq-inDrop" "blood serum protein canopy homolog 4 amount" "blood serum enoyl-CoA hydratase, mitochondrial amount" - "TruSeq-inDrop" "cardiopulmonary arrest" "circulatory arrest" "blood serum ankyrin repeat and SOCS box protein 13 amount" @@ -101595,6 +101596,8 @@ "Cystic ovaries" "blood tetradecanedioate(2-) amount" "GM14381 cell" + "Ververi-Brady syndrome" + "individual_genetic_characteristics_design" "Sex cord stromal tumor" "Sex Cord-Gonadal Stromal Tumors" "Specialized gonadal tumor (qualifier value)" @@ -101619,8 +101622,8 @@ "Sex cord-stromal tumor, no ICD-O subtype" "Sex Cord-Stromal tumor" "specialised gonadal tumour (qualifier value)" - "specialised gonadal neoplasm" "sex cord-stromal tumor" + "specialised gonadal neoplasm" "Sex cord-stromal neoplasm" "specialised gonadal neoplasm (morphologic abnormality)" "specialized gonadal tumor (qualifier value)" @@ -101628,8 +101631,6 @@ "sex cord neoplasm" "sex cord-gonadal stromal tumour" "sex cord-gonadal stromal tumor" - "Ververi-Brady syndrome" - "individual_genetic_characteristics_design" "Indian rice" "Oryza sativa indica" "Oryza sativa (indica cultivar-group)" @@ -101659,9 +101660,9 @@ "age at onset of bipolar disorder" "acne, adult" "blood coatomer subunit epsilon amount" + "Anomalie du développement des yeux d'origine génétique" "Hypoplastic acetabula" "Acetabular hypoplasia" - "Anomalie du développement des yeux d'origine génétique" "Penile carcinoma" "(2S)-3,4-dihydro-2H-pyrrole-2-carboxylate" "(S)-1-pyrroline-5-carboxylate" @@ -101716,11 +101717,11 @@ "tumor of the endometrium" "endometrial neoplasm" "neoplasm of the endometrium" + "blood interferon-induced protein with tetratricopeptide repeats 1 amount" "systemic tissue Mast cell disease" "systemic mastocytosis" "SMCD - systemic mast cell disease" "systemic tissue mast cell disease" - "blood interferon-induced protein with tetratricopeptide repeats 1 amount" "superficial epidermolytic ichthyosis" "SEI" "ichthyosis bullosa of Siemens" @@ -102110,19 +102111,19 @@ "Reifenstein syndrome" "pais" "PAIS" - "erythrocyte GALE deficiency" - "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" - "erythrocyte UDP-galactose-4-epimerase deficiency" - "erythrocyte epimerase deficiency galactosemia" - "erythrocyte GALE-D" "lung diffuse large B-cell lymphoma" "diffuse large B-cell lymphoma of lung" "high grade MALT lymphoma of the lung" "pulmonary diffuse large B-cell lymphoma" "primary pulmonary diffuse large B-cell lymphoma" + "erythrocyte GALE deficiency" + "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" + "erythrocyte UDP-galactose-4-epimerase deficiency" + "erythrocyte epimerase deficiency galactosemia" + "erythrocyte GALE-D" "calcifying fibrous tumor" - "CFT" "CFT" + "CFT" "calcifying fibrous pseudotumor" "adult pineal parenchymal cell tumor" "parenchymal tumor of the adult pineal gland" @@ -102179,12 +102180,6 @@ "Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)" "chondrodysplasia lethal recessive" "Maroteaux-Stanescu-Cousin syndrome" - "pharyngeal lymphatic ring" - "Waldeyer's tonsillar ring" - "anulus lymphoideus pharyngis" - "pharyngeal lymphoid ring" - "Waldeyer's ring" - "oropharyngeal lymphoid tissue" "Childhood Acute Differentiated Monocytic Leukemia (M5b)" "M5b Pediatric Acute Differentiated Monocytic Leukemia" "M5b Childhood Acute Differentiated Monocytic Leukemia" @@ -102193,8 +102188,14 @@ "Childhood Acute Monocytic Leukemia with Differentiation" "Pediatric Acute Differentiated Monocytic Leukemia" "Pediatric Acute Monocytic Leukemia with Differentiation" - "Blood clot in vein" + "pharyngeal lymphatic ring" + "Waldeyer's tonsillar ring" + "anulus lymphoideus pharyngis" + "pharyngeal lymphoid ring" + "Waldeyer's ring" + "oropharyngeal lymphoid tissue" "blood serum immunoglobulin heavy constant gamma 4 amount" + "Blood clot in vein" "blood serum Axin-2 amount" "Laterality, Behavioral" "Writings, Mirror" @@ -102245,13 +102246,13 @@ "Rate Of Respiration, Decreased" "blood serum serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform amount" "blood serum Sterol ester (27:1/20:5) amount" - "Partial monosomy of chromosome 17p" - "Partial deletion of the short arm of chromosome 17" - "Partial deletion of chromosome 17p" "fibrochondrogenesis caused by mutation in COL11A1" "fibrochondrogenesis type 1" "fibrochondrogenesis 1" "COL11A1 fibrochondrogenesis" + "Partial monosomy of chromosome 17p" + "Partial deletion of the short arm of chromosome 17" + "Partial deletion of chromosome 17p" "metopic synostosis" "interfrontal craniofaciosynostosis" "FASPS" @@ -102378,10 +102379,10 @@ "decidua cell" "decidual stromal cell" "Hereditary von Willebrand disease" + "blood serum inositol polyphosphate-5-phosphatase A amount" "EEG: generalised slow activity" "EEG with generalised slow activity" "EEG: generalized slow activity" - "blood serum inositol polyphosphate-5-phosphatase A amount" "malarial encephalitis" "cerebral malaria" "iPS_CWRU1" @@ -102541,8 +102542,8 @@ "hematopoietic system disease or disorder" "haematopoietic system disease or disorder" "hematological system disorder" - "blood disorder" "disease of haematopoietic system" + "blood disorder" "haematological system disorder" "hematological disease" "blood dyscrasia" @@ -102635,8 +102636,8 @@ "Infection by Pityrosporum furfur" "thrombophilia due to activated protein C resistance" "thrombophilia 2 due to activated protein C resistance" - "blood Val-Leu amount" "COLO-783" + "blood Val-Leu amount" "RIN2 deficiency" "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" @@ -102956,11 +102957,11 @@ "Thumb deformity" "Abnormality of the thumb" "Abnormality of the thumbs" - "hyperplasia, thymus" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" "dyskeratosis congenita and related telomere biology disorder" "blood serum defensin beta 136 amount" + "hyperplasia, thymus" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" "AO3" @@ -103085,6 +103086,7 @@ "Autosomal dominant polycystic liver disease" "PCLD" "mediastinal part of chest" + "blood serum polyadenylate-binding protein 3 amount" "Balkan nephropathy" "endemic nephropathy" "Balkan endemic nephropathy" @@ -103092,7 +103094,6 @@ "Chinese herb endemic nephropathy" "aristolochic acid nephropathy" "Danubian endemic familial nephropathy" - "blood serum polyadenylate-binding protein 3 amount" "monosomy 16p13.11" "16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)" "Del(16)(p13.11)" @@ -103245,8 +103246,8 @@ "vanadium" "Eubacterium crispatum" "gonad disease or disorder" - "gonadal disorder" "gonadal disorders" + "gonadal disorder" "disease or disorder of gonad" "disorder of gonad" "disease of gonad" @@ -103257,8 +103258,8 @@ "Redundant eyelid skin" "Extra eyelid skin" "Eyelid dermatochalasia" - "blood serum cadherin-4 amount" "SPG16" + "blood serum cadherin-4 amount" "blood serum EF-hand domain-containing protein D1 amount" "blood serum visual system homeobox 1 amount" "IL-1beta" @@ -103879,7 +103880,6 @@ "acatalasemia" "blood serum Toll-like receptor 3 amount" "genetic_modification_design" - "genome tiling array" "amoxicillin/clavulanic acid-induced pemphigus vulgaris" "drug-related pemphigus" "biologic therapy-induced pemphigus" @@ -103887,6 +103887,7 @@ "pemphigus herpetiformis-type drug reaction" "drug-induced pemphigoid" "bucillamine-induced pemphigus foliaceus" + "genome tiling array" "blood serum sorting nexin-5 amount" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 amount" "blood serum short stature homeobox protein amount" @@ -104067,6 +104068,7 @@ "vagina rhabdomyosarcoma" "GM15036 cell" "COLO-792" + "Proud-Levine-Carpenter syndrome" "Severe Sepsis" "Septicemia, NOS" "Poisoning, Blood" @@ -104108,7 +104110,6 @@ "Nonaka Myopathy" "blood serum coiled-coil domain-containing protein 24 amount" "blood serum thiamin pyrophosphokinase 1 amount" - "Proud-Levine-Carpenter syndrome" "Hypogonadotrophic hypogonadism" "Low gonadotropins (secondary hypogonadism)" "Roberts syndrome" @@ -104436,6 +104437,10 @@ "Macular Leprosies" "Leprosy, Tuberculoid" "Tuberculoid leprosy [type T]" + "Fukuhara syndrome" + "myoclonic epilepsy- ragged red fibers" + "Myoclonus epilepsy associated with ragged-red fibers" + "MERRF syndrome" "adenosarcoma of the body of uterus" "adenosarcoma of uterine body" "uterine corpus Mullerian adenosarcoma" @@ -104452,10 +104457,6 @@ "Isolated mitochondrial respiratory chain complex IV deficiency" "Isolated COX deficiency" "Contractures" - "Fukuhara syndrome" - "myoclonic epilepsy- ragged red fibers" - "Myoclonus epilepsy associated with ragged-red fibers" - "MERRF syndrome" "hereditary renal oncocytoma" "hereditary kidney oncocytoma" "familial renal oncocytoma" @@ -104721,10 +104722,6 @@ "Defective erythropoiesis" "RCB0009" "fils syndrome" - "branched-chain aminotransferase deficiency" - "HVLI" - "hypervalinemia and hyperleucine-isoleucinemia" - "hypervalinemia or hyperleucine-isoleucinemia" "Bell Palsy" "paralysis Of Facial nerve" "facial nerve paralysis" @@ -104734,6 +104731,10 @@ "palsy of facial nerve" "Bell palsy" "facial nerve palsy" + "branched-chain aminotransferase deficiency" + "HVLI" + "hypervalinemia and hyperleucine-isoleucinemia" + "hypervalinemia or hyperleucine-isoleucinemia" "Anterior synechiae" "Iridocorneal synechia" "Cornea-iris adhesion" @@ -104748,7 +104749,6 @@ "mucinous cystadenoma" "adenoma, mucinous, benign" "pseudomucinous cystadenoma" - "Chudley-Lowry syndrome" "goiter, nontoxic, with Intrathyroidal calcification" "familial MNG" "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" @@ -104756,6 +104756,7 @@ "MNG1" "FMNG" "blood eukaryotic translation initiation factor 2-alpha kinase 3 amount" + "Chudley-Lowry syndrome" "intestinal tumors, malignant" "malignant intestinal neoplasms" "malignant intestinal tumour" @@ -104940,6 +104941,7 @@ "blood serum peptidyl-prolyl cis-trans isomerase H amount" "blood serum TNF receptor-associated factor 4 amount" "NEDMISB" + "urological diseases" "urinary system disorder" "diseases, urologic" "disorder of renal system" @@ -104965,7 +104967,6 @@ "diseases, urinary tract" "non-neoplastic urinary tract disease" "urinary tract disease" - "urological diseases" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" "NADGP" @@ -105670,8 +105671,8 @@ "blood CD164 sialomucin-like 2 protein amount" "Ras mediated signal transduction" "blood paralemmin-2 (human) amount" - "non-Hodgkin lymphoma of lung" "primary lung non-Hodgkin's lymphoma" + "non-Hodgkin lymphoma of lung" "lung non-Hodgkin's lymphoma" "lung non-Hodgkin lymphoma" "C803" @@ -105878,6 +105879,7 @@ "malignant mixed neoplasm of body of uterus" "malignant uterine corpus mixed tumor" "malignant body of uterus mixed tumor" + "Maturity-onset diabetes of the young" "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 amount" "follicular mucinosis" "hair follicle cutaneous focal mucinosis" @@ -105886,7 +105888,6 @@ "Alopecia mucinosa" "cutaneous focal mucinosis of hair follicle" "alopecia Mucinosa" - "Maturity-onset diabetes of the young" "renal oncocytoma" "renal epithelial oncocytic tumour" "kidney oncocytoma" @@ -106016,9 +106017,9 @@ "nucleus accumbens whole" "colliculus of caudate nucleus" "Nucleus accumbens" + "ligament organ" "malonyl-CoA decarboxylase deficiency" "malonic aciduria" - "ligament organ" "MMIHS5" "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "blood kynurenic acid amount" @@ -106106,16 +106107,17 @@ "Familial berry aneurysm" "Familial intracranial saccular aneurysm" "Kaler-Garrity-Stern syndrome" - "Del(2)(p21) without cystinuria" "Mucoepidermoid neoplasm NOS (morphologic abnormality)" "Mucoepidermoid neoplasm (morphology)" "Mucoepidermoid neoplasm (morphologic abnormality)" "Mucoepidermoid Tumor" "Mucoepidermoid tumor [obs]" + "Del(2)(p21) without cystinuria" "homeostasis" "SPAX4" "Autosomal recessive spastic ataxia type 4" "46,XY DSD due to impaired androgen production" + "Pseudotoxoplasmosis syndrome" "tumor of uterine corpus" "body of uterus neoplasm" "body of uterus tumor" @@ -106152,7 +106154,6 @@ "corpus uteri tumor" "response to HHT" "response to omacetaxine mepesuccinate" - "Pseudotoxoplasmosis syndrome" "Jasmonic acid" "{(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid" "(2R)-3-hydroxy-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" @@ -106259,10 +106260,10 @@ "blood enoyl-[acyl-carrier-protein] reductase, mitochondrial amount" "leiomyomatosis peritonealis disseminata" "diffuse peritoneal leiomyomatosis" - "LPD" "LPD" - "DPL" + "LPD" "DPL" + "DPL" "leiomyomatosis peritonealis disseminate" "disseminated peritoneal leiomyomatosis" "nephronophthisis (disease) caused by mutation in INVS" @@ -106587,12 +106588,12 @@ "muscular dystrophy, congenital, with rapid progression" "blood serum palmitoyl-protein thioesterase 1 amount" "blood serum trans-3-hydroxy-L-proline dehydratase amount" - "Septoria tritici" - "Mycosphaerella graminicola" "SDS polyacrylamide gel electrophoresis" "SDS-PAGE electrophoresis" "SDS polyacrylamide gel electrophoresis of proteins" "sodium dodecyl sulphate–polyacrylamide gel electrophoresis" + "Septoria tritici" + "Mycosphaerella graminicola" "Reactive Hyperemias" "Hyperemias, Reactive" "Engorgement, Venous" @@ -106999,13 +107000,13 @@ "observed copy number variation" "muscular dystrophy-dystroglycanopathy" "CMD due to dystroglycanopathy" - "TAG 56:8" "invasive ductal carcinoma cell" "breast infiltrating ductal carcinoma cell" "IDC cell" "Stage R1 Open flower at any node on the main stem" "Arabidopsis Growth Stage 6.10" "Arabidopsis Growth Stage 5.10" + "TAG 56:8" "BBS" "blood voltage-gated potassium channel KCNH2 amount" "Chemokine (C-C motif) ligand 4 level" @@ -107024,6 +107025,8 @@ "multipotent stem cell" "multipotent cell" "multifate stem cell" + "iliopsoas abscess" + "Psoas muscle abscess" "Costa's acrokeratoelastoidosis" "|punctate palmoplantar keratoderma type 3" "ake" @@ -107033,8 +107036,6 @@ "punctate palmoplantar keratoderma type III" "acrokeratoelastoidosis of Costa" "punctate palmoplantar keratoderma type 3" - "iliopsoas abscess" - "Psoas muscle abscess" "2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate" "regio occipitalis" "central nervous system primitive neuroectodermal neoplasm of adults" @@ -107132,6 +107133,10 @@ "Verda reno" "Vero 81" "VeroCCL81" + "neural tube floorplate" + "floor plate neural tube" + "neural tube floor plate" + "floorplate of neural tube" "set of retinal blood vessels" "retina vasculature of camera-type eye" "retinal blood vessels" @@ -107140,10 +107145,6 @@ "retinal blood vessels set" "retina vasculature" "set of blood vessels of retina" - "neural tube floorplate" - "floor plate neural tube" - "neural tube floor plate" - "floorplate of neural tube" "2-hydroxyhexanedioate" "Benign neonatal-infantile epilepsy" "BFNIS" @@ -107533,10 +107534,10 @@ "amaurosis congenita of Leber II" "brain rudiment" "presumptive brain" + "song sparrow" "familial hypospadias" "hypospadias (disease)" "hypospadias" - "song sparrow" "Kagami-Ogata syndrome" "MCA due to 14q32.2 maternally expressed gene defect" "blood plasma 9,10-DiHODE amount" @@ -107730,8 +107731,8 @@ "inborn sterol biosynthetic process disorder" "inborn error of sterol biosynthetic process" "rare inborn error of sterol biosynthetic process" - "blood serum lamin-B2 amount" "blood serum cAMP-responsive element modulator amount" + "blood serum lamin-B2 amount" "Naumovia" "malignant placenta tumor" "malignant placenta tumour" @@ -107849,11 +107850,11 @@ "autosomal dominant cerebellar ataxia caused by mutation in MME" "SMARCA2-related blepharophimosis-intellectual disability syndrome" "Abnormality of tear production" - "blood serum protein Red amount" "T-cell childhood lymphoblastic lymphoma" "T lymphoblastic lymphoma" "childhood precursor T-lymphoblastic lymphoma" "childhood T lymphoblastic lymphoma" + "blood serum protein Red amount" "greasy cutworm moth" "Agrotis ipsolon" "dark sword grass moth" @@ -107984,9 +107985,9 @@ "PDHBD" "pyruvate dehydrogenase complex E1 component subunit beta deficiency" "pyruvate dehydrogenase E1-beta deficiency" - "blood serum 6-phosphogluconolactonase amount" "intra-individual response time variability measurement" "IIRTV measurement" + "blood serum 6-phosphogluconolactonase amount" "blood serum 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol amount" "inherited Gronblad Strandberg syndrome" "inherited PXE" @@ -108108,6 +108109,7 @@ "sensory subsystem" "sense organs" "sense organ subsystem" + "DYT31" "hypereosinophilic disease" "Idiopathic Hypereosinophilic Syndrome" "Loeffler Endocarditis" @@ -108116,17 +108118,16 @@ "eosinophilic leukocytosis" "hypereosinophilic syndrome" "hypereosinophilic disorder" - "DYT31" "2-aminoadipic 2-oxoadipic aciduria" "alpha-aminoadipic and alpha-ketoadipic aciduria" "alpha-aminoadipic aciduria" "Ketoadipicaciduria" "AMOXAD" - "blood serum musculoskeletal embryonic nuclear protein 1 amount" "Distal portion of anterior descending branch of left coronary artery" - "blood serum glycine cleavage system H protein, mitochondrial amount" + "blood serum musculoskeletal embryonic nuclear protein 1 amount" "intrinsic cardiomyopathy" "primary cardiomyopathy" + "blood serum glycine cleavage system H protein, mitochondrial amount" "Keipert syndrome" "nasodigitoacoustic syndrome" "Keipert syndrome, X-linked recessive" @@ -108200,12 +108201,6 @@ "2-methyl-3-hydroxybutyric aciduria" "MHBD deficiency" "HSD10 deficiency" - "Karpas 620" - "KARPAS-620" - "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" - "blood serum actin-related protein 2/3 complex subunit 3 amount" - "level of PI(18:0_18:1) in blood serum" - "blood serum PI(18:0_18:1) amount" "Trichostrongylus infectious disease" "infection by Trichostrongylus" "Infection by Trichostrongylus" @@ -108216,6 +108211,12 @@ "Infection by Trichostrongylus species" "Trichostrongylus caused disease or disorder" "Trichostrongylus disease or disorder" + "Karpas 620" + "KARPAS-620" + "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" + "blood serum actin-related protein 2/3 complex subunit 3 amount" + "level of PI(18:0_18:1) in blood serum" + "blood serum PI(18:0_18:1) amount" "coho salmon" "Oncorhynchus kisutch (Walbaum, 1792)" "Oncorhyncus kisutch" @@ -108287,10 +108288,10 @@ "iPS NIHi11" "blood serum tripeptidyl-peptidase 1 amount" "neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome" + "diastasis symphysis pubis" "hereditary vesicoureteral reflux (disease)" "familial VUR" "reactive cutaneous fibrous lesion" - "diastasis symphysis pubis" "thyroid stimulating hormone producing tumour of the pituitary" "TSH producing tumor of the pituitary gland" "TSH secreting tumour of the pituitary" @@ -108443,8 +108444,8 @@ "Diabetic renal disease (disorder)" "Nephropathy, Diabetic" "Kidney Disease, Diabetic" - "DMII RENAL UNCNTRLD" "Diabetic Glomerulosclerosis" + "DMII RENAL UNCNTRLD" "Kimmelstiel Wilson Disease" "Renal disorder associated with diabetes mellitus" "Nodular Glomerulosclerosis" @@ -108610,13 +108611,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" + "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" - "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -108665,10 +108666,10 @@ "AML, GF-1 Gene Mutation" "AML, GATA1 gene mutation" "AML, NF-E1 Gene Mutation" + "self reported health" "cAIHA" "cAHA" "cold AIHA" - "self reported health" "blood serum sulfotransferase 2A1 amount" "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" @@ -108951,8 +108952,8 @@ "TB - Tuberculosis" "Tuberculosis of other specified organs" "Tuberculoma (finding)" - "DLBCL" "DLBCL" + "DLBCL" "diffuse large B-cell lymphoma" "blood serum LIM domain transcription factor LMO4 amount" "ulceration of vulva" @@ -109080,9 +109081,9 @@ "Wedge shaped cranium" "Triangular cranium shape" "Wedge shaped skull" + "Christian syndrome" "Triple H syndrome" "HHH syndrome" - "Christian syndrome" "SPG41" "isolated congenitally uncorrected transposition of the great vessels" "not genetically inherited" @@ -109267,8 +109268,6 @@ "Hypotonia, in neonatal onset" "Low muscle tone, in neonatal onset" "Hypotonia, neonatal" - "vertebral ossification, defect in, with nephrogenic rests" - "diaphanospondylodysostosis" "undifferentiated thyroid tumour" "thyroid gland undifferentiated (anaplastic) carcinoma" "Dedifferentiated thyroid gland carcinoma" @@ -109293,6 +109292,8 @@ "anaplastic thyroid carcinoma" "undifferentiated carcinoma of thyroid" "anaplastic carcinoma of the thyroid gland" + "vertebral ossification, defect in, with nephrogenic rests" + "diaphanospondylodysostosis" "Upper extremities spasticity" "Spasticity of upper limb" "Spasticity of upper extremity" @@ -109706,11 +109707,11 @@ "Erucic acid" "lung aspergillosis" "pulmonary aspergilloma" - "SCAR3" "pediatric medulloblastoma" "medulloblastoma of childhood" "paediatric medulloblastoma" "childhood medulloblastoma" + "SCAR3" "SK4" "SK-GT-4" "blood serum campesterol 3-beta-D-glucoside amount" @@ -110237,13 +110238,13 @@ "bladder signet ring cell adenocarcinoma" "urinary bladder signet Ring adenocarcinoma" "urinary bladder signet ring cell carcinoma" - "Cystic medial necrosis of aorta" - "Annuloaortic ectasia" - "Erdheim disease" "PTEN malignant glioma" "malignant glioma caused by mutation in PTEN" "glioma susceptibility 2" "glioma susceptibility type 2" + "Cystic medial necrosis of aorta" + "Annuloaortic ectasia" + "Erdheim disease" "spermatogenic failure 51" "SPGF51" "PMLD1" @@ -110561,11 +110562,11 @@ "Cestoda disease or disorder" "cestode infection" "perennial ryegrass" - "Langerhans cell sarcoma" - "sarcoma of Langerhans cell" "Alsin-related motor neuron disease" "Republic of Korea"@en "Republic of Korea" + "Langerhans cell sarcoma" + "sarcoma of Langerhans cell" "blood serum protein FAM163B amount" "blood serum selenoprotein M amount" "physiological sexual dysfunction" @@ -110790,10 +110791,10 @@ "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" - "N-(4-hydroxyphenyl)acetamide" - "Paracetamol" "SCASI" "SCAR4" + "N-(4-hydroxyphenyl)acetamide" + "Paracetamol" "tibial adamantinoma morphology" "tibia long bone adamantinoma" "adamantinoma of tibia" @@ -111058,10 +111059,10 @@ "transthyretin " "blood ketohexokinase amount" "classical mantle cell lymphoma" - "LCM" "LCM" - "MCL" + "LCM" "MCL" + "MCL" "mantle cell lymphoma" "mantle zone lymphoma" "Clayton Smith-Donnai syndrome" @@ -111124,8 +111125,8 @@ "L-alloisoleucine" "blood serum tudor-interacting repair regulator protein amount" "GM17189 cell" - "kidney (renal) cancer" "kidney cancer" + "kidney (renal) cancer" "kidney (including renal cell) cancer" "renal cancer" "carcinoma of kidney" @@ -111469,8 +111470,6 @@ "isolated diffuse palmoplantar hyperkeratosis" "isolated diffuse keratosis palmoplantaris" "nonsyndromic diffuse palmoplantar keratoderma" - "meningeal layer" - "layer of meninges" "multiple glomus tumors" "hereditary glomangioma" "familial glomangioma" @@ -111479,6 +111478,8 @@ "glomuvenous malformation" "VMGLOM" "multiple glomus tumours" + "meningeal layer" + "layer of meninges" "Gastrula:50%-epiboly" "Aeromonas hydrophila infectious disease" "Aeromonas hydrophila caused disease or disorder" @@ -111494,15 +111495,15 @@ "Functional Gastrointestinal Disorder" "RECTAL & ANAL DIS NEC" "DISEASES OF THE DIGESTIVE SYSTEM" + "gastroenterological system disease" "GIT diseases" "System Diseases, Digestive" "System Disease, Digestive" "Digestive System Diseases" - "gastroenterological system disease" "[X]Other diseases of intestines (disorder)" "Digestive system diseases NOS" - "Gastrointestinal Disease" "OTHER DISEASES OF INTESTINES AND PERITONEUM" + "Gastrointestinal Disease" "disorder of digestive system" "[X]Other diseases of intestines" "Other gallbladder disorders" @@ -111566,7 +111567,6 @@ "sn-Glycerol 3-phosphate" "sn-glycerol 3-(dihydrogen phosphate)" "(2R)-2,3-dihydroxypropyl dihydrogen phosphate" - "CBC with Diff" "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" "HSP-TCC" "SPG11 hereditary spastic paraplegia" @@ -111578,6 +111578,7 @@ "hereditary spastic paraplegia type 11" "autosomal recessive spastic paraplegia complicated with thin corpus callosum" "autosomal recessive spastic paraplegia type 11" + "CBC with Diff" "blood serum MIT domain-containing protein 1 amount" "eastern oyster" "Crassotrea virginica" @@ -112026,10 +112027,10 @@ "girdle - pectoral" "Shoulder girdle" "shoulder bones" - "inherited myotonic dystrophy" "Tufting enteropathy" "IED" "Congenital familial intractable diarrhea with epithelial or epithelium abnormalities" + "inherited myotonic dystrophy" "Foetal distress" "Worster-Drought syndrome" "congenital suprabulbar paresis" @@ -112377,7 +112378,6 @@ "hyperopia, high" "tgd.vg5+.IEL" "NPC/HK1" - "HPFH - beta-thalassemia" "CDG syndrome type IIh" "CDG2H" "congenital disorder of glycosylation type 2h" @@ -112386,6 +112386,7 @@ "congenital disorder of glycosylation type IIh" "carbohydrate deficient glycoprotein syndrome type IIh" "COG8-congenital disorder of glycosylation" + "HPFH - beta-thalassemia" "blood cell division cycle protein 123 amount" "atherosclerosis of aorta" "aorta atherosclerosis" @@ -112532,8 +112533,6 @@ "PEX1 related Zellweger spectrum disorder" "thyroid hormone metabolism" "HCC-3153" - "lateral cord glia" - "distal myopathy, autosomal recessive" "borderline epithelial tumor of the ovary" "epithelial neoplasm of ovary of borderline malignancy" "borderline epithelial tumour of the ovary" @@ -112564,6 +112563,8 @@ "borderline ovarian epithelial tumor" "epithelial tumor of the ovary of borderline malignancy" "ovarian borderline malignant tumour" + "lateral cord glia" + "distal myopathy, autosomal recessive" "VDDR2" "VDDR II" "hypocalcemic vitamin D-resistant rickets" @@ -112612,13 +112613,13 @@ "blood apolipoprotein A-II amount" "blood serum Ras-related protein Rab-21 amount" "5-({4-[(2,3-dimethyl-2H-indazol-6-yl)(methyl)amino]pyrimidin-2-yl}amino)-2-methylbenzenesulfonamide" - "SCAR15" - "Autosomal recessive spinocerebellar ataxia type 15" "multiple synostoses syndrome type 2" "multiple synostoses syndrome 2" "multiple synostoses syndrome caused by mutation in GDF5" "GDF5 multiple synostoses syndrome" "blood serpin B8 amount" + "SCAR15" + "Autosomal recessive spinocerebellar ataxia type 15" "blood M-phase phosphoprotein 8 amount" "Thumb brachydactyly" "Short thumb" @@ -112771,9 +112772,9 @@ "dourine" "Covering disease" "Dourine" + "blood citron Rho-interacting kinase amount" "Bacteria skin disease caused by infection" "Bacteria caused skin disease caused by infection" - "blood citron Rho-interacting kinase amount" "anterior kidney" "kidney marrow" "Frankia alni strain ACN14a" @@ -112926,10 +112927,10 @@ "X-linked mental retardation with epilepsy" "Citrobacter genomospecies 9" "Citrobacter sp. biovar 4280" - "FPLD3" - "Familial partial lipodystrophy type 3" "trisomy type 12p" "Duplication 12p" + "FPLD3" + "Familial partial lipodystrophy type 3" "ES-D3 cell" "D3" "D3 cell" @@ -113506,10 +113507,10 @@ "Frequent broken bones" "Increased bone fragility" "Abnormal susceptibility to fractures" + "blood elongin-B amount" "nonsyndromic punctate palmoplantar keratoderma" "isolated punctate palmoplantar hyperkeratosis" "isolated punctate PPK" - "blood elongin-B amount" "GM17179 cell" "craniofacial anomalies and anterior segment dysgenesis syndrome" "phosphatidylcholine 40:5" @@ -113762,8 +113763,8 @@ "ALCOHOLIC INTOX CHRONIC" "Alcohol Abuse" "Abuse, Alcohol" - "Neurodegeneration with brain iron accumulation due to COASY mutation" "CoPAN" + "Neurodegeneration with brain iron accumulation due to COASY mutation" "NBIA6" "CYP7B1 congenital bile acid synthesis defect" "congenital bile acid synthesis defect caused by mutation in CYP7B1" @@ -113951,24 +113952,23 @@ "adenoid cystic carcinoma of the major salivary gland" "major salivary gland adenoid cystic cancer" "Kleiner-Holmes syndrome" - "disease or disorder of lower respiratory tract" - "lower respiratory tract disorder" - "disorder of lower respiratory tract" - "lower respiratory tract disease" - "lower respiratory tract disease or disorder" - "disease of lower respiratory tract" "disease due to Reoviridae (disorder)" "disease due to Reovirus (disorder)" "Reoviridae Infections" "disease due to Orthoreovirus" "Reoviridae disease" "Reoviridae infectious disease" + "disease or disorder of lower respiratory tract" + "lower respiratory tract disorder" + "disorder of lower respiratory tract" + "lower respiratory tract disease" + "lower respiratory tract disease or disorder" + "disease of lower respiratory tract" "blood serum SWI/SNF complex subunit SMARCC1 amount" "Blood clot in portal vein" "arylsulfatase B" "N-acetylgalactosamine-4-sulphatase activity" "blood serum nucleosome assembly protein 1-like 2 amount" - "Salti-Salem syndrome" "Dracunculus medinensis disease or disorder" "dracontiasis" "Dracontiasis" @@ -113983,9 +113983,10 @@ "infection by Dracunculus medinensis" "Dracunculiasis" "medinensis" + "Salti-Salem syndrome" + "blood serum glutamate receptor ionotropic, kainate 2 amount" "poikiloderma-alopecia-retrognathism-cleft palate syndrome" "PARC syndrome" - "blood serum glutamate receptor ionotropic, kainate 2 amount" "Infection due to E. rhusiopathiae" "Erysipeloid" "Erysipelothrix disease (disorder)" @@ -114817,11 +114818,11 @@ "malignant tumor of the thorax" "malignant neoplasm of the thorax" "cancer of thoracic segment of trunk" - "Pelger-Huet anomaly with mild skeletal anomalies" "absent eyebrows and eyelashes-intellectual disability syndrome" "pseudoprogeria syndrome" "eyebrows and eyelashes absence-intellectual disability syndrome" "Hal-Berg-Rudolph syndrome" + "Pelger-Huet anomaly with mild skeletal anomalies" "GM08398 cell" "spermatogenic failure 23" "lissencephaly type 2" @@ -115261,11 +115262,11 @@ "Tuberculosis, Renal" "Tuberculosis of kidney" "tuberculosis of kidney" - "fibroblastic disease" "Tyrosine hydroxylase-deficient dopa-responsive dystonia" "Tyrosine hydroxylase deficiency" "DYT5b" "Autosomal recessive Segawa syndrome" + "fibroblastic disease" "memory B-cell" "memory B lymphocyte" "memory B-lymphocyte" @@ -116520,8 +116521,8 @@ "respiratory tract aspiration" "Melampsora laricis-populina" "Melampsora laricipopulina" - "blood serum catechol O-methyltransferase amount" "mesenchymal chondrosarcoma" + "blood serum catechol O-methyltransferase amount" "blood serum pregnancy-specific beta-1-glycoprotein 8 amount" "Warburg micro syndrome" "WARBM" @@ -116657,13 +116658,15 @@ "classic Hodgkin lymphoma, mixed cellularity type" "Mixed cellularity Classic Hodgkin lymphoma" "mixed cellularity Hodgkin's disease" - "MCCHL" "MCCHL" + "MCCHL" "mixed cellularity Hodgkin's lymphoma" "Hodgkin's disease mixed cellularity" "Fusion of teeth" "Joined teeth" "Fused teeth" + "Total Plasma Cells" + "PLSTCE" "tumor of small intestine" "tumor of small bowel" "small bowel tumor" @@ -116684,8 +116687,6 @@ "small intestine neoplasm (disease)" "tumour of the small bowel" "small bowel neoplasm" - "Total Plasma Cells" - "PLSTCE" "High blood glucose" "hyperglycaemia" "High blood sugar" @@ -116768,11 +116769,11 @@ "dermatophytosis of scalp and beard" "scalp dermatophytosis" "tinea capitis due to Trichophyton rubrum" + "body of uterus endometrial carcinoma (disease)" + "endometrial carcinoma (disease) of body of uterus" "ciguatera fish poisoning" "Ciguatera fish poisoning" "ciguatoxin causing toxic effect" - "body of uterus endometrial carcinoma (disease)" - "endometrial carcinoma (disease) of body of uterus" "Caulobacter vibrioides Henrici and Johnson 1935" "Caulobacter crescentus Poindexter 1964" "Caulobacter crescentus" @@ -117305,17 +117306,17 @@ "pharyngeal squam. cell carcinoma" "blood serum endophilin-B1 amount" "blood cell surface hyaluronidase CEMIP2 amount" + "perinatal jaundice due to hepatocellular damage" "insulin secretion rate measurement" "group A streptococci" "Streptococcus sp. (group A)" "group A streptococcus" - "perinatal jaundice due to hepatocellular damage" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" - "SOFM" "tyrosinemia type III" "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" "tyrosinemia due to HPD deficiency" + "SOFM" "PEPCK deficiency" "phosphoenolpyruvate carboxykinase (GTP) deficiency" "peripheral motor neuropathy" @@ -117323,8 +117324,8 @@ "Chromosome 9 Ring" "Ring chromosome type 9" "Respiratory Muscles" - "Alkuraya-Kucinskas syndrome" "blood serum INO80 complex subunit E amount" + "Alkuraya-Kucinskas syndrome" "Wilms' tumour" "Wilms' tumor" "Wilms tumor" @@ -117369,13 +117370,13 @@ "AML, Monosomy 5" "Müllerian duct failure" "Aplasia of the Müllerian ducts" + "LPE 18:0" "adult Bartter syndrome" "BARTS3" "classic Bartter syndrome" "Bartter syndrome type 3" "Bartter syndrome type III" "Bartter disease type 3" - "LPE 18:0" "blood serum epididymal secretory protein E3-beta amount" "susceptibility to varicella zoster virus infection measurement" "tibial longitudinal meromelia, bilateral" @@ -117703,23 +117704,24 @@ "EIEE8" "early infantile epileptic encephalopathy 8" "pmol" + "trophoblastic neoplasm" "tumour of trophoblast" "trophoblastic tumour (qualifier value)" "trophoblast tumour" "trophoblastic tumour" "neoplasm of trophoblast" - "trophoblastic neoplasms" "tumor of trophoblast" + "trophoblastic neoplasms" "trophoblastic tumor (qualifier value)" "trophoblast neoplasm" "trophoblastic neoplasm NOS (morphologic abnormality)" "trophoblast neoplasm (disease)" "trophoblastic tumor" "trophoblastic neoplasm (morphologic abnormality)" - "trophoblastic neoplasm" "trophoblast tumor" "3-(10,11-dihydro-5H-dibenzo[a,d][7]annulen-5-ylidene)-N,N-dimethylpropan-1-amine" "Amitriptyline" + "response to oxygen therapy" "OVARY NEOPL" "Ovary Neoplasm" "ovarian tumour" @@ -117747,7 +117749,6 @@ "Ovarian Neoplasms" "ovary neoplasm" "Elevated C-reactive protein level" - "response to oxygen therapy" "(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraene-3,25-diol" "25-hydroxyvitamin D2" "intellectual developmental disorder, autosomal recessive 40" @@ -117837,11 +117838,11 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" + "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" "Plasmablast" "PLSPCE" - "CASP8" "non-infectious iridocyclitis" "Bacteroides gingivalis" "ABOLM" @@ -117903,9 +117904,9 @@ "MYH9-related syndrome" "MYH9-RD" "blood serum chordin amount" + "GRO:0005131" "blood serum DNA-directed RNA polymerase III subunit RPC9 amount" "blood serum intestinal alkaline phosphatase amount" - "GRO:0005131" "Thlaspi caerulescens" "chronic eustachian tube salpingitis" "otosalpingitis, chronic" @@ -118679,10 +118680,10 @@ "Kleefstra syndrome due to del(9)(q34)" "9qSTDS" "Kleefstra syndrome due to monosomy 9q34" - "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "HSV encephalitis" "Herpes simplex neuroinvasion" "Herpes simplex encephalitis" + "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "blood serum coenzyme Q-binding protein COQ10 homolog A, mitochondrial amount" "Young-Hugues syndrome" "GM17203 cell" @@ -118746,11 +118747,11 @@ "Macrogyria" "Cerebral pachygyria" "LGMD1D" - "primary diffuse large B-cell gastric lymphoma" "primary diffuse large B-cell lymphoma of the stomach" "primary gastric diffuse large B-cell lymphoma" "gastric diffuse large B-cell lymphoma" "primary diffuse large B-cell lymphoma of stomach" + "primary diffuse large B-cell gastric lymphoma" "blood methylmalonyl-CoA mutase, mitochondrial amount" "Meige syndrome" "Meige dystonia" @@ -119136,8 +119137,8 @@ "chronic myelogenous leukemia (CML)" "chronic granulocytic leukemia" "chronic myelogenous leukemia, BCR-ABL1 positive" - "CML" "CML" + "CML" "myeloid leukemia, chronic" "CML - chronic myelogenous leukaemia" "hematopoeitic - chronic myelocytic leukaemia (CML)" @@ -119319,8 +119320,8 @@ "Bowed long bones" "blepharophimosis types 1 and 2 due to a point mutation" "vaginal enterocele" - "goiter, multinodular" "blood serum endothelial lipase amount" + "goiter, multinodular" "blood serum EP300-interacting inhibitor of differentiation 3 amount" "laryngo-tracheo-esophageal diastema" "laryngo-tracheo-esophageal cleft" @@ -119523,8 +119524,8 @@ "Global run-on sequencing" "Genomic run-on sequencing" "guttate psoriasis" - "GM17801 cell" "CSF clusterin measurement" + "GM17801 cell" "blood serum high mobility group protein B3 amount" "disease or disorder of ventral horn of spinal cord" "disease of ventral horn of spinal cord" @@ -119723,8 +119724,8 @@ "limb-girdle muscular dystrophy due to FKRP deficiency" "LGMD-FKRP related" "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" - "blood serum protein FAM221A amount" "blood ribonuclease H2 subunit A amount" + "blood serum protein FAM221A amount" "GM17797 cell" "software_variation_design" "Eastern white pine" @@ -120093,8 +120094,8 @@ "kidney leiomyoma" "renal leiomyoma" "blood serum pro-neuregulin-2, membrane-bound isoform amount" - "blood serum MHC class I histocompatibility antigen C alpha chain amount" "blood scavenger receptor cysteine-rich domain-containing group B protein amount" + "blood serum MHC class I histocompatibility antigen C alpha chain amount" "brain pediatric meningioma" "pediatric meningioma of the brain" "brain paediatric meningioma" @@ -120364,13 +120365,13 @@ "glucocorticoid therapy, response to" "Delta granule disease" "secondary hypertension" - "Lowry syndrome" "disorder of aortic valve" "aortic valve disease or disorder" "aortic valve disorder" "disease of aortic valve" "aortic valve disease" "disease or disorder of aortic valve" + "Lowry syndrome" "Kimura's disorder" "Kimura disease" "eosinophilic lymphogranuloma" @@ -120512,9 +120513,9 @@ "Psoriasis and similar disorders" "Psoriasis and similar disorders (navigational concept)" "PUSTULAR PSORIASIS OF PALMS SOLES" + "psoriasis" "Pustulosis of Palms and Soles" "Other psoriasis and similar disorders (disorder)" - "psoriasis" "OTHER PSORIASIS" "Other psoriasis and similar disorders" "PITYRIASIS NEC & NOS" @@ -120634,8 +120635,8 @@ "carcinoma of liver cells" "hepatocellular adenocarcinoma" "liver cell carcinoma" - "HCC" "HCC" + "HCC" "primary carcinoma of liver cells" "carcinoma of the liver cells" "hepatocellular carcinoma, somatic" @@ -120671,10 +120672,10 @@ "disorder of organic acid metabolism" "organic acid metabolism disorder" "disorder of organic acid metabolic process" - "WABS" "Prochlorococcus sp. MIT9313" "Prochlorococcus sp. MIT 9313" "Prochlorococcus marinus MIT9313" + "WABS" "HCHWA, Flemish type" "postherpetic neuralgia" "Cranio-facio-digito-genital syndrome" @@ -120722,8 +120723,8 @@ "germ cell tumors, somatic" "testis germ cell tumor" "testicular germ cell neoplasm" - "TGCT" "TGCT" + "TGCT" "germ cell neoplasm of the testis" "testicular germ cell tumor" "germ cell tumour of testis" @@ -120920,7 +120921,6 @@ "blood serum protein notum amount" "[Clostridium] difficile" "Bacillus difficilis" - "RM82" "GM17802 cell" "time_series_design" "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" @@ -120932,6 +120932,7 @@ "STWS" "neonatal Schwartz-Jampel syndrome" "Schwartz-Jampel syndrome type 2" + "RM82" "Scotch pine" "Scots pine" "blood peptidyl-prolyl cis-trans isomerase FKBP1B amount" @@ -120989,6 +120990,7 @@ "Decreased cervical height" "Decreased cervical length" "Short neck" + "blood serum (E)-isoheptadec-2-enoyl-CoA amount" "follicular adenoma of thyroid" "thyroid gland follicular adenoma" "thyroid adenoma (disease)" @@ -121008,7 +121010,6 @@ "thyroid adenoma" "thyroid follicle adenoma" "megalencephaly, autosomal dominant" - "blood serum (E)-isoheptadec-2-enoyl-CoA amount" "GM17296 cell" "blood serum synapsin-3 amount" "Ostravik-Lindemann-Solberg syndrome" @@ -121386,8 +121387,8 @@ "syringocystadenoma papilliferum" "papillary syringadenoma (morphologic abnormality)" "naevus syringocystadenomatosus papilliferus" - "SCAP" "SCAP" + "SCAP" "fistulous vegetative verrucous hydradenoma" "papillary Syringadenoma (syringocystadenoma papilliferum)" "papillary syringocystadenoma" @@ -122027,14 +122028,14 @@ "autosomal recessive cutis laxa type 1C" "ARCL1C" "Urban-Rifkin-Davis syndrome" + "arterial occlusion" + "arterial obstruction" + "blood Rho guanine nucleotide exchange factor 12 amount" "Lips, Cleft" "Cleft Lips" "Harelips" "Harelip" "Lip, Cleft" - "arterial occlusion" - "arterial obstruction" - "blood Rho guanine nucleotide exchange factor 12 amount" "blood serum Polycomb complex protein BMI-1 amount" "RP94" "NFU1 deficiency" @@ -122287,6 +122288,7 @@ "sialolith" "Salivary gland Stone" "sialolithiasis" + "GM17803 cell" "Linear IgA IgG Dermatosis" "linear IgA Dermatosis" "Linear IgA bullous dermatosis" @@ -122294,7 +122296,6 @@ "Chronic Bullous Disease of Childhood" "Linear IgA IgG Bullous Dermatosis" "Drug-induced Linear IgA Dermatosis" - "GM17803 cell" "blood serum kinesin-like protein KIF3C amount" "SPG27" "4,6-diamino-3-[3-deoxy-4-C-methyl-3-(methylamino)pentopyranosyloxy]-2-hydroxycyclohexyl 2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)heptopyranoside" @@ -122612,9 +122613,9 @@ "ACS" "Schinzel acrocallosal syndrome" "ACLS" - "4-ethylphenyl hydrogen sulfate" "ush" "Usher's syndrome" + "4-ethylphenyl hydrogen sulfate" "Tribenuron methyl" "methyl 2-{[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)carbamoyl]sulfamoyl}benzoate" "Cousin syndrome" @@ -122810,8 +122811,8 @@ "SM-AHN" "SM-AHN" "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" - "SMAHN" "SMAHN" + "SMAHN" "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" @@ -123158,9 +123159,9 @@ "hemangioma of peripheral nerve" "hemangioma of nerve" "nerve hemangioma" - "FRACtionation and high throughput RNA SEQuencing" "viviparous blenny" "Blennius viviparus" + "FRACtionation and high throughput RNA SEQuencing" "impulse-control disorder" "ICD" "pachyonychia congenita, Jadassohn-Lewandowsky type" @@ -123381,10 +123382,10 @@ "helper T-cell" "helper T lymphocyte" "blood serum proteasome subunit beta type-2 amount" - "Sex reversion - kidneys, adrenal and lung dysgenesis" "germinoma of brain" "germinoma of the brain" "brain germinoma (disease)" + "Sex reversion - kidneys, adrenal and lung dysgenesis" "malignant bone marrow tumour" "bone marrow cancer" "malignant neoplasm of bone marrow" @@ -123424,6 +123425,7 @@ "lymphoma, plasmacytic" "lymphoplasmacytoid lymphoma" "lymphoma, lymphoplasmacytic, malignant" + "acquired hemoglobinopathy" "mandibular cancer" "malignant neoplasm of lower jaw bone" "malignant neoplasm of inferior maxilla" @@ -123431,13 +123433,12 @@ "cancer of mandible" "malignant neoplasm of mandible" "malignant mandible neoplasm" - "acquired hemoglobinopathy" "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" "PCCA" - "NK.49D-.Sp" "Fv1^b" "FVB/N" "Friend Virus B" + "NK.49D-.Sp" "telencephalic ventricle" "lateral ventricle" "lateral ventricles" @@ -123501,8 +123502,8 @@ "congenital hematological system disease" "congenital hematological disorder" "blood serum protein MENT amount" - "blood serum serine/threonine-protein kinase tousled-like 1 amount" "SPG28" + "blood serum serine/threonine-protein kinase tousled-like 1 amount" "vascular insufficiency" "Abnormality of the mastoid" "Abnormality of mastoid process of temporal bone" @@ -123551,9 +123552,9 @@ "Adult-onset PLS" "blood protein FosB amount" "CA 50 measurement" - "skin of eyelid benign neoplasm" "SRP" "short-rib dysplasia (with or without polydactyly)" + "skin of eyelid benign neoplasm" "mental retardation syndrome, X-linked, Armfield type" "mental retardation syndrome, X-linked, armfield type, X-linked recessive" "MRXSA" @@ -123941,7 +123942,6 @@ "Early infantile epileptic encephalopathy with suppression-bursts" "Ohtahara syndrome" "blood serum oxidized purine nucleoside triphosphate hydrolase amount" - "Prieto-Badia-Mulas syndrome" "neoplasm of trochlear nerve" "neoplasm of the trochlear nerve" "fourth cranial nerve neoplasm" @@ -123969,6 +123969,7 @@ "tumour of trochlear nerve" "fourth cranial nerve tumours" "trochlear nerve neoplasms" + "Prieto-Badia-Mulas syndrome" "Transitional PMD" "renal tubule disease" "renal tubular disorder" @@ -124098,8 +124099,8 @@ "GSD due to muscle and heart glycogen synthase deficiency" "glycogenosis type 0b" "heart glycogen storage disease due to glycogen synthase deficiency" - "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" "blood serum transcriptional regulator Kaiso amount" + "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" "Congenital chronic diarrhea with exudative enteropathy" "Hageman factor deficiency" "Factor XII deficiency" @@ -124146,10 +124147,10 @@ "Infertility" "adult antenna" "feeler" + "GM14532 cell" "basal ganglia cerebrovascular disorder" "collection of basal ganglia cerebrovascular disorder" "cerebrovascular disorder of collection of basal ganglia" - "GM14532 cell" "platelet abnormality" "platelet disorder" "neutropenic disorder" @@ -124554,8 +124555,8 @@ "cerebral sarcoma" "Creatine" "N-[amino(imino)methyl]-N-methylglycine" - "central hearing loss" "Chang-Davidson-Carlson syndrome" + "central hearing loss" "distal monosomy 7q11.23" "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" "distal del(7)(q11.23)" @@ -124789,10 +124790,10 @@ "response to 2',2'-difluorodeoxycytidine" "frontal lobe epilepsy" "epilepsy of frontal lobe" + "pharyngeal pouches 2" "blepharitis" "inflammation of eyelid" "eyelid inflammation" - "pharyngeal pouches 2" "cystitis, chronic" "chronic cystitis" "Other chronic cystitis" @@ -125121,8 +125122,8 @@ "intraductal carcinoma" "non-invasive ductal breast adenocarcinoma" "non-infiltrating intraductal adenocarcinoma" - "DCIS" "DCIS" + "DCIS" "mammary duct carcinoma in situ" "non-invasive ductal adenocarcinoma of breast" "non-invasive intraductal breast adenocarcinoma" @@ -125587,9 +125588,9 @@ "Insulin-resistant diabetes mellitus AND acanthosis nigricans" "Type 2 diabetes mellitus with acanthosis nigricans (disorder)" "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" - "blood serum secretory carrier-associated membrane protein 5 amount" "Gastric Outlet Obstruction" "gastric outflow obstruction" + "blood serum secretory carrier-associated membrane protein 5 amount" "blood serum heat shock protein HSP 90-alpha amount" "blood serum proteasome subunit beta type-3 amount" "cytoplasm component" @@ -125720,11 +125721,11 @@ "blood frizzled-8 amount" "neuromast infraorbital" "neuromasts infraorbital" + "level of Cer(d40:1) in blood serum" + "blood serum Cer(d40:1) amount" "compound screen" "compound library screening" "compound library screen" - "level of Cer(d40:1) in blood serum" - "blood serum Cer(d40:1) amount" "blood serum immunoglobulin kappa variable 1-5 (human) amount" "Aspartoacylase deficiency" "ACY2 deficiency" @@ -126368,6 +126369,9 @@ "skin of eyelid cancer" "cancer of skin of eyelid" "malignant neoplasm of skin of eyelid" + "DEE100" + "developmental and epileptic encephalopathy 100" + "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "neoplasm of the paraganglion" "paraganglion tumour" "paraganglioma" @@ -126382,9 +126386,6 @@ "tumor of the paraganglion" "tumour of paraganglion" "paraganglion neoplasm" - "DEE100" - "developmental and epileptic encephalopathy 100" - "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "thoracic aortic raised lesions" "acquired hemangioma" "Absent/underdeveloped tailbone" @@ -126522,6 +126523,8 @@ "3-(carbamoylamino)propanoic acid" "N-Carbamoyl-beta-alanine" "N-carbamoyl-beta-alanine" + "neuromuscular disease" + "nerve and muscle disorder" "syndromic microphthalmia type 7" "linear skin defects with multiple congenital anomalies" "MCOPS7" @@ -126530,8 +126533,6 @@ "microphthalmia with linear skin defects syndrome" "MIDAS syndrome" "linear skin defects with multiple congenital anomalies type 1" - "neuromuscular disease" - "nerve and muscle disorder" "Mental Deficiency" "Disability, Intellectual" "Intellectual Disability" @@ -127108,8 +127109,8 @@ "anterior temporal lobe" "area 38 of Brodmann" "area temporopolaris" - "Brodmann area 38" "Brodmann (1909) area 38" + "Brodmann area 38" "BA38" "temporopolar area 38" "B09-38" @@ -127187,9 +127188,9 @@ "pituitary gland disease" "pituitary gland disease or disorder" "disease or disorder of pituitary gland" + "Genetic anterior horn cell disease" "initial segment of nerve" "radix nervi" - "Genetic anterior horn cell disease" "hereditary spastic paraplegia caused by mutation in SPAST" "hereditary spastic paraplegia 4" "autosomal dominant spastic paraplegia type 4" @@ -127215,8 +127216,8 @@ "chondrosarcoma (disease) of periosteum" "periosteum chondrosarcoma (disease)" "juxtacortical chondrosarcoma" - "blood serum microtubule nucleation factor SSNA1 amount" "CMT2A1" + "blood serum microtubule nucleation factor SSNA1 amount" "craniotelencephalic dysplasia" "blood serum motor neuron and pancreas homeobox protein 1 amount" "Charcot-Marie-Tooth neuropathy type 2T" @@ -127760,11 +127761,11 @@ "Familial Hibernian fever" "TRAPS syndrome" "HCC-1954" + "Novak syndrome" "blood serum coiled-coil domain-containing protein 69 amount" "ISS" "Transverse earlobe creases" "Earlobe crease" - "Novak syndrome" "Streptococcus sanguis" "knee region" "blood serum homeobox protein OTX1 amount" @@ -127864,19 +127865,19 @@ "N-Acetyl-L-tyrosine measurement" "phosphatidylcholine 32:0" "culture supernatant" - "Leukotriene C4 synthase deficiency" - "LTC4 synthase deficiency" "Cardiac leiomyosarcoma" "leiomyosarcoma of the heart" "leiomyosarcoma of heart" "heart leiomyosarcoma" + "Leukotriene C4 synthase deficiency" + "LTC4 synthase deficiency" + "ALS26" "Morvan's fibrillary chorea" "MFC" "Morvan's syndrome" "Morvan syndrome" "MoS" "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" - "ALS26" "combined immunodeficiency due to LRBA deficiency" "CID due to LRBA deficiency" "skin diseases, fungal" @@ -127921,13 +127922,13 @@ "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" "RDEB generalisata gravis" "blood serum phospholipase DDHD2 amount" + "cholecystolithiasis" + "Cholecystolithiasis" "mastocytosis-short stature-hearing loss syndrome" "syndromic microphthalmia type 3" "anophthalmia/microphthalmia-esophageal atresia syndrome" "MCOPS3" "microphthalmia, syndromic type 3" - "cholecystolithiasis" - "Cholecystolithiasis" "ceroid lipofuscinosis, neuronal, type 5" "neuronal ceroid lipofuscinosis caused by mutation in CLN5" "CLN5 neuronal ceroid lipofuscinosis" @@ -128285,8 +128286,8 @@ "adrenal gland pheochromocytoma" "chromaffin paraganglioma of the adrenal gland" "adrenal medullary paraganglioma" - "PCC" "PCC" + "PCC" "adrenal gland Chromaffinoma" "BMT" "PPH1" @@ -128472,7 +128473,6 @@ "Del(19)(q13.11)" "19q13.11 microdeletion syndrome" "monosomy 19q13.11" - "small vessel cerebrovascular disease" "trichogenic trichoblastoma" "trichoepithelioma, benign" "trichoblastoma" @@ -128481,18 +128481,19 @@ "trichogenic adnexal tumor" "Brooke's tumour" "trichogenic adnexal tumour" + "small vessel cerebrovascular disease" "3-sulfino-L-alanine" "3-Sulfino-L-alanine" "obesity-hypoventilation syndrome" - "Loeys-Dietz syndrome 5" - "Loeys-Dietz syndrome type 5" - "Rienhoff syndrome" - "Loeys-Dietz syndrome-5" - "LDS5" "Low plasma renin activity" "Decreased plasma renin activity" "Suppressed plasma renin activity" "Decreased circulating renin level" + "Loeys-Dietz syndrome 5" + "Loeys-Dietz syndrome type 5" + "Rienhoff syndrome" + "LDS5" + "Loeys-Dietz syndrome-5" "esophageal basaloid carcinoma" "basaloid squamous carcinoma of oesophagus" "esophageal basaloid cancer" @@ -128515,8 +128516,8 @@ "childhood leukaemia (disease)" "paediatric leukaemia (disease)" "childhood leukemia" - "(5alpha)-17-oxoandrostan-3alpha-yl hydrogen sulfate" "LPC 18:1" + "(5alpha)-17-oxoandrostan-3alpha-yl hydrogen sulfate" "oculodentodigital dysplasia" "oculo-dento-digital dysplasia" "Meyer-Schwickerath syndrome" @@ -128703,6 +128704,8 @@ "blood calmegin amount" "Curatolo-Cilio-Pessagno syndrome" "visceral myopathy-familial external ophthalmoplegia syndrome" + "hepatitis B virus-related hepatocellular carcinoma" + "hepatitis B virus related hepatocellular carcinoma" "Peritonsillar Abscess" "Peritonsillar abscess" "peritonsillar abscess" @@ -128713,8 +128716,6 @@ "telencephalon septum" "septum (NN)" "septal area" - "hepatitis B virus-related hepatocellular carcinoma" - "hepatitis B virus related hepatocellular carcinoma" "Schinzel Giedion Syndrome" "Schinzel-Giedion syndrome" "SGS" @@ -128874,8 +128875,6 @@ "myopia 28, autosomal recessive" "MYP28" "paranasal sinus Schneiderian papilloma" - "MACS" - "MAC sorting" "kidney failure, acute" "acute kidney injury" "ARF" @@ -128883,6 +128882,8 @@ "AKI" "GM17240 cell" "blood sorting nexin-9 amount" + "MACS" + "MAC sorting" "blood serum variable charge X-linked protein 1 amount" "heart layer inflammation" "carditis" @@ -129636,11 +129637,11 @@ "lacrimal apparatus disorder" "Twenty-nail dystrophy" "Onychodystrophy totalis" - "blood serum zona pellucida sperm-binding protein 4 amount" "subdural abscess" "subdural empyema" "Empyema, Subdural" "Subdural abscess (disorder)" + "blood serum zona pellucida sperm-binding protein 4 amount" "LGMD2N" "MDDGC2" "LGMD-POMT2 related" @@ -129901,9 +129902,9 @@ "Acanthamoeba keratitis (disorder)" "rostral division of the internal carotid artery" "CrDI" - "1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine" "partial sensory epilepsy" "Epilepsy, Partial, Sensory" + "1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine" "adult yolk Sac neoplasm" "adult endodermal sinus neoplasm" "adult yolk Sac tumor" @@ -129916,11 +129917,11 @@ "tetrachloromethane" "3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine" "Imipramine" - "blood replication factor C subunit 4 amount" "ALBGLOB" "Albumin/Globulin" "Albumin to Globulin Ratio Measurement" "albumin-globulin ratio measurement" + "blood replication factor C subunit 4 amount" "Absent muscle fibre dysferlin" "epilepsy, progressive myoclonic, 11" "EPILEPSY, PROGRESSIVE MYOCLONIC, 11" @@ -130189,9 +130190,9 @@ "lipoma of colon" "lipoma of the colon" "colonic lipoma" + "high bone mass OI" "brown mustard" "Indian mustard" - "high bone mass OI" "bile duct squamous cell carcinoma" "extrahepatic bile duct squamous cell carcinoma" "squamous cell carcinoma of the bile duct" @@ -130606,13 +130607,13 @@ "congenital disorder of glycosylation type 1b" "resistance to thyroid stimulating hormone" "familial non-immune hyperthyroidism" + "congenital disorder of glycosylation type I" + "congenital disorders of glycosylation, type I" "blood C-Maf-inducing protein amount" "GM 2132" "GM02132C" "GM02132" "GM2132" - "congenital disorder of glycosylation type I" - "congenital disorders of glycosylation, type I" "blood serum glutamate decarboxylase 1 amount" "plasma" "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" @@ -130777,14 +130778,14 @@ "orthostatic intolerance due to NET deficiency" "orhtostatic intolerance" "familial orthostatic tachycardia due to norepinephrine transporter deficiency" - "blood serum cold-inducible RNA-binding protein amount" - "Macrocytic dyserythropoietic anaemia" - "blood serum NACHT, LRR and PYD domains-containing protein 1 amount" "stomach peptic ulcer" "peptic ulcer disease of stomach" "stomach peptic ulcer disease" "gastric ulcer" "gastric ulcer (disease)" + "blood serum cold-inducible RNA-binding protein amount" + "Macrocytic dyserythropoietic anaemia" + "blood serum NACHT, LRR and PYD domains-containing protein 1 amount" "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "MTO1 combined oxidative phosphorylation deficiency" "combined oxidative phosphorylation deficiency caused by mutation in MTO1" @@ -130998,8 +130999,8 @@ "BRSS" "Schilbach-Rott syndrome" "vascular network" - "somatic sensory cortex" "Chudley-Rozdilsky syndrome" + "somatic sensory cortex" "epidermoid cell tumor" "squamous cell neoplasm" "squamous cell tumour (qualifier value)" @@ -131208,8 +131209,8 @@ "Neoplasm, Uterus" "uterus neoplasm (disease)" "neoplasm of the uterus" - "uterine tumor" "Uterine Neoplasms" + "uterine tumor" "tumor of the uterus" "uterus tumour" "UTERUS NEOPL" @@ -131912,8 +131913,8 @@ "blood serum glutaminase kidney isoform, mitochondrial amount" "embryonal rhabdomyosarcoma (disease)" "rhabdomyosarcoma, somatic" - "ERMS" "ERMS" + "ERMS" "embryonal rhabdomyosarcoma" "rhabdomyosarcoma, embryonal, type 1" "secondary AVN" @@ -131990,12 +131991,12 @@ "Penicillium expasum" "spot desmosome" "macula adherens" - "western diamondback rattlesnake" "blood serum large ribosomal subunit protein mL64 amount" "Fungi caused poisoning" "Fungi poisoning" - "blood serum tubulin-specific chaperone cofactor E-like protein amount" + "western diamondback rattlesnake" "blood DNA-binding protein inhibitor ID-4 amount" + "blood serum tubulin-specific chaperone cofactor E-like protein amount" "panic disorder with agoraphobia" "Martsolf syndrome" "blood serum signal peptidase complex subunit 1 amount" @@ -132762,9 +132763,9 @@ "patellofemoral pain syndrome" "patellofemoral stress syndrome" "pulmonary alveolar proteinosis" - "ADMA measurement" "sleep wake disorder" "disorder of sleep-wake cycle" + "ADMA measurement" "blood serum prostaglandin E synthase 3 amount" "phosphatidylcholine O-42:5" "NMNAT1-related retinopathy" @@ -132776,8 +132777,8 @@ "intrahepatic carcinoma of the bile duct" "intrahepatic carcinoma of bile duct" "intrahepatic bile duct carcinoma" - "ICC" "ICC" + "ICC" "intrahepatic cholangiocarcinoma (bile duct cancer)" "partial deletion of the long arm of chromosome type 17" "partial deletion of chromosome 17q" @@ -132946,6 +132947,9 @@ "hand-foot-genital syndrome" "HFGS" "hand-foot-uterus syndrome" + "retinitis pigmentosa type 32" + "retinitis pigmentosa 32" + "RP32" "antebrachium" "antibrachium" "zeugopod of arm" @@ -132961,17 +132965,14 @@ "brachial region middle limb segment" "forelimb epipodium" "antebrachial region" - "zeugopod of proximal segment of free upper limb" "middle limb segment of proximal segment of free upper limb" "middle limb segment of forelimb" "forelimb zygopod" + "zeugopod of proximal segment of free upper limb" "middle limb segment of brachial region" "zeugopod of brachial region" "zeugopod of forelimb" "lower arm" - "retinitis pigmentosa type 32" - "retinitis pigmentosa 32" - "RP32" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" "TGP measurement" "non-small cell lung carcinoma (disease)" @@ -132980,8 +132981,8 @@ "non-small cell carcinoma of the lung" "NSCLC - non-small cell lung cancer" "non-small cell lung cancer" - "NSCLC" "NSCLC" + "NSCLC" "non-small cell cancer of the lung" "non-small cell cancer of lung" "11-beta-hydroxysteroid dehydrogenase deficiency type 1" @@ -133082,7 +133083,6 @@ "classic lattice corneal dystrophy" "LCDI" "lattice corneal dystrophy type 1" - "ovarian primitive germ cell tumor" "Kwashiorkor" "kwashiorkor" "nutritional edema with dyspigmentation of skin and hair" @@ -133092,6 +133092,7 @@ "Kwashiokor" "nutritional edema with dyspigmentation of skin and/or hair" "nutritional oedema with dyspigmentation of skin and/or hair" + "ovarian primitive germ cell tumor" "distal monosomy type 1q" "monosomy 1qter" "telomeric deletion 1q" @@ -133115,8 +133116,8 @@ "intraepithelial neoplasia of vulva" "vulvar intraepithelial tumour" "vulvar intraepithelial neoplasia" - "VIN" "VIN" + "VIN" "vulval intraepithelial neoplasia" "squamous vulvar intraepithelial neoplasia" "vulva intraepithelial neoplasia" @@ -133195,11 +133196,11 @@ "autosomal recessive oculodentodigital dysplasia" "blood U4/U6.U5 tri-snRNP-associated protein 1 amount" "blood formylglycine-generating enzyme amount" - "hyperparathyroidism" "SLC35D1-CDG" "schneckenbecken dysplasia" "chondrodysplasia with snail-like pelvis" "blood biotinidase amount" + "hyperparathyroidism" "cell membrane" "cellular membrane" "plasmalemma" @@ -133884,6 +133885,8 @@ "blood serum aldo-keto reductase family 1 member B10 amount" "blood V-type proton ATPase subunit G 1 amount" "phosphatidylcholine O-42:4" + "Lipid" + "lipids" "paediatric embryonal carcinoma of testis" "pediatric testicular embryonal carcinoma" "childhood embryonal carcinoma of the testis" @@ -133894,8 +133897,6 @@ "pediatric embryonal carcinoma of testis" "testicular embryonal carcinoma of childhood" "childhood testicular embryonal carcinoma" - "Lipid" - "lipids" "diazoxide-resistant hyperinsulinemic hypoglycemia" "fallopian tube papilloma" "fallopian tube serous papilloma" @@ -134028,12 +134029,12 @@ "distal trisomy type 22q" "distal duplication 22q" "telomeric duplication 22q" + "SPRET/Ei" "Sympathetic uveitis (disorder)" "Sympathetic uveitis" "Ophthalmia, Sympathetic" "sympathetic ophthalmia" "sympathetic uveitis" - "SPRET/Ei" "blood serum prostaglandin reductase 1 amount" "syndactyly, type 1, with or without craniosynostosis" "OFD5" @@ -134145,8 +134146,6 @@ "inborn error of sterol metabolic process" "rare inborn error of sterol metabolic process" "inborn sterol metabolic process disorder" - "Pelger-Huet anomaly" - "Pelger-Huet Anomaly" "malignant soft tissue tumor of CNS" "malignant soft tissue neoplasm of CNS" "malignant central nervous system soft tissue tumour" @@ -134173,6 +134172,8 @@ "malignant central nervous system soft tissue neoplasm" "central nervous system mesenchymal non-meningothelial tumor, malignant" "malignant CNS soft tissue neoplasm" + "Pelger-Huet anomaly" + "Pelger-Huet Anomaly" "Ullrich scleroatonic muscular dystrophy" "scleroatonic Ullrich disease" "UCMD" @@ -134356,16 +134357,16 @@ "camptosynpolydactyly, complex" "EDS, classic-like type" "Ehlers-Danlos syndrome, classic-like type" - "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T cell secreting IL-4" "afferent glomerular arteriole" "arteriola glomerularis afferens renis" "afferent glomerular arteriole of kidney" "kidney afferent arteriole" "afferent arteriole" + "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T cell secreting IL-4" "leukodystrophy due to alkaline ceramidase 3 deficiency" "ACER3-related early childhood-onset progressive leukodystrophy" "blood serum SHC-transforming protein 4 amount" @@ -134433,14 +134434,14 @@ "X-linked Asperger syndrome" "Asperger syndrome" "blood serum zinc finger protein 276 amount" - "Dentatorubropallidoluysian atrophy" - "Naito-Oyanagi disease" - "DRPLA" "Leiomyosarcomas" "leiomyosarcoma - not uterine" "leiomyosarcoma" "leiomyosarcoma (excluding uterine leiomyosarcoma)" "leiomyosarcoma, malignant" + "Dentatorubropallidoluysian atrophy" + "Naito-Oyanagi disease" + "DRPLA" "Boyes Arabidopsis Growth Stage 9.7" "Arabidopsis Growth principal growth stage 9" "Togaviridae Infections" @@ -134915,6 +134916,7 @@ "MOCODA" "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" "molybdenum cofactor deficiency, complementation group type a" + "blood serum ephrin type-A receptor 4 amount" "large intestine leiomyoma" "leiomyoma of large intestine" "colorectal leiomyoma" @@ -134923,7 +134925,6 @@ "leiomyoma of the large intestine" "leiomyoma of large bowel" "colorectum leiomyoma" - "blood serum ephrin type-A receptor 4 amount" "blood serum neuropilin and tolloid-like protein 2 amount" "oligodendroglioma of adults" "grade II adult oligodendroglial tumour" @@ -135306,9 +135307,9 @@ "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" "GM14439 cell" "blood serum biotinidase amount" - "CBA Jackson" "Atlantic salmon" "Salmo salar Linnaeus, 1758" + "CBA Jackson" "DEE44" "EIEE44" "early infantile epileptic encephalopathy caused by mutation in UBA5" @@ -135349,8 +135350,8 @@ "Ring chromosome type 2" "rose cluster 2" "blood serum tuftelin amount" - "MMND" "Pure or complicated autosomal recessive spastic paraplegia" + "MMND" "two-rowed barley" "domesticated barley" "barley" @@ -135617,9 +135618,9 @@ "infantile carnitine palmitoyltransferase II deficiency" "lethal neonatal carnitine palmitoyltransferase II deficiency" "CPTII" - "blood serum zinc finger protein SNAI2 amount" "OOCHS" "Hernández-Fragoso syndrome" + "blood serum zinc finger protein SNAI2 amount" "Escherichia coli O157:H7 strain Sakai" "HPS without pulmonary fibrosis" "3-amino-2-methylpropanoic acid" @@ -135918,9 +135919,9 @@ "autosomal dominant PHA 1" "autosomal dominant pseudohypoaldosteronism type 1" "Memory Impairment Adverse Event" + "Htol" "response to tetracosactide" "response to cosyntropin" - "Htol" "CDA IV" "congenital dyserythropoietic anemia due to KLF1 mutation" "dyserythropoietic anemia, congenital, type IV" @@ -136395,13 +136396,13 @@ "endometrioid stromal sarcoma of the vagina" "endometrioid stromal sarcoma of vagina" "3-HPMA measurement" + "Dietary" + "Diets" "lipodystrophy, cephalothoracic type" "Barraquer-Simons syndrome" "partial progressive lipodystrophy" "APLD" "APLD, susceptibility to" - "Dietary" - "Diets" "single cell ATAC-seq (cell index)" "sci-ATAC-seq" "blood serum DnaJ homolog subfamily C member 17 amount" @@ -136604,11 +136605,11 @@ "LIFR" "idiopathic hypertension" "primary hypertension" - "Del(2)(p21) without cystinuria" "Achondroplasia" "chondrodystrophia" "Achondroplastic physique" "ACH" + "Del(2)(p21) without cystinuria" "blood serum V-set and immunoglobulin domain-containing protein 10 amount" "idiopathic cardiomyopathy" "Curatolo-Cilio-Pessagno syndrome" @@ -137033,12 +137034,12 @@ "pleurisy" "pleura inflammation" "pleuritis" - "SpecificallyDependentContinuant" - "specifically dependent continuant" - "establishment of localisation" "Gaucher disease, subacute neuronopathic type" "Chronic neuronopathic Gaucher disease" "Cerebral juvenile and adult form of Gaucher disease" + "SpecificallyDependentContinuant" + "specifically dependent continuant" + "establishment of localisation" "age migraine disorder symptoms begin" "age at onset of migraine disorder" "GM17166 cell" @@ -137240,15 +137241,15 @@ "2-amino-3-hydroxy-N'-(2,3,4-trihydroxybenzyl)propanehydrazide" "post-vent region" "blood collagen type II alpha chain amount" + "TAG 48:3" + "blood protein BEX3 amount" + "BTBR" "HER2 positive breast carcinoma" "ERBB2 Overexpressing subtype of breast carcinoma" "HER2 Overexpressing subtype of breast carcinoma" "HER2 Overexpressing breast carcinoma" "Her2-receptor positive breast cancer" "HER2 Positive breast cancer" - "TAG 48:3" - "blood protein BEX3 amount" - "BTBR" "acrocephalosyndactyly" "ACS" "acrocephalosyndactylia" @@ -137387,8 +137388,8 @@ "Kaposi sarcoma" "Kaposi's sarcoma of cornea" "Kaposi's sarcoma" - "KS" "KS" + "KS" "Kaposi's sarcoma of soft tissue" "Kaposi's sarcoma of conjunctiva" "Kaposi's sarcoma of palate" @@ -137493,11 +137494,6 @@ "Dilated cardiomyopathy secondary to alcohol (disorder)" "alcohol-induced heart muscle disease" "Alcoholic cardiomyopathy" - "fetal AEDS" - "foetal AEDS" - "FACS" - "fetal antiepileptic drug syndrome" - "foetal antiepileptic drug syndrome" "platelet-type bleeding disorder 2" "thrombasthenia" "glycoprotein IIb/IIIa defect" @@ -137509,6 +137505,11 @@ "platelet glycoprotein IIb-IIIa deficiency" "Glanzmann thrombasthenia 1" "deficiency of platelet fibrinogen receptor" + "fetal AEDS" + "foetal AEDS" + "FACS" + "fetal antiepileptic drug syndrome" + "foetal antiepileptic drug syndrome" "peripheral arterial disease" "peripheral arterial disorder" "pad" @@ -138005,8 +138006,8 @@ "primary antibody deficiency" "GM14433 cell" "pancreas undifferentiated carcinoma" - "undifferentiated carcinoma of pancreas" "pancreatic carcinosarcoma" + "undifferentiated carcinoma of pancreas" "spindle cell pancreatic carcinoma" "undifferentiated carcinoma of the pancreas" "undifferentiated (anaplastic) pancreatic carcinoma" @@ -138700,10 +138701,10 @@ "mammalian vulva" "pudendum femininum" "puboperineal region" + "TGF-alpha" "hypopigmentation of the skin (disease)" "hypopigmentation of the skin" "CAL-62" - "TGF-alpha" "blood serum queuine tRNA-ribosyltransferase accessory subunit 2 amount" "adrenal gland myelolipoma" "Myelolipoma" @@ -139033,6 +139034,7 @@ "Inability to coordinate movements when walking" "Ataxia of gait" "Isolated FSH deficiency" + "blood serum transcription elongation factor A protein-like 5 amount" "Sezary disease" "Sezary's disease" "Sezary lymphoma" @@ -139043,7 +139045,6 @@ "Sézary syndrome" "Sezary syndrome" "Sézary lymphoma" - "blood serum transcription elongation factor A protein-like 5 amount" "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" "full NF2" "nonmosaic neurofibromatosis type 2" @@ -139357,6 +139358,7 @@ "renal glomeruli" "muscular dystrophy-dystroglycanopathy limb-girdle C12" "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" + "non-syndromic bicoronal synostosis" "tumor of the thyroid gland" "tumour of the thyroid" "neoplasm of thyroid gland" @@ -139383,7 +139385,6 @@ "Neoplasm, Thyroid" "Thyroid Neoplasms" "thyroid gland neoplasm (disease)" - "non-syndromic bicoronal synostosis" "Boyes Arabidopsis Growth Stage 1.09" "BBCH growth stage 19" "Uterine Cervical Incompetence" @@ -139391,8 +139392,8 @@ "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" "Minocycline" "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" - "lungs" "intellectual disability - epilepsy - bulbous nose" + "lungs" "Vibrio harveyi str. ATCC BAA-1116" "Vibrio harveyi strain ATCC BAA-1116" "Vibrio campbellii ATCC BAA-1116" @@ -139448,8 +139449,8 @@ "disorder of proline metabolism" "inborn error of proline metabolic process" "anal squamous cell cancer" - "squamous cell carcinoma - anus" "squamous cell carcinoma of the anus" + "squamous cell carcinoma - anus" "epidermoid carcinoma of the anus" "anal squamous cell carcinoma" "epidermoid carcinoma of anus" @@ -139514,9 +139515,9 @@ "myasthenia gravis" "autoimmune myasthenia gravis" "acquired myasthenia" - "TAG 56:3" "dysphasia" "specific language disorder" + "TAG 56:3" "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" "Bork syndrome" "blood putative peptidyl-tRNA hydrolase PTRHD1 amount" @@ -139704,15 +139705,15 @@ "blood serum lamina-associated polypeptide 2 amount" "blood serum transcriptional adapter 3 amount" "blood glucose-fructose oxidoreductase domain-containing protein 2 amount" - "herpes simplex encephalitis caused by mutation in TICAM1" - "Herpes simplex encephalitis, susceptibility to, type 4" - "herpes simplex encephalitis, susceptibility to, 4" - "TICAM1 herpes simplex encephalitis" "ALK-negative anaplastic large cell lymphoma" "anaplastic large cell lymphoma, ALK-negative" "ALK- ALCL" "ALK- anaplastic large cell lymphoma" "ALCL, ALK-" + "herpes simplex encephalitis caused by mutation in TICAM1" + "Herpes simplex encephalitis, susceptibility to, type 4" + "herpes simplex encephalitis, susceptibility to, 4" + "TICAM1 herpes simplex encephalitis" "steroid-modified tinea infection" "stratum corneum of epidermis fungal infectious disease" "paediatric kidney cancer" @@ -139800,10 +139801,10 @@ "vulval fibroepithelial polyp" "vagina benign tomor, fibroepithelial (stromal) polyp" "vulvar fibroepithelial polyp" - "Ruvalcaba syndrome" "homocysteine metabolism" "Hcy metabolic process" "Hcy metabolism" + "Ruvalcaba syndrome" "Autosomal recessive deafness-onychodystrophy syndrome" "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" "DOOR syndrome" @@ -139923,14 +139924,6 @@ "age migraine without aura symptoms begin" "age at onset of migraine without aura" "blood serum PEST proteolytic signal-containing nuclear protein amount" - "FZD6 inherited isolated nail anomaly" - "twenty-nail dystrophy" - "onychodystrophy totalis" - "nail disorder, nonsyndromic congenital, type 10" - "nonsyndromic congenital nail disorder type 1" - "nonsyndromic congenital nail disorder 10" - "nonsyndromic congenital nail disorder type 10" - "inherited isolated nail anomaly caused by mutation in FZD6" "small cell carcinoma of oesophagus" "small cell carcinoma, oesophagus" "oesophagus small cell carcinoma" @@ -139949,6 +139942,14 @@ "small cell carcinoma, esophagus" "esophageal small cell carcinoma" "esophageal small cell neuroendocrine carcinoma" + "FZD6 inherited isolated nail anomaly" + "twenty-nail dystrophy" + "onychodystrophy totalis" + "nail disorder, nonsyndromic congenital, type 10" + "nonsyndromic congenital nail disorder type 1" + "nonsyndromic congenital nail disorder 10" + "nonsyndromic congenital nail disorder type 10" + "inherited isolated nail anomaly caused by mutation in FZD6" "blood Rab GTPase-binding effector protein 1 amount" "blood E3 ubiquitin/ISG15 ligase TRIM25 amount" "transplantation of liver" @@ -139974,11 +139975,11 @@ "neoplasm of Rathke's pouch" "blood serum glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 amount" "DC.103+11b-.Lv" - "red blood cell" - "RBC" "XLP" "Purtilo syndrome" "Duncan disease" + "red blood cell" + "RBC" "4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid" "preterm premature rupture of the membranes, susceptibility to" "PPROM" @@ -140161,7 +140162,6 @@ "Bm3 B-lymphocyte" "Bm3 B-cell" "Bm3 B lymphocyte" - "Seghers syndrome" "fleck retina, familial benign" "testicular tumor, childhood" "pediatric testicular neoplasm" @@ -140180,6 +140180,7 @@ "sleep related bruxism" "bruxism" "grinding teeth" + "Seghers syndrome" "thymus neuroendocrine carcinoma" "neuroendocrine carcinoma of thymus" "thymic neuroendocrine carcinoma" @@ -140330,9 +140331,9 @@ "PRKAG2-related cardiomyopathy" "PRKAG2 cardiac syndrome" "PRKAG2 syndrome" + "blood serum Phosphatidylcholine (O-16:1_18:0) amount" "methyl 6,8-dideoxy-6-({[(2S,4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-erythro-alpha-D-galacto-octopyranoside" "Lincomycin" - "blood serum Phosphatidylcholine (O-16:1_18:0) amount" "hip osteoarthritis" "Hip Osteoarthritis\n" "Hip Osteoarthritides\n" @@ -140394,9 +140395,9 @@ "SCA2" "ventricular myocardium" "ventricle myocardium" - "129/J" "Endometrial Adenoacanthoma" "Adenocanthoma of Endometrium" + "129/J" "pancreatic mucinous cystadenoma" "mucinous cystadenoma of pancreas" "pancreas mucinous cystadenoma" @@ -140483,9 +140484,9 @@ "Lymphangitis NOS" "Lymphangitis" "lymphangitis" - "brachial part of trunk of subclavian artery" "hypertriglyceridemia (disease)" "hypertriglyceridemia" + "brachial part of trunk of subclavian artery" "Laxova-Opitz syndrome" "Waisman syndrome, X-linked recessive" "early-onset parkinsonism-intellectual disability syndrome" @@ -140702,7 +140703,6 @@ "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" "MRT75" "GM17235 cell" - "blood serum kelch-like protein 7 amount" "AOM" "medial otitis" "middle ear inflammation" @@ -140711,6 +140711,7 @@ "middle Ear Inflammation" "otitis Media" "otitis media (disease)" + "blood serum kelch-like protein 7 amount" "malignant aorta neoplasm" "malignant tumour of the aorta" "malignant tumor of the aorta" @@ -140858,12 +140859,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "FCAS" "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -141627,12 +141628,11 @@ "1H-1,2,4-triazol-3-amine" "Amitrole" "blood serum membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 amount" - "blood serum RING finger protein 24 amount" "salivary gland acinic cell tumour" "salivary gland acinic cell neoplasm" "acinic cell tumour of salivary gland" - "acinic cell tumour of the salivary gland" "acinic cell tumor of the salivary gland" + "acinic cell tumour of the salivary gland" "acinic cell neoplasm of salivary gland" "acinic cell neoplasm of the salivary gland" "acinic cell tumor of salivary gland" @@ -141641,6 +141641,7 @@ "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" "salivary gland acinic cell carcinoma" + "blood serum RING finger protein 24 amount" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -141675,6 +141676,7 @@ "ADK hypermethioninemia" "Hypermethioninemia encephalopathy due to ADK deficiency" "OCA5" + "SPG62" "hyperprolinemia caused by mutation in ALDH4A1" "hyperprolinemia type 2" "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" @@ -141682,7 +141684,6 @@ "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" "1-pyrroline-5-carboxylate dehydrogenase activity disease" "ALDH4A1 hyperprolinemia" - "SPG62" "Graham Little syndrome" "Piccardi-Lassueur-Little syndrome" "GM17282 cell" @@ -141704,9 +141705,9 @@ "onycho-digito-mammary syndrome" "MDN syndrome" "mammary-digital-nail syndrome" + "blood Xaa-Pro dipeptidase amount" "PSP-parkinsonism" "PSP-p" - "blood Xaa-Pro dipeptidase amount" "inflammation of nasal cavity mucosa" "nasal cavity mucosa inflammation" "rhinitis" @@ -142025,7 +142026,6 @@ "blood serum receptor-type tyrosine-protein phosphatase H amount" "angiolipoma" "angiolipoma, benign" - "shaft of hair" "down regulation of salivation" "downregulation of salivation" "negative regulation of salivation" @@ -142033,6 +142033,7 @@ "down-regulation of saliva secretion" "down regulation of saliva secretion" "downregulation of saliva secretion" + "shaft of hair" "blood serum collagen alpha-1(XIII) chain amount" "hypertensive emergency" "malignant hypertension" @@ -142080,11 +142081,11 @@ "disease remission" "N-[(2E)-3-phenylprop-2-enoyl]glycine" "Chickenpox" + "chickenpox" "chicken pox" "Varicella" "chicken pox infection" "varicella" - "chickenpox" "blood serum ubiquitin thioesterase otulin amount" "ulnar hypoplasia-lobster-claw deformity of feet syndrome" "Van den Berghe-Dequecker syndrome" @@ -142154,9 +142155,9 @@ "blood serum Rho-related GTP-binding protein RhoE amount" "lymphoid-primed multipotent progenitor" "sarcosinemia" + "Fusarium sambucinum" "6-propyl-2-sulfanylidene-2,3-dihydropyrimidin-4(1H)-one" "6-propyl-2-thiouracil" - "Fusarium sambucinum" "leukoplakia of esophagus" "esophagus leukoplakia" "leukoplakia of oesophagus" @@ -142308,11 +142309,14 @@ "Mixed hyperlipoproteinemia" "Acrodysplasia scoliosis" "Brachydactyly - scoliosis - carpal fusion" - "ZMYM2-related neurodevelopmental disorder with multiple anomalies" "Bloom-Torre-Machacek syndrome" "Bloom syndrome" "BSyn" "congenital telangiectatic erythema syndrome" + "ZMYM2-related neurodevelopmental disorder with multiple anomalies" + "Ornithine carbamoyltransferase deficiency" + "OCT deficiency" + "OTC deficiency" "Delayed attainment of gross motor milestones" "Limited gross motor skills" "Delayed gross motor milestones" @@ -142324,9 +142328,6 @@ "Delayed attainment of gross motor skills" "Gross motor delay" "Developmental delay, gross motor" - "Ornithine carbamoyltransferase deficiency" - "OCT deficiency" - "OTC deficiency" "Immunodeficiency - centromeric instability - facial anomalies" "Pregnenolone sulfate" "20-oxopregn-5-en-3beta-yl hydrogen sulfate" @@ -142397,10 +142398,10 @@ "SERKAL syndrome" "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" "r1" - "blood serum choriogonadotropin subunit beta amount" "Gait apraxia (finding)" "Gait Apraxia" "gait apraxia" + "blood serum choriogonadotropin subunit beta amount" "blood serum hydroxysteroid dehydrogenase-like protein 2 amount" "nonmelanoma skin carcinoma" "nonmelanoma skin cancer" @@ -142473,9 +142474,9 @@ "blood serum short transmembrane mitochondrial protein 1 (human) amount" "blood serum tomoregulin-1 amount" "blood serum histone RNA hairpin-binding protein amount" + "HRQOL" "Ler" "Landsberg erecta" - "HRQOL" "haematopoietic and lymphoid neoplasms" "hematopoietic tumor" "HEMOLYMPHORETICULAR tumor, malignant" @@ -142614,6 +142615,7 @@ "malunion of fracture" "fracture, malunion" "malunion of broken bone" + "CMT1F" "vaginal carcinosarcoma" "vaginal malignant mixed mesodermal (Müllerian) tumour" "vaginal malignant mixed mesodermal (Müllerian) tumor" @@ -142623,7 +142625,6 @@ "lymphoma of digestive system" "primary digestive system lymphoma" "blood serum laminin subunit alpha-3 amount" - "CMT1F" "DistanceUnit" "blood serum C1q-related factor amount" "familial lipoprotein lipase deficiency with type I phenotype" @@ -142933,7 +142934,6 @@ "genetic renal tubular dysgenesis" "renal tubular dysgenesis of genetic origin" "JPT" - "germ cell tumor of the mediastinum" "mediastinum germ cell tumour" "germ cell tumour of the mediastinum" "germ cell neoplasm of mediastinum" @@ -142945,6 +142945,7 @@ "mediastinal germ cell tumor" "thymic germ cell tumor" "mediastinum germ cell tumor" + "germ cell tumor of the mediastinum" "vaginal glandular tumor" "vaginal glandular neoplasm" "vagina glandular cell neoplasm" @@ -143270,11 +143271,11 @@ "ectodermal dysplasia-skin fragility syndrome" "McGrath syndrome" "TAG 56:6" - "blood nucleolar protein 16 amount" "lymphoma of eyeball of camera-type eye" "eyeball of camera-type eye lymphoma" "eye lymphoma" "primary eye lymphoma" + "blood nucleolar protein 16 amount" "level of phosphatidylinositol 16:0_18:1 in blood serum" "blood serum phosphatidylinositol 16:0_18:1 amount" "Del(2)(q31.1)" @@ -143815,8 +143816,8 @@ "Hermansky-Pudlak syndrome 2" "lithium chloride" "blood plasma 5-HETE amount" - "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" "ND01173 cell" + "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" "experimentally derived cell" "Aortic aneurysm syndrome due to TGF-beta receptors anomalies" "MP" @@ -143883,8 +143884,8 @@ "blood serum bone marrow proteoglycan amount" "IL10-related early-onset inflammatory bowel disease" "IL10-related early-onset IBD" - "phosphatidylcholine O-42:0" "3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride" + "phosphatidylcholine O-42:0" "blood serum complement C1q-like protein 4 amount" "distal duplication 18q" "distal trisomy type 18q" @@ -144004,6 +144005,7 @@ "UCMD" "scapula bone" "Shoulder Blade" + "type 1A" "Neoplasm, Respiratory Tract" "RESPIRATORY TRACT NEOPL" "neoplasms, respiratory tract" @@ -144025,7 +144027,6 @@ "Neoplasms, Respiratory Tract" "Respiratory Tract Neoplasm" "Respiratory Tract Neoplasms" - "type 1A" "benign tumor of the soft tissue" "benign tumour of the soft tissue" "benign neoplasm of the soft tissue" @@ -144132,11 +144133,11 @@ "Micrococcus gonococcus" "Merismopedia gonorrhoeae" "blood complement receptor type 2 amount" + "osteoarthritis of the hand" + "osteoarthritis, hand" "radioulnar synostosis" "radioulnar synostosis (disease)" "radioulnar fusion" - "osteoarthritis of the hand" - "osteoarthritis, hand" "pseudo-Hurler polydystrophy" "mucolipidosis type 3 alpha/beta" "mucolipidosis type III" @@ -144296,8 +144297,8 @@ "chronic myelomonocytic leukemia" "chronic myelomonocytic leukaemia (CMML)" "chronic myelomonocytic leukemia (CMML)" - "CMML" "CMML" + "CMML" "AML, Mutation of the Nucleophosmin Gene" "AML, NPM1 gene mutation" "acute myeloid leukemia, NPM1 gene mutation" @@ -144545,8 +144546,8 @@ "Pelizaeus-Merzbacher disease type II" "GM17294 cell" "viral respiratory tract infection" - "Neonatal progeroid syndrome" "blood serum endoplasmic reticulum aminopeptidase 2 amount" + "Neonatal progeroid syndrome" "Benallegue-Lacete syndrome" "thyroid gland cancer" "malignant tumor of the thyroid gland" @@ -144711,11 +144712,11 @@ "benign exocrine pancreas tumour" "benign exocrine pancreas neoplasm" "benign tumor of the exocrine pancreas" + "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" "Congenital tritanopia" "Blue colour blindness" "blue color blindness" "Tritan colour blindness" - "(3S)-3-ammoniopropane-1,1,3-tricarboxylate" "Terminal meromelia" "GM17845 cell" "Ladda-Zonana-Ramer syndrome" @@ -144723,8 +144724,8 @@ "lamina limitans anterior corneae" "anterior limiting lamina" "Bowman's membrane" - "Bowman's anterior elastic lamina" "lamina limitans anterior (cornea)" + "Bowman's anterior elastic lamina" "anterior elastic lamina" "Bowman's layer" "Smart-3seq" @@ -145680,12 +145681,6 @@ "blood serum transmembrane emp24 domain-containing protein 9 amount" "CMT" "Charcot-Marie-Tooth hereditary neuropathy" - "lymphangioendothelial sarcoma" - "malignant lymphangioendothelioma" - "lymphangiosarcoma, malignant" - "lymphangiosarcoma" - "lymphangiosarcoma of Stewart and Treves" - "Stewart-Treves syndrome" "Simian immunodeficiency virus caused disease or disorder" "Simian immunodeficiency virus infectious disease" "simian immunodeficiency virus infection" @@ -145693,6 +145688,12 @@ "SIV" "Malformation of brainstem structures" "Brainstem hypoplasia/dysplasia" + "lymphangioendothelial sarcoma" + "malignant lymphangioendothelioma" + "lymphangiosarcoma, malignant" + "lymphangiosarcoma" + "lymphangiosarcoma of Stewart and Treves" + "Stewart-Treves syndrome" "blood serum target of Myb1 membrane trafficking protein amount" "hereditary mitral valve disease" "congenital anomaly of mitral valve" @@ -146045,8 +146046,8 @@ "primary skeletal dysplasia" "primary osteodysplasia" "primary bone dysplasia" - "cholestasis of extrahepatic bile duct" "extrahepatic biliary Stasis" + "cholestasis of extrahepatic bile duct" "Cholestasis, Extrahepatic" "extrahepatic biliary stasis" "extrahepatic obstructive biliary disease (disorder)" @@ -146054,10 +146055,10 @@ "extrahepatic cholestasis (finding)" "extrahepatic cholestasis" "extrahepatic bile duct cholestasis" - "blood serum protein kinase C-binding protein NELL2 amount" "visual agnosia" "visuoperceptual agnosia" "visual agnosia (disease)" + "blood serum protein kinase C-binding protein NELL2 amount" "glycogenosis type 12" "GSD due to aldolase A deficiency" "glycogen storage disease due to aldolase A deficiency" @@ -146200,14 +146201,14 @@ "15q24 recurrent microdeletion syndrome" "monosomy 15q24" "blood protein LYRIC amount" - "trisomy 10q22.3q23.3" - "dup(10)(q22.3q23.3)" "CVD1" "congenital valvular dysplasia" "myxomatous valvular dystrophy, X-linked" "valvular heart disease, congenital" "XMVD" "cardiac valvular dysplasia, X-linked" + "trisomy 10q22.3q23.3" + "dup(10)(q22.3q23.3)" "Brachycardia" "Slow heartbeats" "non-classical monocyte, human" @@ -146365,9 +146366,9 @@ "dHMN" "neuronopathy, distal hereditary motor" "dSMA" + "classically activated macrophage" "p-null phenotype" "Tj[a-]" - "classically activated macrophage" "blood serum interferon regulatory factor 8 amount" "tibiofibular terminal transverse meromelia, unilateral" "disease with focal palmoplantar hyperkeratosis as a major feature" @@ -146461,14 +146462,14 @@ "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" "diabetes, permanent neonatal 2, with or without neurologic features" "PNDM2" - "Comèl-Netherton syndrome" - "NS" - "Bamboo hair syndrome" "legionellosis" "Legionella infection" "Legionellosis" "Legionnaires disease" "Legionella infection (disorder)" + "Comèl-Netherton syndrome" + "NS" + "Bamboo hair syndrome" "Xanthomonas oryzae pv. oryzae strain PXO99A" "Xanthomonas oryzae pv. oryzae str. PXO99A" "Xanthomonas oryzae pv. oryzae PX099A" @@ -146635,28 +146636,28 @@ "prostate gland transitional cell carcinoma" "primary prostate urothelial carcinoma" "transitional cell carcinoma of the prostate" + "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "Cranial Nerve V" "Nervus Trigeminus" "trigeminus" "Fifth Cranial Nerve" - "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "blood serum aminopeptidase NAALADL1 amount" "Sulfolobus fataricus" "Aspergillus nidulans" "Aspergillus nidulellus" "A. nidulans" "Aspergilus nidulans" - "Ectrodactyly - ectodermal dysplasia - cleft lip/palate" "Developmental and epileptic encephalopathy-1 (DEE1)" + "Ectrodactyly - ectodermal dysplasia - cleft lip/palate" "Delusions" "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" "LNZ-308" - "blood serum defensin beta 118 amount" "Ureaplasma urethritis" "Ureaplasma disease or disorder" "Ureaplasma Infections" "Ureaplasma infectious disease" "Ureaplasma caused disease or disorder" + "blood serum defensin beta 118 amount" "microeinstein per second and square meter" "distal arthrogryposis type IID" "distal arthrogryposis type 4" @@ -146734,13 +146735,13 @@ "spirochetal jaundice" "Fort Bragg fever" "Leptospira caused disease or disorder" - "SCAR13" - "Autosomal recessive spinocerebellar ataxia type 13" - "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "blood serum TRAF family member-associated NF-kappa-B activator amount" "meso-erythritol" "erythritol" "Erythritol" + "SCAR13" + "Autosomal recessive spinocerebellar ataxia type 13" + "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "extra-adrenal chromaffin neoplasm" "Extra-Adrenal Sympathetic Paraganglionic Neoplasm" "extra-adrenal Chromaffinoma" @@ -146870,14 +146871,14 @@ "urethral urothelial cancer" "transitional cell carcinoma of the urethra" "Brain inflammation" - "primary chronic pseudo-obstruction of colon (disorder)" - "Colonic Pseudo-Obstruction" "congenital arthromyodysplasia" "multiple congenital arthrogryposis" "Arthromyodysplasia congenita" "myodysplasia" "AMC" "arthrogryposis multiplex congenita" + "primary chronic pseudo-obstruction of colon (disorder)" + "Colonic Pseudo-Obstruction" "Pyothorax" "pleural empyema (disease)" "abscess of pleural cavity" @@ -147075,9 +147076,9 @@ "dilated cardiomyopathy type 2A" "cardiomyopathy, dilated, type 2A" "inner ear vestibular component" + "rachis" "X-linked ataxia-dementia syndrome" "SCAX4" - "rachis" "ITM2B-related cerebral amyloid angiopathy" "ITM2B-related amyloidosis" "familial cerebral amyloid angiopathy" @@ -147268,11 +147269,11 @@ "Appendicitis" "vermiform appendix inflammation" "inflammation of vermiform appendix" + "right atrium of heart" "right atrium" "cardiac right atrium" "heart right atrium" "right cardiac atrium" - "right atrium of heart" "EDS II" "Infrequent bowel movements" "Chronic constipation" @@ -147454,9 +147455,9 @@ "hyperphenylalaninemia, Bh4-deficient, type B" "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" "GTPCH deficiency" - "blood serum transcription regulator protein BACH2 amount" "eyelid hypopigmentation" "hypopigmentation of eyelid" + "blood serum transcription regulator protein BACH2 amount" "Craniofrontonasal dysplasia, Teebi type" "Teebi syndrome" "Brachycephalofrontonasal dysplasia" @@ -148306,8 +148307,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid adenocarcinoma of colon" "colloid colon adenocarcinoma" + "colloid adenocarcinoma of colon" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -148350,10 +148351,10 @@ "Amyotrophy" "Cantu syndrome" "hypertrichotic osteochondrodysplasia (Cantu syndrome)" - "Rare non-syndromic intellectual deficiency" "blood serum acid phosphatase type 7 amount" "blood serum DNA repair endonuclease XPF amount" "optic atrophy 7" + "Rare non-syndromic intellectual deficiency" "Intracranial Hemorrhages" "Hemorrhage, Posterior Fossa" "Intracranial haemorrhage NOS" @@ -148786,9 +148787,9 @@ "digestive system melanoma" "gastrointestinal melanoma" "GM17846 cell" - "marginal papular palmoplantar hyperkeratosis" "Camero-Lituania-Cohen syndrome" "Genoa syndrome" + "marginal papular palmoplantar hyperkeratosis" "melon necrotic spot virus MNSV" "MNSV" "Tuberculosis, Female Genital" @@ -148871,8 +148872,8 @@ "lung mucoepidermoid cancer" "lung mucoepidermoid carcinoma" "Boil" - "Autosomal dominant pseudohypoaldosteronism type 1" "GM17779 cell" + "Autosomal dominant pseudohypoaldosteronism type 1" "spermatogenic failure, x-linked, 1" "Germinal cell aplasia" "DEL CASTILLO syndrome" @@ -149192,8 +149193,8 @@ "Conradi Hunermann syndrome" "X-linked chondrodysplasia punctata type 2" "(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid" - "blood collagen alpha-1(V) chain amount" "EBV-EA seropositivity" + "blood collagen alpha-1(V) chain amount" "APMF" "acute (malignant) myelofibrosis" "acute myelosclerosis" @@ -149434,8 +149435,8 @@ "Santos-Mateus-Leal syndrome" "blood serum delta-like protein 3 amount" "golden-mantled ground squirrel" - "sTREM2 measurement" "blood serum Phosphatidylcholine (16:0_18:3) amount" + "sTREM2 measurement" "COG2-related congenital disorder of glycosylation" "COG2-CDG" "blood serum synaptotagmin-like protein 1 amount" @@ -149854,8 +149855,8 @@ "splenic marginal zone B-cell lymphoma with villous lymphocytes" "marginal zone lymphoma of the spleen" "splenic marginal zone B-cell lymphoma" - "SMZL" "SMZL" + "SMZL" "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" "SEMDJL1" "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" @@ -150344,8 +150345,8 @@ "organic substance metabolism" "organic molecular entity metabolism" "organic molecular entity metabolic process" - "foreign body in alimentary tract" "blood serum SPRY domain-containing SOCS box protein 1 amount" + "foreign body in alimentary tract" "1 floral meristem visible" "autosomal recessive juvenile onset Parkinson disease 9" "PARK9" @@ -150392,9 +150393,9 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" - "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" + "GAMOS10" "GM17262 cell" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" @@ -150410,11 +150411,11 @@ "cerebral embolism" "Intracranial Embolism" "intracranial embolism" - "DmD20_c5" "D20-c5" "ML_DmD20_c5" "DmD20-c5" "ML DmD20 c5" + "DmD20_c5" "CMT2B" "blood serum heterogeneous nuclear ribonucleoprotein A1 amount" "blood serum cAMP-dependent protein kinase type II-alpha regulatory subunit amount" @@ -150543,6 +150544,7 @@ "Rare familial disorder with hypertrophic obstructive cardiomyopathy" "blood serum synaptotagmin-like protein 2 amount" "blood acyl-protein thioesterase 2 amount" + "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome" "hereditary Fanconi renotubular syndrome" "Infection due to Listeria monocytogenes (disorder)" "infection by Listeria monocytogenes" @@ -150556,7 +150558,6 @@ "Infection by Listeria monocytogenes" "listeriosis" "Listeriosis, unspecified (disorder)" - "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome" "shortened long tubular bones" "Short long bone" "Short tubular bones" @@ -150631,6 +150632,7 @@ "TAG 46:1" "alloimmunisation" "Mokola lyssavirus" + "Rajab-Spranger syndrome" "malignant tumour of the accessory sinus" "malignant neoplasm of accessory sinus" "malignant accessory sinus neoplasm" @@ -150649,7 +150651,6 @@ "malignant tumor of the accessory sinus" "malignant tumor of the paranasal sinus" "malignant tumour of the paranasal sinus" - "Rajab-Spranger syndrome" "Joubert syndrome type 5" "CEP290 Joubert syndrome" "Joubert syndrome 5" @@ -150699,8 +150700,8 @@ "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "KCS" "Dry Eye Syndrome" + "KCS" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -151665,9 +151666,9 @@ "extraembryonic component" "extraembryonic structures" "extraembryonic structure" + "Abnormality of circulating enzyme level" "ATRUS syndrome" "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" - "Abnormality of circulating enzyme level" "hereditary hypertrophic pyloric stenosis" "queen conch" "pink conch" @@ -151898,6 +151899,9 @@ "blood serum carcinoembryonic antigen-related cell adhesion molecule 3 amount" "bis[2-hydroxypropane-1,2,3-tricarboxylato(3-)-kappa(3)O(1),O(2),O(3)]ferrate(3-)" "blood complement component C8 beta chain amount" + "inherited cardiac tumor" + "hereditary heart neoplasm" + "genetic heart tumor" "blood serum dual specificity protein phosphatase 15 amount" "Toxoplasmosis - congen." "mother-to-child transmission of toxoplasmosis" @@ -151925,9 +151929,6 @@ "progressive myoclonic epilepsy type 2" "myoclonic epilepsy of Lafora" "epilepsy, progressive myoclonic 2A (Lafora)" - "inherited cardiac tumor" - "hereditary heart neoplasm" - "genetic heart tumor" "Raised intracranial pressure" "raised intracranial pressure" "Intracranial Hypertension" @@ -151972,14 +151973,14 @@ "OPTA1" "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" - "bile duct squamous cell carcinoma" "Achondrogenesis, Langer-Saldino type" + "bile duct squamous cell carcinoma" "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" "dedifferentiated liposarcoma" - "DDLS" "DDLS" + "DDLS" "Dedifferentiated liposarcoma" "DDLPS" "A-20" @@ -152102,6 +152103,10 @@ "Asidan" "gonococcal cervicitis, chronic" "chronic gonococcal cervicitis" + "autosomal dominant spastic paraplegia 38" + "SPG38" + "autosomal dominant spastic paraplegia type 38" + "hereditary spastic paraplegia type 38" "testicular seminomatous germ cell tumour" "seminomatous germ cell tumour of testis" "seminoma testis" @@ -152113,10 +152118,6 @@ "testicular seminomatous germ cell tumor" "testicular seminoma (disease)" "testis seminoma" - "autosomal dominant spastic paraplegia 38" - "SPG38" - "autosomal dominant spastic paraplegia type 38" - "hereditary spastic paraplegia type 38" "brachydactyly (disease)" "brachydactyly" "Estrogen excess" @@ -152176,6 +152177,8 @@ "iron-refractory iron deficiency anemia" "IRIDA syndrome" "iron-refractory iron deficiency anaemia" + "I-cell disease" + "N-acetylglucosamine 1-phosphotransferase deficiency" "hyperphenylalaninemia, BH4-deficient C" "hyperphenylalaninemia due to dihydropteridine reductase deficiency" "disorder of 6,7-dihydropteridine reductase activity" @@ -152184,8 +152187,6 @@ "PKU type 2" "phenylketonuria type 2" "hyperphenylalaninemia, Bh4-deficient, type C" - "I-cell disease" - "N-acetylglucosamine 1-phosphotransferase deficiency" "Reticulum cell sarcoma" "reticulosarcoma" "reticulum cell sarcoma" @@ -152520,6 +152521,13 @@ "gut mucuous membrane" "digestive tract mucosa" "Pseudo-trisomy 13 syndrome" + "partial duplication of chromosome type 3" + "partial trisomy of chromosome 3" + "DEL cells" + "DEL" + "Stiff joint" + "Joint stiffness" + "Stiff joints" "Fibromuscular hyperplasia of artery (disorder)" "Fibromuscular hyperplasia of arteries NOS (disorder)" "Fibromuscular Dysplasia" @@ -152529,13 +152537,6 @@ "Fibromuscular dysplasia (morphologic abnormality)" "Fibromuscular hyperplasia of artery" "fibromuscular dysplasia" - "partial duplication of chromosome type 3" - "partial trisomy of chromosome 3" - "DEL cells" - "DEL" - "Stiff joint" - "Joint stiffness" - "Stiff joints" "blood serum Phosphatidylcholine (16:1_18:2) amount" "15q11.2 BP1-BP2 microdeletion syndrome" "chromosome 15q11.2 deletion syndrome" @@ -152749,6 +152750,7 @@ "facial VII" "facial nerve tree" "seventh cranial nerve" + "AG08904 cell" "retinopathy-encephalopathy-deafness associated with microangiopathy" "Susac syndrome" "small infarctions of cochlear, retinal and encephalic tissue" @@ -152757,7 +152759,6 @@ "Susac's syndrome" "Retinocochleocerebral Vasculopathy" "SICRET syndrome" - "AG08904 cell" "volume percentage" "% (v/v)" "BG02" @@ -152902,12 +152903,12 @@ "Van den Berghe-Dequecker syndrome" "Ulnar hypoplasia - lobster-claw deformity of feet" "HTRA1-related cerebral angiopathy" - "Deafness - nephritis - ano-rectal malformation" "epiphyseal dysplasia-microcephaly-nystagmus syndrome" "Lowry Wood syndrome" "LWS" "Lowry-Wood syndrome" "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy" + "Deafness - nephritis - ano-rectal malformation" "PGLC 33H(T5-1)" "T51 LCL" "T5-1 (3.1.0)" @@ -153385,10 +153386,10 @@ "ovarian Müllerian adenosarcoma" "ovarian Mullerian adenosarcoma" "ovarian adenosarcoma" - "Segmentation:20-25 somites" - "2-(morpholin-4-yl)-8-phenyl-4H-chromen-4-one" "Coronaviridae infectious disease" "Coronaviridae Infections" + "Segmentation:20-25 somites" + "2-(morpholin-4-yl)-8-phenyl-4H-chromen-4-one" "TAG 48:0" "locus caeruleus" "locus ceruleus" @@ -153629,10 +153630,10 @@ "blood serum ribose-phosphate pyrophosphokinase 1 amount" "blood serum bifunctional peptidase and arginyl-hydroxylase JMJD5 amount" "Mo.6C-II-" - "A modified version of STRT-seq developed by Fuchou Tang's lab as described in PMID: 28457750, which enriched the 3' end of transcripts and used UMI (unique molecular identifier) for quantification." - "3' STRT-seq" "Split foot deformity - mandibulofacial dysostosis" "Patterson-Stevenson syndrome" + "A modified version of STRT-seq developed by Fuchou Tang's lab as described in PMID: 28457750, which enriched the 3' end of transcripts and used UMI (unique molecular identifier) for quantification." + "3' STRT-seq" "6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid" "Ampicillin" "isolated prothyroliberin deficiency" @@ -154107,11 +154108,11 @@ "TONGUE NEOPL" "Neoplasm, Oral" "Oral Neoplasms" - "IMNEPD2" "malignant neoplasm of sensory system" "cancer of sensory system" "sensory system cancer" "malignant sensory system neoplasm" + "IMNEPD2" "autosomal dominant hereditary disorder" "autosomal dominant disease or disorder" "disease, autosomal dominant" @@ -154126,12 +154127,6 @@ "hypogonadotropic hypogonadism caused by mutation in ANOS1" "dyssegmental dysplasia, Rolland-Desbuquois type" "testicular seminoma, cribriform variant" - "DLD deficiency" - "E3-deficient maple syrup urine disease" - "dihydrolipoamide dehydrogenase deficiency" - "pyruvate dehydrogenase E3 deficiency" - "oxoglutarate dehydrogenase deficiency" - "Alpha-ketoglutarate dehydrogenase deficiency" "Liveborn with birth asphyxia NOS (disorder)" "fetal asphyxia" "Asphyxia - birth" @@ -154155,6 +154150,12 @@ "asphyxia - birth" "Asphyxia NOS in liveborn infant" "HIE" + "DLD deficiency" + "E3-deficient maple syrup urine disease" + "dihydrolipoamide dehydrogenase deficiency" + "pyruvate dehydrogenase E3 deficiency" + "oxoglutarate dehydrogenase deficiency" + "Alpha-ketoglutarate dehydrogenase deficiency" "Adenoma, Prostatic" "Benign Hyperplasia of the Prostate" "Benign fibroma of prostate" @@ -154185,10 +154186,10 @@ "Prostatic Adenomas" "benign hypertrophy of prostate NOS" "Benign enlargement of prostate" + "benign hyperplasia of prostate" "BPH" "Prostatic Hyperplasia" "Prostatauxe" - "benign hyperplasia of prostate" "Hyperplasia of prostate" "Glandular, stromal and muscular hyperplasia of prostate gland" "Nodular hyperplasia of prostate gland" @@ -154339,13 +154340,13 @@ "craniometaphyseal dysplasia, autosomal recessive" "DC.SIRPa+.Ad" "r8" + "Childhood ataxia with diffuse central nervous system hypomyelination" + "Myelinosis centralis diffusa" + "Leukoencephalopathy with vanishing white matter" "Osteocraniosplenic syndrome" "gracile bone dysplasia" "osteocraniostenosis" "blood serine protease inhibitor Kazal-type 5 amount" - "Childhood ataxia with diffuse central nervous system hypomyelination" - "Myelinosis centralis diffusa" - "Leukoencephalopathy with vanishing white matter" "hunting reaction" "CIVD" "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" @@ -154357,11 +154358,11 @@ "blood ataxin-3 amount" "Bradyrhizobium japonicum str. USDA 110" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" - "High-arched foot" - "Cavus foot" "variegate porphyria" "protoporphyrinogen oxidase deficiency" "Protocoproporphyria" + "High-arched foot" + "Cavus foot" "blood serum mitogen-activated protein kinase kinase kinase kinase 5 amount" "(6Z,9Z,12Z,15Z)-octadeca-6,9,12,15-tetraenoic acid" "blood serum kelch-like protein 12 amount" @@ -154412,6 +154413,7 @@ "46,XX SEX REVERSAL 5" "SRXX5" "46,xx sex reversal 5" + "Snyder-Robinson syndrome" "EoE" "chronic esophagitis, eosinophilic" "eosinophilic esophagitis" @@ -154423,7 +154425,6 @@ "Bacillus casei e" "Caseobacterium e" "Bacillus e" - "Snyder-Robinson syndrome" "S-[2,3-bis(hexadecanoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine" "Breast lump" "GM09581 cell" @@ -154473,10 +154474,10 @@ "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" "blood serum caspase recruitment domain-containing protein 19 amount" "rare hypoaldosteronism" + "Hereditary benign chorea" "blood serum ubiquitin carboxyl-terminal hydrolase 21 amount" "frontonasal dysplasia type 3" "ALX1-related frontonasal dysplasia" - "Hereditary benign chorea" "blood ribokinase amount" "angiokeratoma corporis diffusum with arteriovenous fistulas" "loricrin keratoderma" @@ -154517,11 +154518,11 @@ "vaginal Mullerian adenosarcoma" "vaginal Müllerian adenosarcoma" "TAG 48:1" - "Boyes Arabidopsis Growth Stage 1.06" - "BBCH growth stage 16" "Coronavinae infectious disease" "Coronavirus Infections" "coronavirus disease" + "Boyes Arabidopsis Growth Stage 1.06" + "BBCH growth stage 16" "blood serum Phosphatidylcholine (O-16:1_20:4) amount" "Segmentation:26+ somites" "blood serum xyloside xylosyltransferase 1 amount" @@ -154590,12 +154591,12 @@ "epidermoid carcinoma of the urethra" "urethral squamous cell cancer" "squamous cell carcinoma of the urethra" - "PA1" "oral mucositis" "mouth mucosa inflammation" "stomatitis" "mucositis oral" "inflammation of mouth mucosa" + "PA1" "mixed germ cell tumor of the ovary" "mixed germ cell neoplasm of the ovary" "mixed germ cell neoplasm of ovary" @@ -154682,9 +154683,9 @@ "salmonid viral hemorrhagic septicemia" "Hemorrhagic Septicemia, Viral" "Egtved Disease" - "blood serum gephyrin amount" "Intellectual deficiency - epilepsy - endocrine disorders" "BFLS" + "blood serum gephyrin amount" "blood serum TIMELESS-interacting protein amount" "megaconial type congenital muscular dystrophy" "congenital muscular dystrophy with mitochondrial structural abnormalities" @@ -154757,8 +154758,8 @@ "mycosis fungoides (morphologic abnormality)" "mycosis fungoides, Alibert-Bazin type" "mycosis fungoides of unspecified site" - "MF" "MF" + "MF" "mycosis fungoides NOS (morphologic abnormality)" "cutaneous T-cell lymphoma/mycosis fungoides" "mycosis fungoides, unspecified site, extranodal and solid organ sites" @@ -154797,8 +154798,8 @@ "hepatoblastoma" "paediatric hepatoblastoma" "pediatric hepatoblastoma" - "HBL" "HBL" + "HBL" "blood serum 14 kDa phosphohistidine phosphatase amount" "defect in COG complex" "blood serum metaxin-2 amount" @@ -154843,11 +154844,11 @@ "COXPD25" "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" "Monensin A" - "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "Orofaciodigital syndrome, Edwards type" "Oral-facial-digital syndrome type 8" "OFD8" "Oral-facial-digital syndrome, Edwards type" + "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "acromesomelic dysplasia 2B" "fibular hypoplasia and complex brachydactyly" "Du Pan syndrome" @@ -155075,8 +155076,8 @@ "Paget's cell neoplasm" "Paget disease" "Paget's disease" - "COXPD27" "blood serum Ras-related protein Rab-39B amount" + "COXPD27" "Disulfiram" "1,1',1'',1'''-[disulfanediylbis(carbonothioylnitrilo)]tetraethane" "immunodeficiency due to a C1, C4, or C2 component complement deficiency" @@ -155118,9 +155119,9 @@ "cerebellar capillary hemangioblastoma" "cerebellum hemangioblastoma" "hemangioblastoma of the cerebellum" - "future hypochord" "Familial multiple lentigines syndrome" "Cardiomyopathic lentiginosis" + "future hypochord" "3alpha,12alpha-dihydroxy-5beta-cholan-24-oate" "deoxycholate" "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" @@ -155589,14 +155590,14 @@ "Abnormality of the GI tract" "Abnormality of the gastrointestinal tract" "blood serum MAP6 domain-containing protein 1 amount" - "primary spinal cord lymphoma" - "lymphoma of the spinal cord" - "lymphoma of spinal cord" - "spinal cord lymphoma" "Rickettsia tsutsugamushi" "Rickettsia orientalis" "Theileria tsutsugamushi" "Rickettsia akamushi" + "primary spinal cord lymphoma" + "lymphoma of the spinal cord" + "lymphoma of spinal cord" + "spinal cord lymphoma" "EEG with generalised epileptiform discharges" "Burkholderia mana" "blood serum adaptin ear-binding coat-associated protein 2 amount" @@ -155703,8 +155704,8 @@ "Adrenal Androgen Excess" "2-methoxyethyl propan-2-yl 2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate" "Nimodipine" - "Late-onset distal crystallinopathy" "Jorgenson-Lenz syndrome" + "Late-onset distal crystallinopathy" "blood adhesion G protein-coupled receptor B3 amount" "EBA" "epidermolysis bullosa Aquisita" @@ -156057,8 +156058,8 @@ "rel-(2R,3S,4R)-2,3,4,5-tetrahydroxypentanoate" "mast cell sarcoma" "sarcoma of mast cell" - "MCS" "MCS" + "MCS" "mast-cell sarcoma" "FPHH" "GI dysmotility" @@ -156467,13 +156468,13 @@ "chronic cold urticaria" "cold-induced urticaria" "cold contact urticaria" + "blood serum platelet-derived growth factor subunit A amount" "atrial septal defect type 3" "atrial septal defect 3" "atrial heart septal defect type 3" "MYH6 atrial heart septal defect" "ASD3" "atrial heart septal defect caused by mutation in MYH6" - "blood serum platelet-derived growth factor subunit A amount" "Increased plasma CA125" "segmental intercostal arteries" "Kawashima-Tsuji syndrome" @@ -156696,8 +156697,8 @@ "RTS" "poikiloderma of Rothmund-Thomson" "Rothmund-Thomson syndrome" - "enclosing embryo" "High blood sodium levels" + "enclosing embryo" "blood serum mitogen-activated protein kinase 10 amount" "blood serum kelch-like protein 14 amount" "blood serum ADAMTS-like protein 1 amount" @@ -156727,12 +156728,12 @@ "lens crystallina" "Rare coagulopathy due to a constitutional coagulation factors defect" "Rare bleeding disorder due to a constitutional coagulation factors defect" - "lethal congenital contracture syndrome type 5" "paediatric AIS" "childhood arterial ischemic stroke" "childhood AIS" "pediatric AIS" "childhood arterial ischaemic stroke" + "lethal congenital contracture syndrome type 5" "Rokitansky sequence" "congenital absence of uterus and vagina" "MRKH syndrome type 1" @@ -156825,6 +156826,7 @@ "AA5" "neurogenic bowel" "Neurogenic Bowel" + "Muscle fibre actin filament accumulation" "autosomal dominant mental retardation 23" "intellectual disability, autosomal dominant type 23" "intellectual developmental disorder, autosomal dominant 23" @@ -156832,7 +156834,6 @@ "autosomal dominant intellectual disability 23" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "mental retardation, autosomal dominant type 23" - "Muscle fibre actin filament accumulation" "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome" "dup(16)(p13.3)" @@ -157158,9 +157159,9 @@ "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" "vitamin K-dependent clotting factors, combined deficiency of, 2" "vitamin K-dependent clotting factors, combined deficiency of, type 2" - "embryo late (growth) stage" "coxsackievirus infectious disease" "Coxsackievirus Infections" + "embryo late (growth) stage" "blood serum coiled-coil domain-containing protein 140 amount" "upregulation of inflammatory response" "up-regulation of inflammatory response" @@ -157217,12 +157218,12 @@ "hyperprostaglandin E syndrome" "Bartter syndrome, furosemide type" "Bartter syndrome, furosemide-amiloride type" + "X-linked intellectual disability - seizures - short stature - midface hypoplasia" + "CRTR-D" "Secondary olfactory cortex" "Entorhinal area" "Secondary olfactory cortical area (Carpenter)" "Area 28 of Brodmann (Crosby)" - "X-linked intellectual disability - seizures - short stature - midface hypoplasia" - "CRTR-D" "Retinal vein occlusion" "retinal vein occlusion" "Occlusion, of retinal vein" @@ -157309,8 +157310,8 @@ "Dystrophy, Pseudohypertrophic Muscular" "Dystrophy, Duchenne Muscular" "Muscular Dystrophy, Becker" - "phosphatidylcholine O-38:6" "blood serum E3 ubiquitin-protein ligase LRSAM1 amount" + "phosphatidylcholine O-38:6" "blood serum eIF5-mimic protein 1 amount" "scirrhous adenocarcinoma" "fibrocarcinoma" @@ -157481,8 +157482,8 @@ "12-aminododecanoic acid" "large intestine carcinoma" "large intestine cancer" - "CRC" "CRC" + "CRC" "carcinoma of large bowel" "cancer of large bowel" "colorectal cancer" @@ -157792,8 +157793,8 @@ "Keratosis palmoplantaris varians of Wachters" "Striate palmoplantar keratoderma" "Keratosis palmoplantaris striata et areata" - "disorder of parotid gland" "parotid gland disease" + "disorder of parotid gland" "disease or disorder of parotid gland" "parotid disorder" "disease of parotid gland" @@ -157878,8 +157879,8 @@ "Different colored eyes" "glycyl-L-tryptophan" "GM17222 cell" - "earlobe attachment" "blood serum interleukin-6 receptor subunit beta amount" + "earlobe attachment" "GM17746 cell" "liver lipoma" "lipoma of the liver" @@ -158369,8 +158370,8 @@ "kidney adenocarcinoma" "adenocarcinoma of the kidney" "adenocarcinoma of kidney" - "RCC" "RCC" + "RCC" "renal cell cancer" "carcinoma, renal cell, malignant" "renal cell adenocarcinoma" @@ -158865,8 +158866,8 @@ "anaplasmoses" "thymic malignant germ cell tumor" "mediastinal malignant germ cell tumor" - "malignant mediastinal germ cell tumor" "malignant mediastinal germ cell tumour" + "malignant mediastinal germ cell tumor" "thymic malignant germ cell tumour" "mediastinal germ cell tumor, malignant" "avian tuberculosis" @@ -159027,8 +159028,8 @@ "tumor of the glomus jugulare" "jugular body neoplasm (disease)" "tumour of the glomus jugulare" - "neoplasm of the glomus jugulare" "basicranium parasympathetic paraganglioma" + "neoplasm of the glomus jugulare" "parasympathetic paraganglioma of basicranium" "glomus jugulare neoplasm" "neoplasm of jugular body" @@ -159082,10 +159083,10 @@ "superficial Fibromatosis of plantar part of pes" "Dupuytren's contracture of foot" "plantar part of pes superficial Fibromatosis" + "blood serum voltage-dependent calcium channel subunit alpha-2/delta-3 amount" "polycystic kidney disease 6 with or without polycystic liver disease" "polycystic kidney disease caused by mutation in DNAJB11" "DNAJB11 polycystic kidney disease" - "blood serum voltage-dependent calcium channel subunit alpha-2/delta-3 amount" "Peripheral Blood" "PBMC" "Reticuloendothelial System, Blood" @@ -159210,9 +159211,9 @@ "haff" "hypertrichosis-acromegaloid facial features syndrome" "hypertrichosis-coarse face syndrome" + "blood serum general transcription factor II-I amount" "juvenile polyp" "retention polyp" - "blood serum general transcription factor II-I amount" "pyridine-2,3-dicarboxylic acid" "QUINOLINIC ACID" "Quinolinic acid" @@ -159514,8 +159515,8 @@ "CLS" "blood serum neurofilament heavy polypeptide amount" "skull disease" - "disorder of skull" "skull disease or disorder" + "disorder of skull" "disease or disorder of skull" "skull disorder" "disease of skull" @@ -159537,10 +159538,10 @@ "POLG autosomal recessive progressive external ophthalmoplegia" "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" - "blood REST corepressor 1 amount" "blood serum ubiquitin carboxyl-terminal hydrolase 30 amount" "glucosephosphate isomerase deficiency" "Polymonas" + "blood REST corepressor 1 amount" "HPS" "cold-induced sweating syndrome type 1" "Crisponi syndrome" @@ -159829,9 +159830,9 @@ "steatosis of liver" "fatty liver" "fatty change of liver" + "blood serum beta-defensin 110 amount" "blood serum retinoblastoma-like protein 1 amount" "JAE" - "blood serum beta-defensin 110 amount" "SeSAME syndrome" "Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" "neutral lipid storage disease with myopathy without ichthyosis" @@ -160000,9 +160001,9 @@ "hereditary spastic paraplegia type 73" "autosomal dominant spastic paraplegia 73" "SPG73" + "FHR proteins measurement" "low density lipoprotein peak particle diameter measurement" "VIBOS" - "FHR proteins measurement" "dysthymic disorder" "Persistent depressive disorder" "persistent mood" @@ -160076,9 +160077,9 @@ "Truncal obesity" "leaf lamina tip" "sika deer" + "Fusarium decemcellulare" "melanoacanthoma" "pigmented seborrheic keratosis" - "Fusarium decemcellulare" "disorder of valine metabolism" "disorder of valine metabolic process" "valine metabolic process disease" @@ -160237,8 +160238,8 @@ "rhabdoid tumour of kidney" "malignant rhabdoid tumour of kidney" "kidney rhabdoid tumor" - "MRTK" "MRTK" + "MRTK" "rhabdoid neoplasm of the kidney" "rhabdoid tumour of the kidney (RTK)" "rhabdoid tumor of the kidney" @@ -160542,8 +160543,8 @@ "Alphavirus caused disease or disorder" "Alphavirus infectious disease" "M14 cell" - "Frydman-Cohen-Karmon syndrome" "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" + "Frydman-Cohen-Karmon syndrome" "COI" "flower morphogenesis stage" "blood serum pyruvate carboxylase, mitochondrial amount" @@ -161163,12 +161164,6 @@ "Holmes-Collins syndrome" "forefin skeleton" "MEPCA" - "vitreous body disease" - "vitreous body disease or disorder" - "vitreous body disorder" - "disorder of vitreous body" - "disease of vitreous body" - "disease or disorder of vitreous body" "Arterial Diseases, External Carotid" "Arterial Diseases, Common Carotid" "carotid artery disorder" @@ -161203,6 +161198,12 @@ "Arterial Disease, Carotid" "Disorders, Carotid Artery" "INTERNAL CAROTID ARTERY DIS" + "vitreous body disease" + "vitreous body disease or disorder" + "vitreous body disorder" + "disorder of vitreous body" + "disease of vitreous body" + "disease or disorder of vitreous body" "blood serum StAR-related lipid transfer protein 5 amount" "caudate putamen" "caudateputamen" @@ -161259,10 +161260,10 @@ "microphthalmia, syndromic" "corneal dystrophy (disease)" "corneal dystrophy" - "vaginal adenoid cystic cancer" - "vaginal adenoid cystic carcinoma" "cerebro-facio-articular syndrome" "Van Maldergem syndrome" + "vaginal adenoid cystic cancer" + "vaginal adenoid cystic carcinoma" "San Eleno-0" "GM17113 cell" "pyridine-2,3-dicarboxylate" @@ -161378,8 +161379,8 @@ "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" "3-beta HSD deficiency" "osseous vascular tumour" - "osseous vascular tumor" "vascular tumor of the bone" + "osseous vascular tumor" "bone vascular neoplasm" "vascular tumor of bone" "vascular bone neoplasm" @@ -161825,7 +161826,6 @@ "disease of zone of skin" "blood Leucyl-Asparagine amount" "Caroli disease" - "L-histidyl-L-alanine" "neoplasm of granulosa cell" "granulosa cell neoplasm (disease)" "granulosa cell tumor, sarcomatoid" @@ -161836,6 +161836,7 @@ "granulosa cell tumor, adult type" "granulosa cell tumour, sarcomatoid" "granulosa cell neoplasm" + "L-histidyl-L-alanine" "blood serum leukocyte-associated immunoglobulin-like receptor 1 amount" "PC 36:2" "steroid metabolic process disease" @@ -162113,8 +162114,8 @@ "acute lymphoblastic leukemia (disease)" "acute lymphoblastic leukaemia (disease)" "acute lymphoblastic leukemia" - "ALL" "ALL" + "ALL" "acute lymphogenous leukemia" "acute lymphoblastic leukemia (ALL)" "precursor lymphoblastic leukaemia" @@ -162159,10 +162160,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" - "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" + "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -162175,8 +162176,6 @@ "paranasal sinus disease or disorder" "sinus disorder" "blood serum interferon regulatory factor 4 amount" - "polysaccharides" - "Polysaccharide" "Populus trichocarpa Torr. & A.Gray" "black cottonwood" "Populus trichocarpa Torr. et A.Gray" @@ -162187,6 +162186,8 @@ "(2S)-2-amino-5-{[(dimethylamino)(imino)methyl]amino}pentanoic acid" "N(5)-[(dimethylamino)(imino)methyl]-L-ornithine" "(2S)-2-amino-5-(N',N'-dimethylcarbamimidamido)pentanoic acid" + "polysaccharides" + "Polysaccharide" "brooding" "hyomandibular" "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" @@ -162677,12 +162678,6 @@ "Arterivirus caused disease or disorder" "Arterivirus disease or disorder" "Arterivirus infectious disease" - "bladder calculus" - "bladder stone" - "bladder stones" - "Urinary Bladder Calculi" - "vesical calculi" - "cystoliths" "brain-resident macrophage" "microgliocyte" "hortega cells" @@ -162693,6 +162688,12 @@ "Schimke immunoosseous dysplasia" "spondyloepiphyseal dysplasia-nephrotic syndrome" "blood serum histone-lysine N-methyltransferase EZH2 amount" + "bladder calculus" + "bladder stone" + "bladder stones" + "Urinary Bladder Calculi" + "vesical calculi" + "cystoliths" "blood serum spermatogenesis-associated protein 22 amount" "VLDL hyperlipoproteinemia" "endogenous hyperlipidaemia" @@ -162879,7 +162880,6 @@ "Tricuspid insufficiency" "ENDOVESLB" "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies" - "Syndrome X, Dysmetabolic" "Cardiovascular Syndrome, Metabolic" "Metabolic Cardiovascular Syndrome" "Reaven Syndrome X" @@ -162895,6 +162895,7 @@ "MetS" "Syndrome X, Metabolic" "Syndrome X, Insulin Resistance" + "Syndrome X, Dysmetabolic" "decadienoylcarnitine " "Takenouchi-Kosaki syndrome" "blood BPI fold-containing family B member 2 amount" @@ -163317,12 +163318,12 @@ "MSX2 parietal foramina" "parietal foramina 1" "15q26 overgrowth syndrome" - "blood developmentally-regulated GTP-binding protein 1 amount" "fetal antiepileptic drug syndrome" "FACS" "foetal AEDS" "foetal antiepileptic drug syndrome" "fetal AEDS" + "blood developmentally-regulated GTP-binding protein 1 amount" "anterior midgut anlage" "blood serum phosphotriesterase-related protein amount" "Streptococcus infectious meningitis" @@ -163922,9 +163923,9 @@ "ADCA3" "MBD2 protein methyl-CpG binding domain" "Enrichment by methyl-CpG binding domain" - "X-linked MSMD" "Brown-Squard syndrome" "Brown-Sequard syndrome" + "X-linked MSMD" "Vitreous Fluid, Blood In" "Blood In Vitreous Fluid," "Blood In Vitreous" @@ -164002,8 +164003,8 @@ "LIVER NEOPL" "Neoplasm, hepatic" "Cancers, hepatic" - "Hepatic Cancer" "Neoplasm, liver" + "Hepatic Cancer" "Cancers, liver" "Cancer of the liver" "Cancer, liver" @@ -164118,10 +164119,10 @@ "adult spinal cord glioblastoma" "glioblastoma multiforme of spinal cord" "blood serum coagulation factor XI amount" - "blood serum ATPase family gene 2 protein homolog A amount" "clear cell adenocarcinoma of ovary" "ovarian clear cell adenocarcinoma" "ovary clear cell adenocarcinoma" + "blood serum ATPase family gene 2 protein homolog A amount" "Fredrickson type V lipaemia" "familial apolipoprotein a5 deficiency" "familial apolipoprotein A-V deficiency" @@ -164825,8 +164826,8 @@ "acute granulocytic leukaemia" "acute myelogenous leukaemia" "acute myeloid leukemia" - "ANLL" "ANLL" + "ANLL" "leukemia, myelocytic, acute" "myeloid leukemia, acute, M4/M4Eo subtype, somatic" "AML - acute myeloid leukemia" @@ -164911,12 +164912,12 @@ "brain stem glioma of childhood" "pediatric glioma of brainstem" "pediatric brainstem glioma" - "blood serum ganglioside GM2 activator amount" "X-linked intellectual disability-nail dystrophy-seizures syndrome" "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" "mental retardation, X-linked syndromic, Nascimento-type" "intellectual disability, X-linked syndromic, Nascimento-type" "syndromic X-linked intellectual disability Nascimento type" + "blood serum ganglioside GM2 activator amount" "Del(20)(q13.33)" "Monosomy 20q13.33" "Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" @@ -164966,10 +164967,6 @@ "HIV wasting syndrome" "Human immunodeficiency virus infection wasting syndrome" "blood serum tubulin polyglutamylase complex subunit 2 amount" - "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" - "Hereditary unconjugated hyperbilirubinemia" - "Bilirubin-UGT deficiency" - "UGT deficiency" "glioma, susceptibility" "glioma, susceptibility to" "dorsal adductor mandibulae" @@ -164977,6 +164974,10 @@ "mitochondrial complex I deficiency, nuclear type 36" "MC1DN36" "mitochondrial complex 1 deficiency, nuclear type 36" + "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" + "Hereditary unconjugated hyperbilirubinemia" + "Bilirubin-UGT deficiency" + "UGT deficiency" "age at initiation of medical treatment" "age at first treatment" "radial longitidinal meromelia, unilateral" @@ -164996,12 +164997,12 @@ "diffuse large B-cell lymphoma of colorectum" "colorectum diffuse large B-cell lymphoma" "colorectal DLBCL" - "pre-natal developmental toxicity" "UACC.62" "mammalian vulva squamous cell neoplasm" "vulvar squamous neoplasm" "vulvar squamous tumor" "vulvar squamous tumour" + "pre-natal developmental toxicity" "Nievergelt syndrome" "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" "familial doughnut lesions of skull" @@ -165251,14 +165252,14 @@ "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" "Spastic quadriplegic cerebral palsy" "Inherited congenital spastic quadriplegia" - "childhood adrenal gland pheochromocytoma" - "malignant childhood adrenal gland pheochromocytoma" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" "EDS, kyphoscoliotic and hearing loss type" "EDS with progressive kyphoscoliosis, myopathy, and deafness" "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" + "childhood adrenal gland pheochromocytoma" + "malignant childhood adrenal gland pheochromocytoma" "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" "Corticotropin" "blood serum adhesion G-protein coupled receptor D1 amount" @@ -165896,14 +165897,14 @@ "Rectum protrudes through anus" "CILD48" "ciliary dyskinesia, primary, 48, without situs inversus" - "Staphylococcus aureus subsp. aureus strain Newman" - "Staphylococcus aureus subsp. aureus Newman" "Filobasidiella neoformans var. neoformans" "Cryptococcus neoformans serotype D" "tuberculosis of intestine" "intestine tuberculosis" "PTLAH" "patella aplasia or hypoplasia" + "Staphylococcus aureus subsp. aureus strain Newman" + "Staphylococcus aureus subsp. aureus Newman" "leiomyosarcoma of bone tissue" "leiomyosarcoma of bone" "bone leiomyosarcoma" @@ -166013,8 +166014,8 @@ "oncocytic hepatocellular tumour" "fibrolamellar carcinoma of liver cells" "fibrolamellar cancer" - "FHCC" "FHCC" + "FHCC" "middle interhemispheric variant of holoprosencephaly" "MIH" "MIHV" @@ -166060,11 +166061,11 @@ "ovarian myxoid liposarcoma" "ovary myxoid liposarcoma" "myxoid liposarcoma of the ovary" + "Nivelon-Nivelon-Mabille syndrome" + "Chondrodysplasia - pseudohermaphroditism" "blood serum glutathione-requiring prostaglandin D synthase amount" "white blood cell" "leucocyte" - "Nivelon-Nivelon-Mabille syndrome" - "Chondrodysplasia - pseudohermaphroditism" "Kozlowski-Krajewska syndrome" "borderline ovarian serous neoplasm" "borderline serous tumor of the ovary" @@ -166363,12 +166364,12 @@ "AIDS-associated nephropathy" "AIDS-Related nephropathy" "HIV-associated nephropathy" - "response to stavudine trait" "OCA6" "partial duplication of chromosome Xq" "partial trisomy of the long arm of chromosome X" "partial trisomy of chromosome Xq" "partial duplication of the long arm of chromosome type X" + "response to stavudine trait" "neurolemmocyte" "blood serum small vasohibin-binding protein amount" "anal Buschke-Lowenstein tumour" @@ -166548,8 +166549,8 @@ "acute M4 myeloid leukaemia" "acute M4 myeloid leukemia" "acute myelomonocytic leukemia M4" - "AMML" "AMML" + "AMML" "acute myelomonocytic leukaemia (FAB type M4)" "AML M4" "AMMoL" @@ -167095,11 +167096,11 @@ "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" "Jervell and Lange-Nielsen syndrome type 2" "KCNE1 Jervell and Lange-Nielsen syndrome" + "CMTDIB" "SPG69" "4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione" "cycloheximide" "Cycloheximide" - "CMTDIB" "racemose aneurysm (morphologic abnormality)" "racemose aneurysm" "racemose angioma" @@ -167329,14 +167330,14 @@ "PIGT-CDG" "LFSS" "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" - "disorder of neural crest cell development" - "disorder of neural crest development" - "neural crest cell development disease" "anal canal epithelial neoplasm" "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" "intellectual disability, autosomal dominant 47" "Stomach hernia" "Hiatal hernia" + "disorder of neural crest cell development" + "disorder of neural crest development" + "neural crest cell development disease" "mitochondrial complex IV deficiency, nuclear type 17" "MC4DN17" "Hb-C disease" @@ -167789,6 +167790,10 @@ "Age of onset" "Age symptoms begin" "Non-X-linked CDG with intellectual disability as a major feature" + "CMT4K" + "SURF1-related CMT4" + "Charcot-Marie-Tooth disease type 4K" + "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" "SCID due to adenosine deaminase deficiency" "SCID due to ADA deficiency" "ADA" @@ -167800,23 +167805,19 @@ "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" - "CMT4K" - "SURF1-related CMT4" - "Charcot-Marie-Tooth disease type 4K" - "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" "blood serum translin amount" "blood serum Ras-related protein Rab-2A amount" + "common hematopoietic tumor" "CMTMA1" "malignant melanoma of retina" - "malignant retinal melanoma" "retinal melanoma" + "malignant retinal melanoma" "retina melanoma" "melanoma (disease) of retina" "melanoma of the retina" "melanoma of retina" "malignant melanoma of the retina" "retina melanoma (disease)" - "common hematopoietic tumor" "phosphatidylcholine 36:3" "genetic epidermal appendage anomaly" "XLTT" @@ -167862,8 +167863,8 @@ "promyelocytic leukaemia" "acute promyelocytic leukemia" "AML M3" - "APML" "APML" + "APML" "APML - acute promyelocytic leukemia" "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" "AML with t(15;17)(q22;q12)" @@ -168009,6 +168010,7 @@ "syndromic nail anomaly" "syndrome associated with nail anomaly" "blood serum late cornified envelope protein 3C amount" + "blood serum mitotic spindle assembly checkpoint protein MAD1 amount" "benign neoplasm of the anus" "benign tumour of the anus" "benign anal neoplasm" @@ -168040,7 +168042,6 @@ "Low number of red blood cells or haemoglobin" "Anaemia" "Low number of red blood cells or hemoglobin" - "blood serum mitotic spindle assembly checkpoint protein MAD1 amount" "blood serum large ribosomal subunit protein mL55 amount" "transplant, cornea" "keratoplasty" @@ -168314,8 +168315,8 @@ "clear cell sarcoma - kidney" "childhood kidney clear cell sarcoma" "childhood renal clear cell sarcoma" - "CCSK" "CCSK" + "CCSK" "paediatric renal clear cell sarcoma" "pediatric kidney clear cell sarcoma" "childhood clear cell sarcoma of the kidney" @@ -168390,8 +168391,8 @@ "blood serum growth hormone variant amount" "blood serum microtubule-associated tumor suppressor candidate 2 amount" "hepatocellular adenoma" - "HCA" "HCA" + "HCA" "adenoma of liver cells" "adenoma, hepatocellular, benign" "adenoma of the liver cells" @@ -168563,8 +168564,8 @@ "Schindler disease, type III" "Schindler disease type 1" "NAGA deficiency type 1" - "MRTTTC549" "Proximal tibial hypopolasia" + "MRTTTC549" "Primrose syndrome" "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "SOD" @@ -168785,10 +168786,10 @@ "alimentary system" "genetic osteonecrosis" "bone necrosis of genetic origin" + "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" "Nasal voice" "Hypernasal voice" "Nasal speech" - "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" "acquired Fanconi syndrome" "EIEE35" "DEE35" @@ -169017,13 +169018,13 @@ "Abyssinian mustard" "Ethiopian mustard" "blood serum transmembrane and immunoglobulin domain-containing protein 2 amount" + "SLC35A3-CDG" "Pneumonia" "(22S)-3beta,22-dihydroxy-5alpha-campestan-6-one" "cathasterone" - "SLC35A3-CDG" + "TAG 54:7" "immunoglobulin G level" "IgG level" - "TAG 54:7" "blood serum interleukin-17 receptor B amount" "blood serum primate-type serum amyloid A-4 protein amount" "Antinolo-Nieto-Borrego syndrome" @@ -169267,9 +169268,9 @@ "brachydactyly-joint dysplasia syndrome" "Liebenberg syndrome" "disease of supporting structures of teeth" + "periodontium disease or disorder" "disease or disorder of periodontium" "periodontal disorder" - "periodontium disease or disorder" "periodontium disorder" "disease of periodontium" "periodontal disease" @@ -169286,9 +169287,9 @@ "plexopathy" "nerve plexus disease or disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" + "colorectal serrated adenocarcinoma" "mitral valve prolapse, myxomatous 2" "MMVP2" - "colorectal serrated adenocarcinoma" "Plasmodium falciparum (isolate 3D7)" "PLASMODIUM FALCIPARUM (ISOLATE 3D7)." "Inability to make and keep healthy fat tissue" @@ -169759,8 +169760,8 @@ "Del(8)q(13)" "mesomelia-synostoses syndrome" "Blurred vision" - "blood transaldolase amount" "PC 32:0" + "blood transaldolase amount" "camptodactyly-overgrowth-unusual facies syndrome" "WEAVER-like syndrome" "Weaver syndrome" @@ -170424,11 +170425,11 @@ "blood serum Ras-related protein Rab-31 amount" "blood serum semaphorin-3F amount" "blood serum probable RNA-binding protein EIF1AD amount" - "blood serum C-type lectin domain family 2 member A amount" "spherosome" "oleosome" "oil body" "oilbody" + "blood serum C-type lectin domain family 2 member A amount" "blood calmodulin-regulated spectrin-associated protein 1 amount" "Salmonella paratyphi" "Salmonella paratyphi-a" @@ -170497,12 +170498,12 @@ "malignant tonsillar neoplasm" "malignant neoplasm of palatine tonsil" "GM15227 cell" - "HIV" - "AIDS virus" "blood serum beta-defensin 1 amount" "tarsal-carpal coalition syndrome" "Chitosan" "(1->4)-2-amino-2-deoxy-beta-D-glucan" + "HIV" + "AIDS virus" "Pierson syndrome" "microcoria-congenital nephrosis syndrome" "blood serum protein argonaute-1 amount" @@ -170826,18 +170827,18 @@ "Abnormal shape of sperm" "hyperlipidemia" "hyperlipidemia (disease)" + "response to Opdivo" "Abnormality of the toenails" "Abnormality of the toenail" + "spinocerebellar ataxia 42" + "SCA42" + "spinocerebellar ataxia type 42" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" - "response to Opdivo" - "spinocerebellar ataxia 42" - "SCA42" - "spinocerebellar ataxia type 42" "arginase deficiency" "argininemia" "hyperargininemia" @@ -170850,8 +170851,8 @@ "polycythemia vera" "Osler-Vaquez syndrome" "polycythemia rubra vera" - "PV" "PV" + "PV" "polycythaemia rubra vera" "acquired polycythemia vera" "proliferative polycythaemia" @@ -171010,8 +171011,8 @@ "Carbohydrate deficient glycoprotein syndrome type IIb" "valvula cerebellum" "blood serum oligodendrocyte-myelin glycoprotein amount" - "blood serum insulin-like growth factor-binding protein 3 amount" "Jones syndrome" + "blood serum insulin-like growth factor-binding protein 3 amount" "jejunal neuroendocrine neoplasm" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" @@ -171639,7 +171640,6 @@ "Opitz trigonocephaly syndrome" "blood serum serpin A12 amount" "blood serum ER membrane protein complex subunit 4 amount" - "GM17257 cell" "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" "3-methylglutaconic aciduria type VII" "3-methylglutaconic aciduria type 7" @@ -171649,6 +171649,7 @@ "CLPB 3-methylglutaconic aciduria" "MGCA7" "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" + "GM17257 cell" "hexosaminidase A deficiency, juvenile form" "GM2 gangliosidosis, B variant, juvenile form" "Pterygium of nails" @@ -172223,8 +172224,8 @@ "unclassified pleomorphic sarcoma" "UPS" "UPS" - "MFH" "MFH" + "MFH" "adult undifferentiated pleomorphic sarcoma" "histiocytoma, fibrous, malignant" "malignant fibrous histiocytoma" @@ -172316,8 +172317,8 @@ "intraepithelial neoplasia of the vulva grade 1" "blood inactive carboxypeptidase-like protein X2 amount" "B-cell lymphocytic leukaemia" - "CLL" "CLL" + "CLL" "B-CLL" "BCLL" "BCLL" @@ -172526,12 +172527,12 @@ "perirhinal area" "perirhinal cortex" "blood T-cell leukemia/lymphoma protein 1A amount" - "OLP" "blood CD2-associated protein amount" "glucoamylase activity" "short rib-polydactyly syndrome type 4" "type IV short rib polydactyly syndrome" "Beemer-Langer syndrome" + "OLP" "Fanconi renotubular syndrome type 2" "SLC34A1 Fanconi syndrome" "Fanconi renotubular syndrome 2" @@ -172581,10 +172582,10 @@ "trichorhinophalangeal syndrome type 2" "trichorhinophalangeal dysplasia type II" "blood ATP-binding cassette sub-family A member 2 amount" + "blood serum signal recognition particle 14 kDa protein amount" "MGA5" "DCMA syndrome" "3-methylglutaconic aciduria type 5" - "blood serum signal recognition particle 14 kDa protein amount" "blood serum tissue factor pathway inhibitor 2 amount" "vitamin D receptor signalling pathway" "nuclear receptor-mediated vitamin D signaling pathway" @@ -172604,8 +172605,8 @@ "jejunal carcinoid tumor" "grade 1 neuroendocrine neoplasm of jejunum" "jejunum carcinoid tumour" - "jejunum carcinoid tumor (disease)" "jejunum neuroendocrine tumor, well differentiated, low grade" + "jejunum carcinoid tumor (disease)" "jejunum carcinoid tumor" "jejunum neuroendocrine neoplasm G1" "carcinoid tumour of jejunum" @@ -172738,8 +172739,6 @@ "congenital pulmonary lymphangiectasis" "Diffuse Pulmonary Lymphangiomatosis" "pulmonary lymphangiomatosis" - "papillary cystadenoma" - "cystadenoma, papillary, benign" "Incorrect relation between upper and lower dental arches" "Misalignment of upper and lower dental arches" "Malocclusion of teeth" @@ -172749,6 +172748,8 @@ "Malalignment of upper and lower dental arches" "Bilateral crossbite" "Malocclusion" + "papillary cystadenoma" + "cystadenoma, papillary, benign" "(1->3)-beta-D-glucopyranan" "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" "genochondromatosis" @@ -173781,8 +173782,8 @@ "chronic myelomonocytic leukemia" "juvenile chronic myeloid leukaemia" "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" - "JMML" "JMML" + "JMML" "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" "leukemia, juvenile myelomonocytic, somatic" "juvenile myelomonocytic leukemia" @@ -173847,8 +173848,8 @@ "H-2009" "NCIH2009" "blood serum immunoglobulin heavy constant alpha 1 amount" - "WDM" "WXS" + "WDM" "ARMD4" "macular Degeneration, age-related, type 4" "CFH age-related macular degeneration" @@ -173870,8 +173871,8 @@ "myoclonus, familial cortical" "familial cortical myoclonus" "blood serum Ras-related protein Rab-4A amount" - "vLDL cholesterol measurement" "CMT2N" + "vLDL cholesterol measurement" "thymic atrophy" "atrophied thymus" "atrophic thymus" @@ -174271,8 +174272,8 @@ "oculoectodermal syndrome" "oculoectodermal syndrome, somatic" "aplasia cutis congenita-epibulbar dermoids syndrome" - "2-aminooctanoate" "blood cornulin amount" + "2-aminooctanoate" "CE 18:2" "Increased plasma ACTH" "Increased circulating ACTH level" @@ -174559,6 +174560,7 @@ "granular cell neoplasm of the heart" "granular cell tumor of heart" "granular cell tumour of the heart" + "blood serum ornithine transcarbamylase, mitochondrial amount" "distal hereditary motor neuropathy type 6" "diaphragmatic spinal muscular atrophy" "dSMA1" @@ -174576,7 +174578,6 @@ "SMARD1" "autosomal recessive distal spinal muscular atrophy 1" "spinal muscular atrophy, distal, autosomal recessive, type 1" - "blood serum ornithine transcarbamylase, mitochondrial amount" "blood MHC class II histocompatibility antigen alpha chain DRA amount" "leiomyosarcoma of the uterine body" "leiomyosarcoma of the uterine corpus" @@ -174680,8 +174681,6 @@ "Tricho-hepato-enteric syndrome" "Syndromatic diarrhea" "SD/THE" - "Cryptophthalmos-syndactyly syndrome" - "Toriello syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -174691,6 +174690,8 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" + "Cryptophthalmos-syndactyly syndrome" + "Toriello syndrome" "Lassa fever" "LF" "Lassa Fever" @@ -174835,6 +174836,12 @@ "cystic, mucinous, and serous neoplasm" "blood a disintegrin and metalloproteinase with thrombospondin motifs 8 amount" "FGF23 measurement" + "spindle cell melanoma of the uvea" + "spindle cell uveal melanoma" + "uveal spindle cell melanoma" + "spindle cell melanoma of uvea" + "corneal dystrophy, endothelial, X-linked, X-linked dominant" + "XECD" "Vivax Malaria" "Plasmodium vivax malaria" "vivax malaria" @@ -174843,12 +174850,6 @@ "malaria by Plasmodium vivax" "Malaria, Vivax" "Vivax malaria [benign tertian]" - "spindle cell melanoma of the uvea" - "spindle cell uveal melanoma" - "uveal spindle cell melanoma" - "spindle cell melanoma of uvea" - "corneal dystrophy, endothelial, X-linked, X-linked dominant" - "XECD" "blood serum ezrin amount" "blood serum glycolipid transfer protein domain-containing protein 2 amount" "incomplete bilateral aplasia of the Müllerian ducts" @@ -175281,9 +175282,9 @@ "neurilemmoma of trigeminal nerve" "trigeminal neurilemmoma" "schwannoma of trigeminal nerve" - "trigeminal schwannoma" "schwannoma of the trigeminal nerve" "fifth cranial nerve schwannoma" + "trigeminal schwannoma" "neurilemmoma of the fifth cranial nerve" "mother's milk" "breast milk" @@ -175744,8 +175745,8 @@ "blood serum immunoglobulin lambda-like polypeptide 1 amount" "undifferentiated (embryonal) sarcoma" "embryonal sarcoma (undifferentiated sarcoma)" - "UES" "UES" + "UES" "sarcoma, undifferentiated, malignant" "embryonal sarcoma, undifferentiated" "embryonal sarcoma" @@ -176295,14 +176296,14 @@ "paraphimosis" "Paraphimosis (disorder)" "Paraphimosis" - "colleterial gland" - "female AcGl" - "parovarium" - "appendicular gland" "allergic form of urticaria" "allergic urticaria (disease)" "allergic form of urticaria (disease)" "allergic urticaria" + "colleterial gland" + "female AcGl" + "parovarium" + "appendicular gland" "OPTB" "autosomal recessive osteopetrosis" "osteopetrosis (disease), autosomal recessive" @@ -176931,11 +176932,6 @@ "blood GTP cyclohydrolase 1 feedback regulatory protein amount" "Involuntary rhythmic muscular contractions and relaxations" "Accumulation of fluid in the abdomen" - "juvenile rheumatoid factor-negative polyarthritis" - "rheumatoid factor-negative JIA" - "rheumatoid factor-negative juvenile idiopathic arthritis" - "rheumatoid factor negative juvenile idiopathic arthritis" - "polyarthritis without rheumatoid factor" "immature malignant teratoma of mediastinum" "immature malignant teratoma of the mediastinum" "mediastinum malignant teratoma" @@ -176943,6 +176939,11 @@ "malignant teratoma of the mediastinum" "malignant mediastinal teratoma" "blood serum histone deacetylase 2 amount" + "juvenile rheumatoid factor-negative polyarthritis" + "rheumatoid factor-negative JIA" + "rheumatoid factor-negative juvenile idiopathic arthritis" + "rheumatoid factor negative juvenile idiopathic arthritis" + "polyarthritis without rheumatoid factor" "blood serum lysine-specific demethylase 4C amount" "Osteonecrosis" "Ischemic bone necrosis" @@ -177028,13 +177029,15 @@ "DC.103-11b+.Lv" "relaxation of vascular smooth muscle" "vascular smooth muscle relaxation" - "blood serum slit homolog 1 protein amount" "Tibia vara Blount" "Osteochondrosis deformans tibiae" "Infantile tibia vara" + "blood serum slit homolog 1 protein amount" "TNDM" "transient neonatal diabetes mellitus (disease)" "transient neonatal diabetes mellitus" + "alopecia-progressive neurological defect-endocrinopathy syndrome" + "ANE syndrome" "bone of upper jaw tumor" "neoplasm of bone of upper jaw" "tumour of bone of upper jaw" @@ -177043,8 +177046,6 @@ "tumor of bone of upper jaw" "maxillary neoplasm" "bone of upper jaw neoplasm" - "alopecia-progressive neurological defect-endocrinopathy syndrome" - "ANE syndrome" "XPE" "xeroderma pigmentosum, complementation group type E" "xeroderma pigmentosum V" @@ -178053,11 +178054,6 @@ "Waaler-Aarskog syndrome" "Ferlini-Ragno-Calzolari syndrome" "blood serum dedicator of cytokinesis protein 2 amount" - "glycogen storage disease type VIII" - "Glycogen storage disease type VIII (disorder)" - "glycogenosis type VIII" - "hepatic glycogen phosphorylase kinase deficiency (disorder)" - "Glycogen Storage Disease Type VIII" "particular wear debris osteolysis" "demyelinating HMSN" "demyelinating hereditary motor and sensory neuropathy" @@ -178071,6 +178067,11 @@ "MPS3C" "mucopolysaccharidosis type IIIC" "Sanfilippo syndrome type C" + "glycogen storage disease type VIII" + "Glycogen storage disease type VIII (disorder)" + "glycogenosis type VIII" + "hepatic glycogen phosphorylase kinase deficiency (disorder)" + "Glycogen Storage Disease Type VIII" "HOXD13 brachydactyly type E" "brachydactyly type E caused by mutation in HOXD13" "BDE1" @@ -178177,10 +178178,10 @@ "Syndactyly - preaxial polydactyly - sternal deformity" "ACRP syndrome" "blood serum versican core protein amount" + "Scoliosis, thoracolumbar" "non-seasonal allergic rhinitis" "perennial allergic rhinitis" "nonseasonal allergic rhinitis" - "Scoliosis, thoracolumbar" "Streptomyces tanaschiensis" "Streptomyces tanaschimachiensis" "Streptomyces tanashiensis Hata et al. 1952" @@ -178335,14 +178336,14 @@ "Photogénodermatose" "Photogenodermatosis" "Genetic skin photosensitivity" + "level of PC(18:1_18:1) in blood serum" + "blood serum PC(18:1_18:1) amount" "Fifth finger clinodactyly" "Permanent curving of the pinkie finger" "Bilateral fifth finger clinodactyly" "Clinodactyly of fifth digit" "Clinodactyly of the little finger" "Bilateral fifth digit clinodactyly" - "level of PC(18:1_18:1) in blood serum" - "blood serum PC(18:1_18:1) amount" "alpha-sarcoglycanopathy" "blood serum 72 kDa type IV collagenase amount" "first cranial nerve neoplasm" @@ -178407,9 +178408,6 @@ "Structural abnormality of the chest wall" "Abnormality of the chest" "Abnormality of the thorax" - "blood serum tectonic-2 amount" - "Populus tremula L." - "European aspen" "carcinoma of the adrenal cortex" "malignant adrenocortical tumor" "adrenal cortical adenocarcinoma" @@ -178431,6 +178429,9 @@ "cancer of the adrenal cortex" "adrenal cortical carcinoma (morphologic abnormality)" "adenocarcinoma, adrenocortical, malignant" + "blood serum tectonic-2 amount" + "Populus tremula L." + "European aspen" "spinal cord meningioma (disease)" "meningioma of spinal cord" "spinal cord meningioma" @@ -178697,7 +178698,6 @@ "ALSP" "HDLS" "benign pancreatic tumour" - "benign tumour of pancreas" "benign tumor of pancreas" "benign pancreatic neoplasm" "pancreatic neoplasm, benign" @@ -178712,6 +178712,7 @@ "benign tumor of the pancreas" "pancreas neoplasm, benign" "benign tumour of the pancreas" + "benign tumour of pancreas" "blood serum 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 amount" "hereditary pheochromocytoma-paraganglioma" "familial pheochromocytoma-paraganglioma" @@ -178742,9 +178743,9 @@ "vermiform appendix carcinoid tumour (disease)" "vermiform appendix carcinoid tumor" "appendix neuroendocrine tumour G1 (carcinoid)" - "previtillogenic ovarian follicle" "Mucopolysaccharidosis type 9" "Mucopolysaccharidosis type IX" + "previtillogenic ovarian follicle" "fallopian tube serous cystadenofibroma" "fallopian tube cystadenofibroma" "cystadenofibroma of fallopian tube" @@ -179100,8 +179101,8 @@ "chondroma of the central nervous system" "central nervous system chondroma" "osteochondroma of CNS" - "osteochondroma of the CNS" "CNS osteochondroma" + "osteochondroma of the CNS" "CNS chondroma" "chondroma of the CNS" "osteochondroma of central nervous system" @@ -179201,11 +179202,11 @@ "Gaucher-like disease" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease type 3C" + "Pierre Robin sequence associated with collagen disease" "presbycusis" "age-related hearing loss" "age-related hearing impairment" "ARHI" - "Pierre Robin sequence associated with collagen disease" "Zlotogora-Ogur syndrome" "Zlotogora-Zilberman-Tenenbaum syndrome" "cleft lip/palate-ectodermal dysplasia syndrome" @@ -179264,7 +179265,6 @@ "blood serum FAS-associated death domain protein amount" "blood serum ubiquitin thioesterase ZRANB1 amount" "blood dynamin-binding protein amount" - "GRO:0005811" "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1" "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" @@ -179272,6 +179272,7 @@ "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" + "GRO:0005811" "Trypanosoma disease or disorder" "Trypanosoma infectious disease" "trypanosomiasis" @@ -180286,14 +180287,6 @@ "vitamin D-dependent rickets, type 1A" "Stalker-Chitayat syndrome" "rac-N(4)-{2,6-dimethoxy-4-methyl-5-[3-(trifluoromethyl)phenoxy]quinolin-8-yl}pentane-1,4-diamine" - "nut midline carcinoma" - "carcinoma with t(15;19)(q13;p13.1) translocation" - "Midline carcinoma of children and Young adults with NUT rearrangement" - "nuclear protein in testis midline carcinoma" - "NMC" - "NMC" - "NUT carcinoma" - "NUT Midline carcinoma" "herpes zoster ophthalmicus" "Herpes zoster with other ophthalmic complication (disorder)" "Ophthalmic herpes zoster infection" @@ -180303,6 +180296,14 @@ "Herpes zoster with ophthalmic complication (disorder)" "Herpes zoster ophthalmicus (disorder)" "Herpes Zoster Ophthalmicus" + "nut midline carcinoma" + "carcinoma with t(15;19)(q13;p13.1) translocation" + "Midline carcinoma of children and Young adults with NUT rearrangement" + "nuclear protein in testis midline carcinoma" + "NMC" + "NMC" + "NUT carcinoma" + "NUT Midline carcinoma" "HMN5A" "spinal muscular atrophy, distal, type 5A" "neuropathy, distal hereditary motor, type 5A" @@ -180790,8 +180791,8 @@ "chalazion" "meibomian gland lipogranuloma" "Chalazion" - "axon peripheral neuropathy" "axonal neuropathy" + "axon peripheral neuropathy" "peripheral neuropathy of axon" "age cancer symptoms begin" "age at onset of cancer" @@ -180987,11 +180988,11 @@ "fear of open spaces" "inflammation of cerebral artery" "cerebral artery inflammation" + "Wahab syndrome" + "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" "malignant mesothelioma (disease) of ovary" "ovarian malignant mesothelioma" "ovary malignant mesothelioma (disease)" - "Wahab syndrome" - "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" "mating_type_a" "a mating type (yeast)" "borna disease" @@ -181187,8 +181188,8 @@ "TIIAC" "blood serum transcriptional activator protein Pur-beta amount" "CNS disorder" - "disorder of central nervous system" "central nervous system disorder" + "disorder of central nervous system" "central nervous system disease or disorder" "disease or disorder of central nervous system" "disease of the central nervous system" @@ -181465,8 +181466,8 @@ "blood small ribosomal subunit protein bS16m amount" "knee" "follicular variant thyroid gland papillary carcinoma" - "FVPTC" "FVPTC" + "FVPTC" "PEX6 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX6 defect" "valvular heart disorder" @@ -181506,8 +181507,8 @@ "sarcoma of the meninges" "meningeal cluster sarcoma" "meninges sarcoma" - "meningeal sarcoma" "sarcoma of meninges" + "meningeal sarcoma" "sarcoma of meningeal cluster" "Tiedemann's gland" "Bartholin's gland" @@ -181679,8 +181680,8 @@ "oral cavity submucous fibrosis" "oral submucous fibrosis" "oral submucosal fibrosis, including of tongue" - "OSMF" "OSMF" + "OSMF" "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" "Holzgreve Wagner Rehder syndrome" "Holzgreve syndrome" @@ -182033,7 +182034,6 @@ "adult spinal cord ependymoma" "blood serum MHC class II histocompatibility antigen gamma chain amount" "HBs IgG measurement" - "immune system organ" "Phosphomannomutase 2 deficiency" "CDG-Ia" "CDG syndrome type Ia" @@ -182041,6 +182041,7 @@ "Carbohydrate deficient glycoprotein syndrome type Ia" "Congenital disorder of glycosylation type Ia" "Congenital disorder of glycosylation type 1a" + "immune system organ" "ring trophozoite stage" "spinocerebellar ataxia type 8" "SCA8" @@ -182053,8 +182054,8 @@ "Capra-DeMarco syndrome" "iron transport" "blood serum junctophilin-3 amount" - "OFMT" "OFMT" + "OFMT" "ossifying fibromyxoma" "ossifying fibromyxoid tumor" "ossifying fibromyxoid tumor (morphologic abnormality)" @@ -182351,6 +182352,8 @@ "blood serum desmoglein-3 amount" "blood serum DNA replication licensing factor MCM6 amount" "ADCY5-Related Dyskinesia" + "age glaucoma symptoms begin" + "age at onset of glaucoma" "bartholin gland carcinoma" "Bartholin's gland cancer" "Bartholin gland cancer" @@ -182360,8 +182363,6 @@ "Bartholin gland carcinoma (disease)" "carcinoma of Bartholin's gland" "carcinoma of the Bartholin's gland" - "age glaucoma symptoms begin" - "age at onset of glaucoma" "Salonen-Herva-Norio syndrome" "sarcoma of the vagina" "vaginal sarcoma" @@ -182495,14 +182496,14 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" "ACOGS" - "ischemic disease of retina" - "retina ischaemic disease" - "ischaemic disease of retina" - "retina ischemic disease" "pituitary gland apoplexy" "pituitary apoplexy" "Pituitary Apoplexy" "Pituitary apoplexy (disorder)" + "ischemic disease of retina" + "retina ischaemic disease" + "ischaemic disease of retina" + "retina ischemic disease" "trophoblast layer" "blood cadherin-related family member 2 amount" "Werdnig-Hoffmann Disease" @@ -182580,6 +182581,7 @@ "Pelizaeus-Merzbacher-like disease 1" "PMLD1" "blood coagulation factor VII amount" + "blood serum brain protein 44-like protein amount" "spinal fracture" "vertebral fracture" "vertebral column bone fracture" @@ -182588,7 +182590,6 @@ "Spinal Fractures" "fracture, vertebral" "Fractures, Spinal" - "blood serum brain protein 44-like protein amount" "hereditary spastic paraplegia caused by mutation in FARS2" "spastic paraplegia 77, autosomal recessive" "autosomal recessive spastic paraplegia 77" @@ -182796,8 +182797,8 @@ "Peripheral Nerve Neoplastic Infiltration" "Nerve Neoplasms, Peripheral" "tumour of the peripheral nerve" - "Peripheral Nerve Neoplasms, Malignant" "neoplasm of the PNS" + "Peripheral Nerve Neoplasms, Malignant" "tumor of peripheral nervous system" "PNS neoplasms" "Peripheral Nervous System Malignant Neoplasms" @@ -183127,8 +183128,9 @@ "bladder clear cell adenocarcinoma" "bladder mesonephric adenocarcinoma" "urinary bladder clear cell adenocarcinoma" - "asthma, nocturnal, susceptibility to" "Charcot-Marie-Tooth disease, dominant intermediate G" + "asthma, nocturnal, susceptibility to" + "Hodgkin's lymphoma of the spleen" "splenic Hodgkin's disease" "primary splenic Hodgkin's lymphoma" "Hodgkin's lymphoma of spleen" @@ -183137,7 +183139,6 @@ "splenic Hodgkin's lymphoma" "splenic Hodgkins lymphoma" "Hodgkin's disease of spleen" - "Hodgkin's lymphoma of the spleen" "blood cadherin EGF LAG seven-pass G-type receptor 2 amount" "blood replication protein A 32 kDa subunit amount" "blood uncharacterized protein C7orf50 amount" @@ -183200,8 +183201,8 @@ "human papilloma virus-related penile squamous cell carcinoma" "human papilloma virus related penile squamous cell carcinoma" "blood serum docking protein 2 amount" - "HCL" "HCL" + "HCL" "leukemic reticuloendotheliosis" "HCL-C" "hairy cell leukemia" @@ -183343,8 +183344,8 @@ "ovarian small cell cancer" "ovary small cell carcinoma" "small cell ovarian carcinoma" - "SCCO" "SCCO" + "SCCO" "small cell carcinoma of the ovary" "small cell carcinoma of ovary" "ovarian small cell carcinoma" @@ -183381,12 +183382,12 @@ "carcinoma of the eyelid" "HIBM4" "blood serum procollagen galactosyltransferase 1 amount" - "ALT" "ALT" + "ALT" "well-differentiated liposarcoma" "well differentiated liposarcoma of deep soft tissue" - "WDLS" "WDLS" + "WDLS" "well differentiated liposarcoma" "atypical lipoma" "atypical lipomatous tumor" @@ -183694,19 +183695,19 @@ "testicular granulosa cell tumor" "testis granulosa cell tumour" "blood serum protein phosphatase methylesterase 1 amount" - "CTCL" "CTCL" + "CTCL" "primary cutaneous T-cell non-Hodgkin lymphoma" "T-cell non-Hodgkin's lymphoma of the skin" "cutaneous T-cell non-Hodgkin lymphoma" "cutaneous T cell lymphoma" - "PCTCL" "PCTCL" + "PCTCL" "T-cell non-Hodgkin's lymphoma of skin" "cutaneous T-cell non-Hodgkin's lymphoma" "cutaneous T-cell lymphoma" - "primary cutaneous T-cell non-Hodgkin's lymphoma" "skin T-cell non-Hodgkin's lymphoma" + "primary cutaneous T-cell non-Hodgkin's lymphoma" "3-mercaptopyruvate sulfurtransferase deficiency" "Ampola syndrome" "inborn aspartate family amino acid metabolic process disorder" @@ -183723,6 +183724,8 @@ "neuronal ceroid lipofuscinosis, parry type" "autosomal dominant neuronal ceroid lipofuscinosis 4B" "CLN4B disease" + "rectal adenosquamous cancer" + "rectal adenosquamous carcinoma" "glycogen synthase deficiency" "glycogen storage disease type 0a" "GSD due to hepatic glycogen synthase deficiency" @@ -183732,8 +183735,6 @@ "glycogen storage disease due to glycogen synthase deficiency of liver" "glycogenosis type 0a" "glycogen storage disease due to hepatic glycogen synthase deficiency" - "rectal adenosquamous cancer" - "rectal adenosquamous carcinoma" "angioimmunoblastic lymphadenopathy" "angioimmunoblastic lymphadenopathy with Dysproteinemia" "lymphogranulomatosis X" @@ -183856,15 +183857,15 @@ "IBD5" "inflammatory bowel disease 5" "inflammatory bowel disease type 5" - "NSCHL" "NSCHL" + "NSCHL" "Hodgkin lymphoma, nodular sclerosis" "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" "nodular sclerosis Hodgkin lymphoma" "nodular sclerosis Hodgkin's lymphoma" "nodular sclerosis Classic Hodgkin lymphoma" - "NSHD" "NSHD" + "NSHD" "Hodgkin's nodular sclerosis" "nodular sclerosis classical Hodgkin lymphoma" "classical Hodgkin lymphoma, nodular sclerosis" @@ -184112,8 +184113,8 @@ "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" "sublingual gland tumour" "tumor of the sublingual gland" - "neoplasm of the sublingual gland" "sublingual gland neoplasm (disease)" + "neoplasm of the sublingual gland" "neoplasm of sublingual gland" "tumor of sublingual gland" "sublingual gland tumor" @@ -184184,8 +184185,8 @@ "FSH dystrophy" "Facioscapulohumeral myopathy" "dysembryoplastic neuroepithelial tumor" - "DNET" "DNET" + "DNET" "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" "DNT" "DNT" @@ -184460,7 +184461,6 @@ "interstitial nucleus of stria terminalis" "bed nuclei of the stria terminalis" "nucleus of stria terminalis" - "Hepatic ductopenia" "femoral cancer" "neoplasm of femur" "cancer of femur" @@ -184468,6 +184468,7 @@ "Femoral Neoplasms" "femur cancer" "malignant neoplasm of femur" + "Hepatic ductopenia" "movement disorders" "movement disorder" "movement disease" @@ -184495,12 +184496,12 @@ "immunodeficiency 15B" "SCID due to IKK2 deficiency" "immunodeficiency type 15" - "PEX13 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX13 defect" "Mononegavirales caused disease or disorder" "Mononegavirales infectious disease" "Mononegavirales Infections" "Mononegavirales disease or disorder" + "PEX13 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX13 defect" "blood serum serpin H1 amount" "5-fluoropyrimidine-2,4(1H,3H)-dione" "5-fluorouracil" @@ -184622,18 +184623,18 @@ "aneurysm of coronary vessels" "extracellular space of host" "interbranchial IV" - "blood serum EMI domain-containing protein 1 amount" "panniculus adiposus telae subcutaneae" "panniculus adiposus (tela subcutanea)" "subcutaneous fat layer" "fatty layer of subcutaneous tissue" "hypodermis fat layer" + "blood serum EMI domain-containing protein 1 amount" "BTI-TN-5B1-4" "Tn 5B1-4" - "nervus terminalis" "myopathy caused by mutation in FKRP" "FKRP-related myopathy" "FKRP myopathy" + "nervus terminalis" "fibroma" "fibroma, benign" "PSA measurement" @@ -185121,8 +185122,8 @@ "Respiratory distress requiring mechanical ventilation" "Respiratory distress requiring endotracheal intubation" "sense organ system organ" - "sensory organ" "sensory system organ" + "sensory organ" "organ of sense organ system" "sensory organ system organ" "organ of sensory organ system" @@ -185149,10 +185150,10 @@ "Venous ectasia" "blood serum mitochondrial import inner membrane translocase subunit Tim13 amount" "SM 18:1" + "GM17105 cell" "Herva disease" "Multiple contracture syndrome, Finnish type" "LCCS1" - "GM17105 cell" "matrix metalloproteinase (MMP)-degraded type I collagen (C1M) measurement" "MMP-mediated type I collagen degradation measurement" "type I collagen metabolite measurement" @@ -185600,8 +185601,8 @@ "Vas deferens" "vasa deferentia" "organ harvesting" - "VPED" "alcoholic pancreatitis" + "VPED" "PEX14 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX14 defect" "Hornstein-Knickenberg syndrome" @@ -185616,8 +185617,8 @@ "Fanconi anemia complementation group type V" "Fanconi anaemia complementation group type V" "Fanconi anaemia caused by mutation in MAD2L2" - "MZL" "MZL" + "MZL" "marginal zone lymphoma" "marginal zone B-cell lymphoma" "lymphoma of marginal zone B cell" @@ -186285,7 +186286,6 @@ "fracture of neck of femur" "spermatogenic failure 66" "SPGF66" - "diffuse lipomatosis" "glutaric acidemia type 2" "Glutaric Aciduria Type II" "glutaric aciduria, type 2" @@ -186309,6 +186309,7 @@ "vaginal yolk Sac neoplasm" "vaginal endodermal sinus tumour" "vaginal yolk Sac tumour" + "diffuse lipomatosis" "blood serum forkhead box protein L2 amount" "blood Clots" "clot, blood" @@ -186358,10 +186359,6 @@ "neurodegenerative disease of cerebellum" "cerebellar degeneration" "cerebellar Degeneration" - "Decreased volume of lip" - "Decreased volume of lip vermillion" - "Thin vermillion" - "Thin lips" "secondary hypertrophic osteoarthropathy" "Bamberger-Marie disease" "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" @@ -186371,6 +186368,10 @@ "hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]" "HPOA - hypertrophic pulmonary osteoarthropathy" "hypertrophic pulmonary osteoarthropathy" + "Decreased volume of lip" + "Decreased volume of lip vermillion" + "Thin vermillion" + "Thin lips" "candidiasis, familial, 4" "candidiasis, familial, type 4" "CLEC7A familial chronic mucocutaneous candidiasis" @@ -186618,9 +186619,9 @@ "piperine" "1-[(2E,4E)-5-(1,3-benzodioxol-5-yl)penta-2,4-dienoyl]piperidine" "Piperine" + "blood MHC class I polypeptide-related sequence B amount" "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" "OSLAM syndrome" - "blood MHC class I polypeptide-related sequence B amount" "oxcarbazepine-induced hyponatraemia" "oxcarbazepine induced hyponatremia" "blood receptor-type tyrosine-protein phosphatase N2 amount" @@ -186734,8 +186735,8 @@ "carcinoma of the kidney collecting duct" "carcinoma of collecting duct of renal tubule" "renal collecting duct carcinoma" - "BDC" "BDC" + "BDC" "Bellini carcinoma" "collecting duct of renal tubule carcinoma" "kidney collecting duct carcinoma" @@ -187038,15 +187039,15 @@ "nematode" "roundworms" "nematodes" - "apparatus respiratorius vein" - "vein of apparatus respiratorius" - "respiratory system vein" - "vein of respiratory system" "LCA8" "CRB1 Leber congenital amaurosis" "Leber congenital amaurosis type 8" "Leber congenital amaurosis 8" "Leber congenital amaurosis caused by mutation in CRB1" + "apparatus respiratorius vein" + "vein of apparatus respiratorius" + "respiratory system vein" + "vein of respiratory system" "RTS2" "poikiloderma of Rothmund-Thomson type 2" "Rothmund-Thomson syndrome, type 2" @@ -187367,10 +187368,10 @@ "portion of blood plasma" "blood plasm" "blood N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 amount" + "TAG 50:3" + "SM 22:1" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" - "SM 22:1" - "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -187419,16 +187420,16 @@ "malignant tumor of uterine endocervix" "malignant endocervical tumor" "macrodactyly of hand" + "fetus/embryo hypoxia" + "embryo/fetus hyposia" + "intrauterine hypoxia" + "embryo hypoxia" "blood serum nuclear protein MDM1 amount" "cardiomyopathy, dilated, type 1Hh" "BAG3 familial isolated dilated cardiomyopathy" "CMD1HH" "familial isolated dilated cardiomyopathy caused by mutation in BAG3" "dilated cardiomyopathy type 1HH" - "fetus/embryo hypoxia" - "embryo/fetus hyposia" - "intrauterine hypoxia" - "embryo hypoxia" "age systemic lupus erythematosus symptoms begin" "age at onset of systemic lupus erythematosus" "blood serum protocadherin beta-10 amount" @@ -187646,6 +187647,7 @@ "duct of salivary gland carcinoma" "high grade salivary duct carcinoma" "carcinoma of duct of salivary gland" + "snRNA-seq" "autosomal recessive spinocerebellar ataxia type 12" "SCAR12" "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -187667,7 +187669,6 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" - "snRNA-seq" "GDAP1 Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth neuropathy type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -187885,9 +187886,9 @@ "giant axonal neuropathy caused by mutation in DCAF8" "CMT2 with giant axons" "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" + "CE 14:0" "fenazaquin" "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" - "CE 14:0" "F1-F0 complex" "hydrogen-transporting ATP synthase complex" "hydrogen-translocating F-type ATPase complex" @@ -188384,8 +188385,8 @@ "(2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride" "urinary albumin excretion" "etanercept" - "blood serum sclerostin domain-containing protein 1 amount" "benign uterine ligament neoplasm" + "blood serum sclerostin domain-containing protein 1 amount" "ECC-1 cell" "ECC1" "EnCa1" @@ -188438,6 +188439,7 @@ "muskmelon" "Oriental melon" "Cucurbita melo L." + "Chitty-Hall-Baraitser syndrome" "small cell carcinoma of urinary bladder" "small cell neuroendocrine carcinoma of the urinary bladder" "bladder small cell neuroendocrine carcinoma" @@ -188445,14 +188447,13 @@ "small cell neuroendocrine carcinoma of urinary bladder" "urinary bladder small cell carcinoma" "urinary bladder small cell neuroendocrine carcinoma" - "SCCB" "SCCB" + "SCCB" "small cell/neuroendocrine carcinoma of urinary bladder" "bladder small cell neuroendocrine cancer" "small cell carcinoma of the urinary bladder" "poorly differentiated neuroendocrine carcinoma of the bladder" "small cell bladder cancer" - "Chitty-Hall-Baraitser syndrome" "blood serum N-alpha-acetyltransferase 20 amount" "Isochromosome type Y" "ABSD" @@ -188460,9 +188461,9 @@ "Athabaskan brainstem dysgenesis syndrome" "Navajo brainstem syndrome" "intimal sarcoma" + "SPG72" "acromesomelic dysplasia, Maroteaux type" "acromesomelic dysplasia 1, Maroteaux type" - "SPG72" "large artery stroke" "atherosclerotic stroke" "potassium" @@ -188491,11 +188492,11 @@ "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" "MSMD due to complete IFNgammaR2 deficiency" "MSMD due to complete interferon gamma receptor 2 deficiency" + "blood serum pleckstrin homology domain-containing family A member 3 amount" "Blood/Injury Phobia" "blood-injury phobia" "blood phobia" "Blood-injection-injury type phobia" - "blood serum pleckstrin homology domain-containing family A member 3 amount" "Dehalococcoides ethenogenes strain 195" "Dehalococcoides ethenogenes str. 195" "cerebral thrombosis" @@ -188636,8 +188637,8 @@ "fetomaternal hemorrhage" "fetal maternal hemorrhage" "fetal-maternal hemorrhage" - "blood serum protocadherin beta-2 amount" "T-B+ SCID due to IL-7Ralpha deficiency" + "blood serum protocadherin beta-2 amount" "AML, del(13)(q14q21)" "AML, del(13q14-q21)" "AML, del(13)(q14-q21)" @@ -188825,10 +188826,10 @@ "mucolipidosis type II alpha/beta" "I Cell Disease" "blood serum endoplasmic reticulum membrane sensor NFE2L1 amount" + "lysophosphatidylcholine 18:2" "Lactobacillus ferintoshensis" "Lactobacillus ferintoshensis Simpson et al. 2002" "Lactobacillus parabuchneri Farrow et al. 1989" - "lysophosphatidylcholine 18:2" "blood serum cullin-9 amount" "blood serum E3 ubiquitin-protein ligase CBL amount" "blood serum superoxide dismutase [Cu-Zn] amount" @@ -189133,7 +189134,6 @@ "array_manufacturer" "switchgrass" "blood serum zinc finger CCHC domain-containing protein 17 amount" - "blood protein LEG1 homolog amount" "small intestinal fibrosarcoma" "fibrosarcoma of the small bowel" "fibrosarcoma of the small intestine" @@ -189143,6 +189143,7 @@ "small intestine fibrosarcoma" "fibrosarcoma of small intestine" "fibrosarcoma, small intestine" + "blood protein LEG1 homolog amount" "blood neurofilament light polypeptide amount" "blood septin-7 amount" "blood serum transcription elongation factor A protein-like 8 amount" @@ -189343,9 +189344,9 @@ "saliva-secreting gland neoplasm (disease)" "tumor of the salivary gland" "saliva-secreting gland neoplasm" + "tumour of saliva-secreting gland" "salivary gland tumour" "neoplasm of the salivary gland" - "tumour of saliva-secreting gland" "salivary gland neoplasm" "tumor of saliva-secreting gland" "neoplasm of saliva-secreting gland" @@ -189436,12 +189437,12 @@ "Vestibular Schwann cell tumor" "Vestibular Schwann cell tumour" "epencephalon-1" + "Poikiloderma of Rothmund-Thomson type 1" + "RTS1" "MPSVI, slowly progressing" "MPS6, slowly progressing" "mucopolysaccharidosis type VI, slowly progressing" "arylsulfatase B deficiency, slowly progressing" - "Poikiloderma of Rothmund-Thomson type 1" - "RTS1" "adenomatous polyp of colon" "adenomatous colonic polyposis" "multiple colonic adenomatous polyps" @@ -189947,11 +189948,11 @@ "level of PC(14:0_18:1) in blood serum" "blood serum PC(14:0_18:1) amount" "parietal epithelial layer" - "Bowman's parietal epithelium" "renal glomerular capsule epithelium" + "Bowman's parietal epithelium" "parietal layer of glomerular capsule" - "outer layer of glomerular capsule" "parietal capsular epithelium" + "outer layer of glomerular capsule" "glomerular capsule parietal layer" "parietal epithelium of Bowman's capsule" "parietal layer of Bowman capsule" @@ -190147,15 +190148,15 @@ "mitochondrial complex deficiency caused by mutation in ATP5F1A" "MC5DN4B" "ATP5F1A mitochondrial complex deficiency" + "dysplasia of the colon" + "dysplasia of colon" + "colonic dysplasia" + "colon dysplasia" "CMT1F" "Charcot-Marie-Tooth disease, type 1F" "NEFL Charcot-Marie-Tooth disease type 1" "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" "Charcot-Marie-Tooth neuropathy type 1F" - "dysplasia of the colon" - "dysplasia of colon" - "colonic dysplasia" - "colon dysplasia" "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (9Z,12Z)-octadeca-9,12-dienoate" "cloaca" "anal pad" @@ -190378,12 +190379,12 @@ "SLSN" "Renal dysplasia - retinal aplasia" "Nephronophthisis with retinal dystrophy" - "Abnormality of the forehead soft spot" - "Abnormality of the anterior fontanelle" "combined oxidative phosphorylation deficiency caused by mutation in VARS2" "COXPD20" "combined oxidative phosphorylation deficiency type 20" "VARS2 combined oxidative phosphorylation deficiency" + "Abnormality of the forehead soft spot" + "Abnormality of the anterior fontanelle" "hereditary thrombophilia due to congenital HRG deficiency" "thrombophilia 11 due to HRG deficiency" "N-(4-aminobutyl)acetamide" @@ -190475,7 +190476,6 @@ "Halal-Setton-Wang syndrome" "Pink eye" "Sharma-Kapoor-Ramji syndrome" - "Spherophakia - brachymorphia" "blood serum hemoglobin subunit gamma-2 amount" "rhabdomyosarcoma (disease) of extrahepatic bile duct" "rhabdomyosarcoma of extrahepatic bile duct" @@ -190485,6 +190485,7 @@ "bile duct rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the extrahepatic bile duct" "blood serum calsenilin amount" + "Spherophakia - brachymorphia" "4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide" "blood serum AN1-type zinc finger protein 1 amount" "ONT P2 Solo" @@ -191512,11 +191513,11 @@ "Weight faltering" "Postnatal failure to thrive" "Faltering weight" + "hydroxyeicosatetraenoic acid" "Rupture of tendons" "Tendon/muscle rupture" "Ruptured tendon" "Tendon rupture" - "hydroxyeicosatetraenoic acid" "blood serum EKC/KEOPS complex subunit TPRKB amount" "neurodevelopmental disorder with or without seizures and gait abnormalities" "muscular dystrophy, limb-girdle, type 2X" @@ -191652,11 +191653,11 @@ "17-beta-hydroxysteroid dehydrogenase 3 deficiency" "17-ketoreductase deficiency" "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" + "MKV seropositivity" "Anhydrosis" "Sweating dysfunction" "Sudomotor dysfunction" "Lack of sweating" - "MKV seropositivity" "EDS/OI syndrome" "Dowling-Degos disease 1" "Dowling-Degos disease caused by mutation in KRT5" @@ -191837,8 +191838,8 @@ "ependymal neoplasm of the spinal cord" "ependymoma of the spinal cord" "spinal cord ependymoma" - "GWCD" "blood serum plexin-A4 amount" + "GWCD" "malignant peripheral nerve sheath tumour with rhabdomyosarcoma" "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" "malignant Triton tumour" @@ -191913,11 +191914,11 @@ "bronchus disease" "blood serum beta-1,4-galactosyltransferase 2 amount" "hand dermatosis" - "blood serum glutamate--cysteine ligase regulatory subunit amount" "Gliocladium flavofuscum" "Trichoderma flavofuscum" "Trichoderma virens" "Gliocladium virens" + "blood serum glutamate--cysteine ligase regulatory subunit amount" "blood serum gem-associated protein 7 amount" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" @@ -191929,7 +191930,6 @@ "Isovalericacidemia" "isovaleric acid CoA dehydrogenase deficiency" "isovaleryl-CoA dehydrogenase deficiency" - "tumor of hematopoietic and lymphoid tissues" "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" "hypomyelinating leukodystrophy type 4" "mitochondrial HSP60 chaperonopathy" @@ -191938,6 +191938,7 @@ "HSPD1 leukodystrophy" "MitCHAP60 disease" "leukodystrophy caused by mutation in HSPD1" + "tumor of hematopoietic and lymphoid tissues" "blood serum retinoid-binding protein 7 amount" "blood enolase-phosphatase E1 amount" "influenza, severe, susceptibility to" @@ -192120,9 +192121,9 @@ "capillary angioma of the eyelid" "eyelid capillary hemangioma" "capillary hemangioma of eyelid" + "eyelid capillary angioma" "capillary hemangioma of the lid" "capillary angioma of eyelid" - "eyelid capillary angioma" "Niemann-Pick disease type C, classic form" "disorder of porphyrin-containing compound metabolic process" "disorder of porphyrin metabolism" @@ -192537,8 +192538,8 @@ "strongyloidiasis" "Infection by Strongyloides (disorder)" "Strongyloidiasis" - "blood serum Phosphatidylcholine (O-18:2_18:1) amount" "blood serum ER membrane protein complex subunit 5 amount" + "blood serum Phosphatidylcholine (O-18:2_18:1) amount" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Cheesemania enysii" "Pachycladon cheesemanii Heenan & A.D.Mitch." @@ -192629,7 +192630,6 @@ "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" "POMK muscular dystrophy-dystroglycanopathy, type A" "blood serum PR domain zinc finger protein 4 amount" - "TAG 52:2" "dicrocoeliasis" "Dicrocoelium infectious disease" "disease due to Dicrocoeliidae (disorder)" @@ -192638,6 +192638,7 @@ "Dicrocoelium disease or disorder" "Dicrocoeliasis" "disease due to Dicrocoeliidae" + "TAG 52:2" "Optic Nerve Head" "Optic Disk" "Optic Papilla" @@ -192656,6 +192657,7 @@ "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" "Rabson-Mendenhall syndrome" + "T-B+ SCID due to CD45 deficiency" "Monteggia's fracture of ulna" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" @@ -192669,9 +192671,8 @@ "immunodeficiency 27B" "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" - "T-B+ SCID due to CD45 deficiency" - "AML, t(11;15)(p15;q35)" "dental pain" + "AML, t(11;15)(p15;q35)" "hereditary spastic paraplegia type 48" "SPG48" "hereditary spastic paraplegia caused by mutation in AP5Z1" @@ -192679,14 +192680,14 @@ "autosomal recessive spastic paraplegia 48" "AP5Z1 hereditary spastic paraplegia" "nonsyndromic aniridia" + "GM15223 cell" "leukemia plasmacytic" - "PCL" "PCL" + "PCL" "leukaemia plasmacytic" "plasmacytic leukaemia" "plasma cell leukemia" "plasmacytic leukemia" - "GM15223 cell" "blood heme-binding protein 1 amount" "blood serum RNA-binding protein 24 amount" "Limb, scalp and skull defects" @@ -192772,10 +192773,10 @@ "partial deletion of the short arm of chromosome 20" "partial monosomy of the short arm of chromosome type 20" "partial monosomy of chromosome 20p" - "blood serum latexin amount" "bile duct in situ carcinoma" "stage 0 bile duct carcinoma" "carcinoma in situ of bile duct" + "blood serum latexin amount" "blood serum cytosolic endo-beta-N-acetylglucosaminidase amount" "Convulsive encephalopathy" "blood amyloid-beta precursor protein amount" @@ -192837,9 +192838,9 @@ "PRP" "hereditary pityriasis rubra pilaris" "pityriasis rubra pilaris--familial type" + "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "DRRD" "rhegmatogenous retinal detachment, autosomal dominant" - "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "blood serum growth/differentiation factor 3 amount" "sexual disorder" "partial monosomy of the short arm of chromosome type 17" @@ -192886,13 +192887,13 @@ "malignant neoplasm of renal pelvis" "malignant neoplasm of the renal pelvis" "cancer of renal pelvis" + "blood serine hydroxymethyltransferase, cytosolic amount" "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" "CHARGE syndrome" "Hall-Hittner syndrome" "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" "CHARGE association" "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" - "blood serine hydroxymethyltransferase, cytosolic amount" "Diffuse brain atrophy" "Generalized brain atrophy" "Generalised brain atrophy" @@ -193144,7 +193145,6 @@ "benign tumor of pituitary gland" "benign tumour of the pituitary" "blood serum bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial amount" - "blood serum interleukin-21 amount" "Saccharomonas lindneri" "Saccharomonas lindneri" "Zymomonas anaerobia" @@ -193161,6 +193161,7 @@ "Thermobacterium mobile" "grape powdery mildew" "Uncinula necator" + "blood serum interleukin-21 amount" "blood serum Dr1-associated corepressor amount" "insulin Resistance syndrome" "hexanedioic acid" @@ -193192,8 +193193,8 @@ "pigeon-breeder lung disease" "bird fancier lung" "bird-fanciers' lung" - "pigeon breeder's lung" "Avian hypersensitivity Pneumonitis" + "pigeon breeder's lung" "Bird Fancier's Lung" "Avian hypersensitivity pneumonitis" "bird fancier's lung" @@ -193255,9 +193256,6 @@ "submandibular gland lymphadenitis (disease)" "lymphadenitis (disease) of submandibular gland" "submandibular lymphadenitis" - "Long QT syndrome type 8" - "Long QT syndrome - syndactyly" - "LQT8" "Gastrointestinal polyposis - ectodermal changes" "Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes" "cancer of great vessel of heart" @@ -193269,6 +193267,9 @@ "great vessel of heart cancer" "great vessel cancer" "Ataxia - diabetes - goiter - gonadal insufficiency" + "Long QT syndrome type 8" + "Long QT syndrome - syndactyly" + "LQT8" "blood serum SUN domain-containing protein 5 amount" "blood glutathione reductase, mitochondrial amount" "Secondary pulmonary arterial hypertension" @@ -193342,9 +193343,9 @@ "mtDNA maintenance syndrome" "inborn error of mitochondrial genome maintenance" "rare inborn error of mitochondrial genome maintenance" - "blood serum NADH-cytochrome b5 reductase 3 amount" "pneumonia due to anaerobes" "pneumonia due to anaerobic bacteria" + "blood serum NADH-cytochrome b5 reductase 3 amount" "(2R)-2-[(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyloxy]-3-(octadecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" "SEPN1-related myopathy" "SELENON-related myopathy" @@ -193428,7 +193429,6 @@ "fructose metabolism" "blood serum 60S ribosome subunit biogenesis protein NIP7 amount" "synthetic lactate media" - "mucous membrane of esophagus" "esophagus mucous membrane" "lamina muscularis mucosae oesophageae" "tunica mucosa oesophageae" @@ -193443,6 +193443,7 @@ "tunica mucosa oesophagi" "mucosa of esophagus" "esophagus mucosa" + "mucous membrane of esophagus" "blood serum ubiquitin-conjugating enzyme E2 H amount" "Abnormality of blood vessels" "Vascular abnormalities" @@ -193688,8 +193689,8 @@ "MEB disease with bilateral multicystic leucodystrophy" "hypertrichosis (disease) of eyelid" "eyelid hypertrichosis (disease)" - "blood serum zinc finger protein 134 amount" "TAG 52:3" + "blood serum zinc finger protein 134 amount" "Infection by Dictyocaulus (disorder)" "Dictyocaulus disease or disorder" "Dictyocaulus Infections" @@ -193726,7 +193727,6 @@ "BPIDS" "oculocerebrofacial syndrome, Kaufman type" "blepharophimosis-ptosis-intellectual disability syndrome" - "benign Major salivary gland tumour" "benign tumor of Major salivary gland" "major salivary gland benign neoplasm" "benign Major salivary gland neoplasm" @@ -193735,6 +193735,7 @@ "benign neoplasm of the Major salivary gland" "benign tumor of the Major salivary gland" "benign tumour of Major salivary gland" + "benign Major salivary gland tumour" "severe congenital hypochromic sideroblastic anaemia" "severe congenital hypochromic sideroblastic anemia" "anemia, hypochromic microcytic, with iron overload type 2" @@ -193993,14 +193994,14 @@ "cerebral palsy, spastic quadriplegic, type 1" "Freckles in groin region" "LAPC4" + "blood serum Rab GDP dissociation inhibitor alpha amount" + "height" "Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual disability - ear anomalies syndrome" "Congenital disorder of glycosylation due to PIGL deficiency" "Neuroectodermal syndrome, Zunich type" "Neuroectodermal dysplasia, CHIME type" "Zunich-Kaye syndrome" "PIGL-CDG" - "blood serum Rab GDP dissociation inhibitor alpha amount" - "height" "bFGF" "growth retardation with deafness and mental retardation due to IGF1 deficiency" "IGF-1 deficiency" @@ -194213,6 +194214,7 @@ "Bacillus mallei" "Loefferella mallei" "Actinobacillus mallei" + "blood protein GPR15LG amount" "overproduction of ACTH" "corticotropin-dependent Cushing syndrome" "pituitary-dependent Cushing disease" @@ -194222,7 +194224,6 @@ "Overproduction of ACTH" "Pituitary ACTH Hypersecretion" "pituitary-dependent Cushing's disease" - "blood protein GPR15LG amount" "blood serum KH domain-containing, RNA-binding, signal transduction-associated protein 2 amount" "Fryns macrocephaly" "blood serum basic leucine zipper transcriptional factor ATF-like amount" @@ -194459,15 +194460,15 @@ "endotheliocyte" "Hyde Forster-McCarthy-Berry syndrome" "Angelman syndrome due to maternal monosomy 15q11q13" + " 静止中心" + "Thalidomide" + "rac-2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione" "SYCE1 azoospermia" "azoospermia caused by mutation in SYCE1" "spermatogenic failure 15; SPGF15" "SPGF15" "spermatogenic failure 15" "spermatogenic failure type 15" - " 静止中心" - "Thalidomide" - "rac-2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione" "level of PC(18:1_20:4) in blood serum" "blood serum PC(18:1_20:4) amount" "myometrial cells" @@ -194522,6 +194523,7 @@ "GM07404D" "GM07404" "GM07404A" + "bitter taste sensitivity trait" "Brain Ischemias" "Encephalopathy, Ischemic" "Ischemia, Cerebral" @@ -194533,7 +194535,6 @@ "Ischemic Encephalopathy" "Cerebral Ischemia" "Ischemias, Cerebral" - "bitter taste sensitivity trait" "Juvenile:Days 45-89" "Al-Gazali syndrome" "Lack of language development" @@ -194572,8 +194573,8 @@ "hyperparathyroidism due to renal insufficiency" "blood otoancorin amount" "ND00259 cell" - "blood serum calcipressin-1 amount" "non-Zellweger spectrum disorder" + "blood serum calcipressin-1 amount" "Peste-des-Petits-Ruminants" "Ovine rinderpest" "Goat plague" @@ -194791,11 +194792,11 @@ "benign tumour of the minor salivary gland" "benign minor salivary gland tumor" "SPG75" - "DYSF Miyoshi myopathy" - "Miyoshi myopathy caused by mutation in DYSF" "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" "familial isolated arrhythmogenic ventricular dysplasia, classic form" "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" + "DYSF Miyoshi myopathy" + "Miyoshi myopathy caused by mutation in DYSF" "Abnormality of the upper limb" "Abnormality of the arm" "cancer-related pain" @@ -194923,8 +194924,8 @@ "fin buds" "Hepatocholangiocellular adenoma" "Hepatocholangioma" - "Cholangioma" "bile duct adenoma" + "Cholangioma" "Cholangioadenoma" "adenoma of bile duct" "bile duct adenoma (morphologic abnormality)" @@ -194963,8 +194964,8 @@ "ectropion of eyelid" "ectropion (disease)" "COL4A1-related disorders" - "Spondyloepimetaphyseal dysplasia, Sponastrime type" "blood adhesion G-protein coupled receptor D1 amount" + "Spondyloepimetaphyseal dysplasia, Sponastrime type" "tricyclo[3.3.1.1(3,7)]tetraarsoxane" "diarsenic trioxide" "disease or disorder of sebaceous gland" @@ -195064,10 +195065,10 @@ "neoplasm of brachial nerve plexus" "neoplasm of the brachial plexus" "tumor of the brachial plexus" - "neoplasm of brachial plexus" "brachial plexus neoplasms" "brachial nerve plexus tumour" "brachial nerve plexus neoplasm" + "neoplasm of brachial plexus" "brachial plexus tumour" "tumour of the brachial plexus" "brachial plexus tumor" @@ -195248,19 +195249,15 @@ "Classic Joubert syndrome" "blood serum complement C1q tumor necrosis factor-related protein 4 amount" "GM17117 cell" + "7-chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one" + "Diazepam" + "trichorhinophalangeal syndrome type 1 and 3" "Subtelomeric 1p36 deletion" "Del(1)(p36)" "Deletion 1pter" "Monosomy 1pter" "Deletion 1p36" "Monosomy 1p36" - "7-chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one" - "Diazepam" - "trichorhinophalangeal syndrome type 1 and 3" - "blood phosphate level" - "serum inorganic phosphorus concentration" - "Serum phosphate level" - "serum inorganic phosphate concentration" "Sciaena labrax" "Dicentrarchus labrax (Linnaeus, 1758)" "Morone labrax" @@ -195273,6 +195270,10 @@ "desmoplastic cutaneous (skin) melanoma" "desmoplastic melanoma" "brachial plexus" + "blood phosphate level" + "serum inorganic phosphorus concentration" + "Serum phosphate level" + "serum inorganic phosphate concentration" "blood serum CYFIP-related Rac1 interactor A amount" "Neuroaspergillosis" "neuroaspergillosis" @@ -195308,8 +195309,8 @@ "blood serum lymphocyte antigen 6 complex locus protein G6d amount" "placental-site gestational trophoblastic tumour" "placental site gestational trophoblastic tumor" - "PSST" "PSST" + "PSST" "placental site trophoblastic tumor" "placental-site gestational trophoblastic tumor" "placental site trophoblastic tumor (morphologic abnormality)" @@ -195367,9 +195368,9 @@ "Keratitis, Herpetic" "PAC-Seq" "GM17818 cell" - "GM17740 cell" "25-hydroxycalciferol" "25-hydroxyergocalciferol" + "GM17740 cell" "MMP-1" "inborn error of cellular copper ion homeostasis" "inborn cellular copper ion homeostasis disorder" @@ -195497,9 +195498,9 @@ "Hypoprothrombinemia" "Dysprothrombinemia" "TNC" + "blood serum vacuolar protein sorting-associated protein 4A amount" "DAS28" "disease activity score" - "blood serum vacuolar protein sorting-associated protein 4A amount" "spermatogenic failure 49" "SPGF49" "Monacrosporium haptotylum" @@ -195542,13 +195543,13 @@ "childhood brainstem astrocytoma" "pediatric brain stem astrocytic neoplasm" "paediatric brain stem astrocytic neoplasm" - "Visium CytAssist" "Dental abnormality" "Dental abnormalities" "Dental abnormalities" "Dental anomalies" "Abnormal teeth" "Abnormal dentition" + "Visium CytAssist" "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" @@ -195561,9 +195562,6 @@ "mixed cell uveal melanoma of optic choroid" "choroid mixed cell melanoma" "optic choroid mixed cell uveal melanoma" - "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" - "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" - "PEBAT" "L-arginine:glycine amidinotransferase deficiency" "arginine:glycine amidinotransferase deficiency" "AGAT deficiency" @@ -195575,6 +195573,9 @@ "cerebral creatine deficiency syndrome 3" "disorder of glycine amidinotransferase activity" "blood serum semenogelin-1 amount" + "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" + "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" + "PEBAT" "Selective tooth agenesis" "blood serum sperm protein associated with the nucleus on the X chromosome A amount" "persian gulf syndrome" @@ -195589,8 +195590,8 @@ "Emanuel syndrome" "Der(22)t(11;22) syndrome" "blood beta-glucuronidase amount" - "bilateral renal dysplasia" "blood serum nuclear receptor coactivator 7 amount" + "bilateral renal dysplasia" "blood serum Rho GDP-dissociation inhibitor 2 amount" "neurocranial trabeculae" "male inflorescence" @@ -195678,6 +195679,8 @@ "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" + "MCV" + "mean cell volume" "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" "UPD(15)pat" "renal pelvis plus ureter" @@ -195716,8 +195719,6 @@ "chronic kidney failure" "Kidney Insufficiencies, Chronic" "Chronic Renal Failure" - "MCV" - "mean cell volume" "tadpole stage" "blood serum Phosphatidylcholine (18:2_0:0) amount" "urothelial cell" @@ -196026,7 +196027,6 @@ "appendix mixed carcinoid-adenocarcinoma" "goblet cell carcinoid of the appendix" "appendix goblet cell carcinoid tumor" - "rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" "Congenital disorder of glycosylation type 1e" "CDG syndrome type Ie" "Dol-P-mannosyltransferase deficiency" @@ -196034,6 +196034,7 @@ "Carbohydrate deficient glycoprotein syndrome type Ie" "CDG-Ie" "CDG1E" + "rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" "blood serum dihydrofolate reductase amount" "Retarded growth" "Growth failure" @@ -196271,6 +196272,7 @@ "microcephalus" "H125" "SPG76" + "GM17835 cell" "hypertrophic osteoarthropathy, primary, autosomal recessive 1" "primary hypertrophic osteoarthropathy caused by mutation in HPGD" "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" @@ -196278,7 +196280,6 @@ "L-2-hydroxyglutaric aciduria" "L-2-HGA" "L-2-hydroxyglutaric acidemia" - "GM17835 cell" "esophagus inflammation" "oesophagus inflammation" "esophagitis (disease)" @@ -196293,12 +196294,12 @@ "oesophagus tumour" "neoplasm of the esophagus" "esophageal tumours" + "tumor of esophagus" "esophageal tumors" "esophageal tumour" - "tumor of esophagus" "oesophagus neoplasm (disease)" - "esophageal neoplasms, benign and malignant" "neoplasm of the oesophagus" + "esophageal neoplasms, benign and malignant" "esophagus neoplasm (disease)" "esophagus neoplasm" "esophagus tumor" @@ -197094,8 +197095,8 @@ "papillary renal cell cancer" "sporadic papillary renal cell carcinoma" "papillary kidney carcinoma" - "HPRCC" "HPRCC" + "HPRCC" "chromophil carcinoma of the kidney" "chromophil renal cell carcinoma" "renal cell carcinoma, papillary, type 1" @@ -197252,15 +197253,15 @@ "carcinoma of thymus" "thymoma, malignant" "thymoma, type C (morphologic abnormality)" - "thymoma type C" "thymoma type C" + "thymoma type C" "malignant thymoma" "thymic carcinoma" "thymoma, type C" "thymic carcinoma (excluding well differentiated thymic carcinoma)" "thymus carcinoma" - "type C thymoma" "type C thymoma" + "type C thymoma" "thymic carcinoma excluding well differentiated thymic carcinoma" "Congenital disorder of glycosylation type If" "Congenital disorder of glycosylation type 1f" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 966dddb4..40c64764 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -120,11 +120,11 @@ "UMLS:C0265279" "ICD10:Q77.7" "PMID:24816252" + "UMLS:C4025572" "ICD10:Q93.5" "UMLS:C1832588" "OMIM:601224" "MeSH:C538356" - "UMLS:C4025572" "UMLS:C0740394" "SNOMEDCT_US:35885006" "DOID:0070415" @@ -369,6 +369,11 @@ "PMID:28240269" "PMID:28240269" "ICD10:Q43.1" + "UMLS:C0266579" + "MedDRA:10014923" + "MEDGEN:540011" + "Orphanet:98568" + "SCTID:20392000" "NCIT:C87497" "ICD9:729.1" "SCTID:203082005" @@ -383,11 +388,6 @@ "MESH:D005356" "UMLS:C0016053" "ICD10CM:M79.7" - "UMLS:C0266579" - "MedDRA:10014923" - "MEDGEN:540011" - "Orphanet:98568" - "SCTID:20392000" "PMID:29875488" "MedDRA:10062759" "OMIMPS:127550" @@ -1735,8 +1735,8 @@ "MONDO:0005911" "MESH:D000258" "Wikipedia:Cesium_chloride \"Wikipedia\"" - "MeSH:C028019" "PMID:698485" + "MeSH:C028019" "CiteXplore:11058836 \"PubMed citation\"" "ChemIDplus:7647-17-8 \"CAS Registry Number\"" "Reaxys:3534981 \"Reaxys Registry Number\"" @@ -1885,10 +1885,10 @@ "NCIT:C4778" "ICD9:223.0" "PMID:30188897" - "ICD10:G60.0" "Orphanet:85330" "MEDGEN:930605" "UMLS:C4304936" + "ICD10:G60.0" "ICD10:E83.5" "UMLS:C2931427" "OMIM:145981" @@ -2122,11 +2122,6 @@ "OMIM:608837" "ICD10:Q82.1" "OMIM:610651" - "DOID:0080959" - "OMIM:618920" - "UMLS:C5394505" - "MEDGEN:1712001" - "PMID:37794183" "ICD9:377.01" "SCTID:73221001" "SCTID:423341008" @@ -2144,6 +2139,11 @@ "SNOMEDCT:73221001" "MONDO:0006879" "UMLS:C0030353" + "DOID:0080959" + "OMIM:618920" + "UMLS:C5394505" + "MEDGEN:1712001" + "PMID:37794183" "Wikipedia:Lipid_catabolism" "NCIt:C26989" "MedDRA:10002544" @@ -2360,10 +2360,10 @@ "OMIM:619690" "MEDGEN:1794266" "UMLS:C5562056" - "PMID:37794183" - "PMID:29875488" "OMIM:615873" "ICD10:Q87.0" + "PMID:37794183" + "PMID:29875488" "OMIM:617920" "Orphanet:284385" "GARD:21119" @@ -3223,7 +3223,6 @@ "OMIM:301052" "DOID:0080839" "PMID:29875488" - "PMID:37794183" "MESH:C537505" "OMIM:262650" "Orphanet:629" @@ -3231,6 +3230,7 @@ "MEDGEN:340412" "icd11.foundation:1665498704" "UMLS:C1849779" + "PMID:37794183" "SCTID:239088003" "GARD:8550" "MESH:C535374" @@ -3425,8 +3425,6 @@ "MEDGEN:66374" "UMLS:C0221286" "GARD:21638" - "NCIt:C20875" - "ICD10:Z47" "BTO:0002416" "RRID:CVCL_1600" "CLO:0008127" @@ -3436,6 +3434,8 @@ "BIRNLEX:950" "EFO:0002471" "FMA:271593" + "NCIt:C20875" + "ICD10:Z47" "SCTID:763669001" "MESH:C566247" "Orphanet:1182" @@ -3567,8 +3567,6 @@ "SNOMEDCT:9861002" "MeSH:D013296" "NCIt:C76384" - "NCIt:C29885" - "GO:0042632" "UMLS:C1832594" "Orphanet:2899" "OMIM:601216" @@ -3576,6 +3574,8 @@ "SCTID:716195006" "GARD:5478" "MEDGEN:318659" + "NCIt:C29885" + "GO:0042632" "KEGG_REACTION:R04559" "Reactome:R-HSA-73828" "RHEA:23920" @@ -3814,7 +3814,6 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" - "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3832,6 +3831,7 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" + "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -3894,21 +3894,6 @@ "OMIM:613887" "OMIM:110800" "OMIM:600881" - "MESH:C537079" - "GARD:824" - "icd11.foundation:2021339495" - "NCIT:C176823" - "UMLS:C2931418" - "DOID:5812" - "SCTID:71904008" - "MEDGEN:444051" - "NANDO:1200329" - "OMIMPS:209920" - "NCIT:C3895" - "NANDO:2200702" - "MESH:D016511" - "Orphanet:572" - "OMIMPS:212093" "MONDO:0019100" "SCTID:25044007" "MeSH:D009471" @@ -3927,6 +3912,21 @@ "NORD:1505" "Orphanet:71211" "GARD:6267" + "MESH:C537079" + "GARD:824" + "icd11.foundation:2021339495" + "NCIT:C176823" + "UMLS:C2931418" + "DOID:5812" + "SCTID:71904008" + "MEDGEN:444051" + "NANDO:1200329" + "OMIMPS:209920" + "NCIT:C3895" + "NANDO:2200702" + "MESH:D016511" + "Orphanet:572" + "OMIMPS:212093" "PMID:37794183" "MA:0001173" "MESH:D013979" @@ -4076,8 +4076,6 @@ "PMID:29875488" "PMID:28922980" "PMID:23823483" - "UMLS:C2750654" - "UMLS:C4021883" "MeSH:D007967" "MESH:D007967" "SCTID:67795000" @@ -4088,6 +4086,8 @@ "MEDGEN:44132" "MONDO:0006880" "SNOMEDCT:67795000" + "UMLS:C2750654" + "UMLS:C4021883" "PMID:37794183" "OMIM:618922" "UMLS:C5394517" @@ -4790,7 +4790,6 @@ "PDBeChem:CSU" "PMID:23430915" "PMID:37164013" - "PMID:28878392" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4805,6 +4804,7 @@ "MEDGEN:6461" "ICD10CM:Q77.3" "JAX:004460" + "PMID:28878392" "MEDGEN:482413" "UMLS:C3280783" "OMIM:614431" @@ -4939,13 +4939,12 @@ "SCTID:2403008" "ICD9:304.60" "DOID:9973" - "PMID:28240269" + "CLO:0007091" + "RRID:CVCL_2092" "DOID:0081222" "OMIM:617432" "UMLS:C4479476" "MEDGEN:1373351" - "CLO:0007091" - "RRID:CVCL_2092" "UMLS:C1846564" "SCTID:715776003" "OMIM:607259" @@ -4961,6 +4960,7 @@ "CALOHA:TS-0657" "SCTID:310211009" "BTO:0000912" + "PMID:28240269" "Orphanet:96112" "GARD:19323" "SCTID:764997000" @@ -5320,17 +5320,17 @@ "OMIM:612926" "OMIM:300615" "ICD10:E70.8" - "OMIM:212350" - "OMIM:615418" - "UMLS:C1859317" - "ICD10:Q87.8" - "MeSH:C538280" "MEDGEN:413053" "OMIM:146550" "MESH:C567718" "UMLS:C2750815" "DOID:0110701" "GARD:15078" + "OMIM:212350" + "OMIM:615418" + "UMLS:C1859317" + "ICD10:Q87.8" + "MeSH:C538280" "PMID:24816252" "PMID:37253714" "PMID:29875488" @@ -5339,9 +5339,9 @@ "MedDRA:10056268" "NCIt:C6996" "MeSH:D062788" + "PMID:35347128" "NIF_Subcellular:sao585356902" "Wikipedia:Lysosome" - "PMID:35347128" "MeSH:D037801" "PMID:29875488" "UMLS:C1334647" @@ -5782,8 +5782,8 @@ "NCIT:C32138" "EFO:0003618" "SCTID:317373001" - "ZFA:0001066" "Wikipedia:Vertebral_arch" + "ZFA:0001066" "AAO:0000725" "TAO:0001066" "UMLS:C0223076" @@ -5918,11 +5918,11 @@ "UMLS:C0153998" "SCTID:92021007" "NCIT:C3608" - "PMID:36168886" "MEDGEN:1740270" "OMIM:618969" "UMLS:C5436501" "DOID:0112005" + "PMID:36168886" "PMID:34128465" "SCTID:237963003" "icd11.foundation:1462194012" @@ -6093,6 +6093,8 @@ "BTO:0002252" "NCIt:C12454" "MAT:0000348" + "OMIM:133000" + "ICD10:L59.8" "GAID:1285" "EFO:0001386" "SCTID:362082005" @@ -6102,8 +6104,6 @@ "Wikipedia:Palatine_uvula" "FMA:55022" "BTO:0002204" - "OMIM:133000" - "ICD10:L59.8" "UMLS:C4014803" "OMIM:615954" "MONDO:0014416" @@ -6299,10 +6299,10 @@ "ICD10:Q99.8" "OMIM:300869" "PMID:32602732" + "PMID:23823483" "PMID:23823483" "FBbt:00005508" "VFB:FBbt_00005508" - "PMID:23823483" "NCIT:C12664" "MESH:D034841" "GAID:17" @@ -7197,6 +7197,12 @@ "PMID:29875488" "PMID:37253714" "PMID:20634892" + "GARD:18015" + "UMLS:C4693824" + "OMIM:617982" + "MEDGEN:1647785" + "Orphanet:580940" + "MO:527" "EFO:0007483" "NCIT:C3794" "MONDO:0006055" @@ -7208,12 +7214,6 @@ "EFO:1000052" "ICDO:8590/1" "UMLS:C0206724" - "GARD:18015" - "UMLS:C4693824" - "OMIM:617982" - "MEDGEN:1647785" - "Orphanet:580940" - "MO:527" "MEDGEN:272752" "UMLS:C1334151" "DOID:6948" @@ -7395,6 +7395,7 @@ "UMLS:C1185749" "TAO:0001356" "PMID:29875488" + "PMID:36168886" "PMID:34610981" "NORD:2038" "GARD:5677" @@ -7411,7 +7412,7 @@ "ICD9:239.5" "SCTID:123844007" "MESH:D016889" - "PMID:36168886" + "PMID:37794183" "icd11.foundation:1144812971" "SCTID:397016004" "NCIT:C9235" @@ -7422,7 +7423,6 @@ "ONCOTREE:SM" "DOID:349" "MedDRA:10042949" - "PMID:37794183" "MEDGEN:98153" "NANDO:2200990" "UMLS:C0432306" @@ -7624,8 +7624,8 @@ "NANDO:1200513" "UMLS:C1857093" "PMID:29875488" - "MEDGEN:308948" "GARD:20492" + "MEDGEN:308948" "ICD10CM:C53.0" "Orphanet:213792" "DOID:4111" @@ -7740,8 +7740,8 @@ "PMID:28240269" "BTO:0000671" "UMLS:C0022646" - "galen:Kidney" "MIAA:0000119" + "galen:Kidney" "XAO:0003267" "MESH:D007668" "CALOHA:TS-0510" @@ -7982,6 +7982,7 @@ "OMIM:251220" "UMLS:C0796061" "ICD10:Q87.8" + "PMID:29875488" "SNOMEDCT_US:247177004" "UMLS:C0521683" "Orphanet:306658" @@ -7991,7 +7992,6 @@ "DOID:0080170" "GARD:10878" "UMLS:C1864861" - "PMID:29875488" "UMLS:CN226645" "Orphanet:117573" "PMID:37794183" @@ -8089,6 +8089,12 @@ "OMIM:307300" "GTR:AN0098649" "SCTID:122811000119101" + "UMLS:C1709666" + "UMLS:C2200138" + "NCIT:C45605" + "MONDO:0006387" + "EFO:1000495" + "MEDGEN:1789549" "MEDGEN:1773574" "OMIM:618970" "UMLS:C5436505" @@ -8099,12 +8105,6 @@ "MEDGEN:657805" "UMLS:C0574090" "SCTID:297238008" - "UMLS:C1709666" - "UMLS:C2200138" - "NCIT:C45605" - "MONDO:0006387" - "EFO:1000495" - "MEDGEN:1789549" "UMLS:C1332833" "NCIT:C6488" "MEDGEN:232021" @@ -8187,13 +8187,13 @@ "UMLS:C4304745" "MEDGEN:930414" "NIF_Subcellular:sao1784069613" + "NCIt:C9163" "FMA:55070" "NCIT:C73468" "MA:0000752" "Wikipedia:Waldeyer's_ring" "UMLS:C0459892" "SCTID:56411004" - "NCIt:C9163" "NCIt:C99107" "UMLS:C0517555" "UMLS:C0042487" @@ -8259,12 +8259,11 @@ "UMLS:C4518783" "Orphanet:397941" "SCTID:733450008" + "PMID:23823483" "GO:0008150" "MeSH:D055705" - "PMID:23823483" "NCIt:C50474" "MedDRA:10006101" - "ICD10:Q93.5" "UMLS:C3280240" "OMIMPS:614231" "MEDGEN:481870" @@ -8272,10 +8271,11 @@ "OMIM:228520" "UMLS:C3278138" "MEDGEN:479768" - "SNOMEDCT:109409003" + "ICD10:Q93.5" "CLO:0006950" "RRID:CVCL_1306" "BTO:0005846" + "SNOMEDCT:109409003" "PMID:35347128" "OMIM:616882" "OMIM:615224" @@ -8539,12 +8539,12 @@ "OMIM:618620" "UMLS:C5231430" "DOID:0080945" + "PMID:24816252" "http://genome.cse.ucsc.edu/cgi-bin/hgEncodeVocab?ra=encode%2Fcv.ra&term=%22iPS_CWRU1%22" "GARD:16478" "OMIM:619188" "UMLS:C5543067" "MEDGEN:1784554" - "PMID:24816252" "OMIM:610992" "ICD10:E72.8" "PMID:30944420" @@ -8684,6 +8684,7 @@ "PMID:28240269" "PMID:34154395" "PMID:29875488" + "PMID:29875488" "OMIM:103285" "SCTID:720464003" "DOID:0050601" @@ -8693,7 +8694,6 @@ "Orphanet:978" "UMLS:C1863204" "MEDGEN:400232" - "PMID:29875488" "MONDO:0006270" "UMLS:C0334381" "MEDGEN:79007" @@ -8774,6 +8774,7 @@ "ICD10:D75" "DOID:74" "PMID:24582499" + "ZFA:0000905" "SNOMEDCT:12026006" "MeSH:D013614" "Wikipedia:Paroxysmal_tachycardia" @@ -8781,7 +8782,6 @@ "ICD10:I47" "UMLS:C0039236" "MedDRA:10034047" - "ZFA:0000905" "MeSH:D047428" "SNOMEDCT:426265004" "SNOMEDCT:427510007" @@ -8863,13 +8863,13 @@ "MESH:D059268" "ICD9:627.3" "RRID:CVCL_1865" + "PMID:29875488" "MEDGEN:233275" "DOID:5263" "NCIT:C5234" "MONDO:0003355" "UMLS:C1335163" "EFO:0006718" - "PMID:29875488" "CLO:0050181" "RRID:CVCL_0227" "CLO:0002636" @@ -9388,8 +9388,8 @@ "MESH:D015439" "UMLS:C0575897" "SNOMEDCT_US:299130003" - "MeSH:D013952" "NCIT:C126349" + "MeSH:D013952" "MESH:D014314" "NCIT:C3421" "MEDGEN:21702" @@ -9509,11 +9509,11 @@ "ICD10:G71.3" "UMLS:C0162671" "PMID:29875488" - "PMID:35347128" "OMIMPS:206100" "MESH:C567144" "UMLS:C2673913" "MEDGEN:388759" + "PMID:35347128" "UMLS:C1851526" "GARD:9707" "OMIM:132700" @@ -9740,8 +9740,8 @@ "UMLS:C0342801" "SCTID:238012003" "PMID:32641083" - "PMID:37794183" "OMIM:224800" + "PMID:37794183" "UMLS:C0020672" "SNOMEDCT_US:386689009" "MEDGEN:149279" @@ -10120,6 +10120,7 @@ "SNOMEDCT_US:74227009" "UMLS:C0349391" "ICD10:D84.8" + "PMID:35347128" "PMID:31711042" "PMID:31551469" "Orphanet:488197" @@ -10127,7 +10128,6 @@ "UMLS:C4225493" "GARD:17888" "MEDGEN:903733" - "PMID:35347128" "MeSH:Q000472" "NCIT:C96477" "EFO:1000504" @@ -11105,6 +11105,11 @@ "NANDO:1200942" "UMLS:C1568247" "ICD10:K76.8" + "UMLS:C1862840" + "OMIM:614149" + "OMIM:107000" + "MeSH:C536378" + "ICD10:Q84.3" "RRID:CVCL_Z232" "NCIt:C111071" "CLO:0008922" @@ -11125,11 +11130,6 @@ "NCIT:C84542" "MedDRA:10013976" "MESH:D000377" - "UMLS:C1862840" - "OMIM:614149" - "OMIM:107000" - "MeSH:C536378" - "ICD10:Q84.3" "PMID:34503513" "PMID:23443545" "UMLS:C0228411" @@ -11174,6 +11174,8 @@ "NCIt:C80385" "SNOMEDCT:370992007" "SNOMEDCT_US:370992007" + "OMIM:300004" + "ICD10:Q87.8" "UMLS:C0729346" "NCIt:C35313" "MedDRA:10023259" @@ -11206,10 +11208,8 @@ "UMLS:C0930553" "FMA:59788" "PMID:35347128" - "PMID:28240269" - "OMIM:300004" - "ICD10:Q87.8" "PMID:35347128" + "PMID:28240269" "UMLS:C3489396" "UMLS:C0271623" "SNOMEDCT_US:33927004" @@ -11343,9 +11343,9 @@ "GARD:646" "MESH:C538241" "OMIM:614253" - "PMID:23315938" "OMIM:112410" "ICD10:I10" + "PMID:23315938" "PMID:35347128" "Orphanet:309279" "GARD:10670" @@ -11769,6 +11769,14 @@ "MEDGEN:6050" "MONDO:0005126" "SNOMEDCT:70143003" + "MeSH:D017243" + "ICD10:E88.42" + "DOID:310" + "ICD10:G71.3" + "NCIt:C84889" + "UMLS:C0162672" + "MedDRA:10069825" + "OMIM:545000" "MEDGEN:237042" "NCIT:C6336" "GARD:20473" @@ -11783,14 +11791,6 @@ "MeSH:D003286" "MedDRA:10061785" "SNOMEDCT:57048009" - "MeSH:D017243" - "ICD10:E88.42" - "DOID:310" - "ICD10:G71.3" - "NCIt:C84889" - "UMLS:C0162672" - "MedDRA:10069825" - "OMIM:545000" "DOID:6244" "UMLS:C0879606" "MEDGEN:209307" @@ -11942,8 +11942,8 @@ "MESH:D010525" "BIRNLEX:1615" "NCIT:C12768" - "XAO:0003047" "NLX:147826" + "XAO:0003047" "FMA:65132" "FMA:65239" "SCTID:256864008" @@ -12269,10 +12269,6 @@ "MEDGEN:767490" "KEGG COMPOUND:C00322" "HMDB:0000225" - "OMIM:618850" - "MEDGEN:1719306" - "UMLS:C5394277" - "DOID:0060950" "MEDGEN:87660" "UMLS:C0376175" "SCTID:193093009" @@ -12286,6 +12282,10 @@ "MedDRA:10016060" "ICD10CM:G51.0" "MONDO:0005665" + "OMIM:618850" + "MEDGEN:1719306" + "UMLS:C5394277" + "DOID:0060950" "SNOMEDCT_US:70992005" "UMLS:C0152252" "PMID:29875488" @@ -12330,7 +12330,6 @@ "NCIT:C2973" "EFO:1001048" "UMLS:C0010635" - "OMIM:309580" "GARD:17278" "Orphanet:276399" "SCTID:267369002" @@ -12340,6 +12339,7 @@ "UMLS:C0302859" "OMIM:138800" "PMID:37794183" + "OMIM:309580" "FBbt:00001690" "PMID:28240269" "MONDO:0005814" @@ -12860,8 +12860,8 @@ "AAO:0000146" "MA:0000255" "GAID:869" - "EMAPA:17601" "EV:0100359" + "EMAPA:17601" "VHOG:0001145" "FMA:9705" "Wikipedia:Eustachian_tube" @@ -12927,9 +12927,9 @@ "DOID:0081364" "UMLS:C4310693" "MEDGEN:934660" + "PMID:35347128" "UMLS:C1384606" "SNOMEDCT_US:71315007" - "PMID:35347128" "GARD:16556" "MEDGEN:320374" "icd11.foundation:1206883656" @@ -13413,6 +13413,10 @@ "MEDGEN:462617" "OMIM:613876" "PMID:26513670" + "Wikipedia:Nucleolus" + "NIF_Subcellular:sao1820400233" + "NCIt:C13196" + "SNOMEDCT:15982001" "icd11.foundation:661397711" "MESH:C536180" "OMIM:601375" @@ -13420,10 +13424,6 @@ "MEDGEN:371322" "UMLS:C1832411" "Orphanet:1808" - "Wikipedia:Nucleolus" - "NIF_Subcellular:sao1820400233" - "NCIt:C13196" - "SNOMEDCT:15982001" "MeSH:D002275" "SNOMEDCT:36222008" "MedDRA:10069010" @@ -13812,8 +13812,8 @@ "SCTID:40055000" "ICD9:473.9" "UMLS:C0149516" - "MEDGEN:101751" "MONDO:0006031" + "MEDGEN:101751" "NCIT:C35151" "icd11.foundation:1836987572" "ICD9:473.8" @@ -13848,6 +13848,7 @@ "NCIt:C86298" "UMLS:C0520878" "SNOMEDCT_US:49578007" + "SCTID:280913005" "EMAPA:37185" "NCIT:C53063" "MA:0002213" @@ -13857,7 +13858,6 @@ "GAID:524" "FMA:51799" "MESH:D012169" - "SCTID:280913005" "MONDO:0017944" "MONDO:0019467" "UMLS:C1301363" @@ -14159,7 +14159,6 @@ "UMLS:C0023348" "MONDO:0005127" "MESH:D015440" - "PMID:35995766" "FBbt:00005551" "PMID:35050183" "GARD:4069" @@ -14170,6 +14169,7 @@ "Orphanet:2920" "SCTID:721017000" "UMLS:C1850320" + "PMID:35995766" "NCIt:C73425" "Wikipedia:Sleep" "MeSH:D012890" @@ -14325,18 +14325,6 @@ "NCIT:C6311" "MEDGEN:233163" "DOID:4114" - "PMID:35995766" - "SCTID:27382006" - "MEDGEN:1419" - "PMID:24350019" - "MedDRA:10056506" - "DOID:9905" - "MONDO:0006551" - "ICD10CM:L65.2" - "MESH:D000507" - "UMLS:C0002173" - "ICD9:704.09" - "NCIT:C82859" "OMIM:600496" "OMIM:612225" "OMIM:616511" @@ -14351,6 +14339,18 @@ "OMIM:125851" "ICD10:E11.8" "OMIM:606392" + "PMID:35995766" + "SCTID:27382006" + "MEDGEN:1419" + "PMID:24350019" + "MedDRA:10056506" + "DOID:9905" + "MONDO:0006551" + "ICD10CM:L65.2" + "MESH:D000507" + "UMLS:C0002173" + "ICD9:704.09" + "NCIT:C82859" "SCTID:254922006" "MESH:C537750" "NCIT:C4526" @@ -14505,14 +14505,6 @@ "DOID:0112232" "UMLS:C1969029" "PMID:20045101" - "SCTID:361203007" - "icd11.foundation:1373430210" - "UMLS:C0342793" - "Orphanet:943" - "MESH:C535702" - "MEDGEN:91001" - "OMIM:248360" - "GARD:3371" "EMAPA:35493" "FMA:30319" "VHOG:0001272" @@ -14529,6 +14521,14 @@ "SCTID:182358004" "UMLS:C0023685" "ZFA:0001675" + "SCTID:361203007" + "icd11.foundation:1373430210" + "UMLS:C0342793" + "Orphanet:943" + "MESH:C535702" + "MEDGEN:91001" + "OMIM:248360" + "GARD:3371" "OMIM:620356" "UMLS:C5830473" "MEDGEN:1841109" @@ -14580,7 +14580,6 @@ "UMLS:C3150127" "PMID:29875488" "PMID:29875488" - "PMID:36168886" "UMLS:C1291245" "Orphanet:168588" "MEDGEN:266223" @@ -14591,6 +14590,7 @@ "MESH:C536447" "OMIMPS:604931" "Orphanet:247198" + "PMID:36168886" "PMID:32641083" "Orphanet:307061" "Orphanet:307064" @@ -14669,28 +14669,29 @@ "MEDGEN:337979" "OMIM:259690" "MESH:C537706" + "MeSH:D018298" + "SNOMEDCT:39892006" + "DOID:163" "PMID:20518020" "RRID:CVCL_6C44" "Orphanet:369881" "MEDGEN:1666351" "GARD:21581" "UMLS:C4749458" - "MeSH:D018298" - "SNOMEDCT:39892006" - "DOID:163" "NCIt:C6261" "MedDRA:10073273" "Orphanet:314822" "NCIt:C25989" "OMIM:613672" "ICD10:G11.4" + "OMIM:616335" + "OMIM:251270" + "ICD10:Q87.8" + "PMID:37164013" "SCTID:126909004" "UMLS:C1263777" "NCIT:C6300" "MEDGEN:226810" - "OMIM:616335" - "OMIM:251270" - "ICD10:Q87.8" "PMID:19704561" "BPDB:2440" "KEGG:C08491" @@ -14707,7 +14708,6 @@ "MeSH:C011006" "KNApSAcK:C00000218" "Chemspider:4444606" - "PMID:37164013" "ICD9:305.60" "UMLS:C0009171" "DOID:809" @@ -14823,10 +14823,10 @@ "SNOMEDCT:14332009" "icd11.foundation:841462147" "Orphanet:295175" + "PMID:37794183" "MeSH:C537457" "OMIM:309580" "UMLS:C0796003" - "PMID:37794183" "ICD10:Q79.6" "OMIM:130060" "PMID:28240269" @@ -15034,6 +15034,7 @@ "NIFSTD:birnlex_399" "NCIt:C25796" "PMID:29875488" + "PMID:27560520" "MeSH:D050218" "DOID:0112105" "UMLS:C3806722" @@ -15048,7 +15049,6 @@ "UMLS:C1299237" "DOID:0040096" "Reaxys:8378760" - "PMID:27560520" "NCIt:C15599" "SNOMEDCT:266717002" "MeSH:D020249" @@ -15744,13 +15744,13 @@ "GARD:20884" "OMIM:312150" "ICD10:Q79.8" - "OMIM:112450" - "ICD10:Q73.8" "PMID:37164013" "NCIT:C6178" "DOID:13109" "UMLS:C1332560" "MEDGEN:272371" + "OMIM:112450" + "ICD10:Q73.8" "MEDGEN:83350" "SCTID:237959005" "UMLS:C0342739" @@ -15996,6 +15996,11 @@ "icd11.foundation:1200845933" "FMA:84789" "ZFA:0009020" + "ICD10:K68.12" + "MeSH:D016659" + "MedDRA:10056517" + "ICD9:567.31" + "SNOMEDCT:266463007" "MESH:C535653" "MONDO:0007047" "Orphanet:38" @@ -16004,11 +16009,6 @@ "DOID:0060362" "GARD:125" "OMIM:101850" - "ICD10:K68.12" - "MeSH:D016659" - "MedDRA:10056517" - "ICD9:567.31" - "SNOMEDCT:266463007" "PMID:29875488" "KEGG:C05584" "BAMS:OL" @@ -16021,8 +16021,8 @@ "MAT:0000507" "SCTID:180923002" "UMLS:C0028785" - "BTO:0000293" "Wikipedia:Occipital_lobe" + "BTO:0000293" "neuronames:140" "NCIT:C12355" "EV:0100170" @@ -16177,8 +16177,6 @@ "CLO:0009524" "RRID:CVCL_0059" " CLO:0050515" - "MESH:D012171" - "FMA:76552" "ZFA:0001434" "EHDAA2:0001256" "EHDAA:2871" @@ -16187,6 +16185,8 @@ "VHOG:0000300" "EFO:0003688" "EMAPA:16165" + "MESH:D012171" + "FMA:76552" "ZFA:0009330" "OMIMPS:619539" "MEDGEN:1790414" @@ -16691,8 +16691,8 @@ "SNOMEDCT_US:126713003" "NCIT:C3262" "UMLS:C0024121" - "SNOMEDCT:413622000" "PMID:29875488" + "SNOMEDCT:413622000" "NCIt:C79614" "UMLS:C4054550" "NCIt:C123172" @@ -16772,6 +16772,7 @@ "ZFA:0000146" "EFO:0003431" "TAO:0000146" + "SNOMEDCT:449509004" "OMIMPS:300633" "DOID:10892" "MESH:D007021" @@ -16789,7 +16790,6 @@ "MeSH:D007021" "ICD10:Q54" "HP:0000047" - "SNOMEDCT:449509004" "MEDGEN:411249" "Orphanet:141152" "OMIM:612776" @@ -16827,9 +16827,9 @@ "OMIM:618744" "Orphanet:156005" "ICD10:Q69.2" + "PMID:36168886" "PMID:35888728" "PMID:28369058" - "PMID:36168886" "PMID:38565889" "PMID:37794183" "Orphanet:209932" @@ -16943,8 +16943,8 @@ "SNOMEDCT:8455004" "FMA:59155" "MESH:D001050" - "SCTID:399916008" "EMAPA:37426" + "SCTID:399916008" "Wikipedia:Apocrine_sweat_gland" "BTO:0001458" "UMLS:C0930083" @@ -17260,8 +17260,8 @@ "galen:Ureter" "EFO:0000930" "EHDAA2:0002139" - "UMLS:C0041951" "MESH:D014513" + "UMLS:C0041951" "XAO:0000144" "EMAPA:17950" "Wikipedia:Ureter" @@ -17408,13 +17408,13 @@ "UMLS:C0878773" "NANDO:2200838" "NANDO:1200951" + "PMID:36006120" "MEDGEN:481471" "MESH:C566729" "UMLS:C3279841" "GARD:17236" "OMIM:614111" "Orphanet:255138" - "PMID:36006120" "PMID:30287865" "PMID:28240269" "MEDGEN:697574" @@ -17533,6 +17533,13 @@ "OMIT:0027719" "UMLS:C0275524" "Wikipedia:Coinfection" + "MESH:D000080364" + "icd11.foundation:1197219411" + "MESH:C537374" + "GARD:9824" + "UMLS:C1533060" + "MEDGEN:288551" + "SCTID:414783007" "PMID:24816252" "UMLS:C4280579" "UMLS:C4280580" @@ -17574,11 +17581,11 @@ "SCTID:715426004" "UMLS:C1844671" "UMLS:C1865916" + "PMID:29875488" "MEDGEN:235326" "DOID:4892" "NCIT:C6848" "UMLS:C1334758" - "PMID:29875488" "PMID:29875488" "MeSH:D013316" "NIFSTD:birnlex_2525" @@ -17618,6 +17625,10 @@ "MA:0002442" "MeSH:D010937" "SNOMEDCT:67036009" + "DOID:0060938" + "MEDGEN:1794211" + "OMIM:619565" + "UMLS:C5562001" "NCIT:C27038" "MedDRA:10048643" "ORDO:Orphanet_168956" @@ -17636,10 +17647,6 @@ "MONDO:0015691" "DOID:999" "UMLS:C1540912" - "DOID:0060938" - "MEDGEN:1794211" - "OMIM:619565" - "UMLS:C5562001" "Orphanet:79154" "MEDGEN:395350" "DOID:0111453" @@ -17694,10 +17701,10 @@ "icd11.foundation:46666832" "UMLS:C1846044" "SCTID:763311001" + "PMID:35347128" "SNOMEDCT:54000004" "NCIt:C74488" "FBbt:00005619" - "PMID:35347128" "ICD10:E72.8" "OMIM:300438" "MONDO:0005995" @@ -17754,6 +17761,7 @@ "ICD10:Q78.4" "OMIM:614569" "NCIT:C3213" + "PMID:21962510" "GARD:498" "DOID:5768" "SCTID:35520007" @@ -17770,7 +17778,6 @@ "OMIM:618822" "SNOMEDCT:83327008" "MeSH:D002107" - "PMID:21962510" "HP:0006528" "MedDRA:10083002" "SNOMEDCT:413839001" @@ -17808,6 +17815,8 @@ "Orphanet:641361" "MEDGEN:1794215" "FBbt:00005670" + "Wikipedia:Diastasis_symphysis_pubis" + "MeSH:D046548" "Orphanet:289365" "SCTID:763716008" "MEDGEN:1637583" @@ -17819,8 +17828,6 @@ "MEDGEN:235529" "NCIT:C27549" "UMLS:C1335666" - "Wikipedia:Diastasis_symphysis_pubis" - "MeSH:D046548" "PMID:29875488" "SCTID:254959007" "MEDGEN:391700" @@ -17869,6 +17876,7 @@ "NCIt:C74718" "SNOMEDCT:117173006" "MedDRA:10044089" + "PMID:35050183" "NCIT:C4777" "MEDGEN:181751" "DOID:0060087" @@ -17881,7 +17889,6 @@ "GARD:4076" "OMIM:258315" "Orphanet:93329" - "PMID:35050183" "UMLS:C1867446" "UMLS:C1837260" "PMID:35995766" @@ -17927,7 +17934,6 @@ "OMIM:619573" "UMLS:C5562070" "MEDGEN:1794280" - "PMID:29875488" "SCTID:58795000" "NCIT:C84675" "UMLS:C0751336" @@ -17938,6 +17944,7 @@ "DOID:11720" "MEDGEN:155541" "Orphanet:599" + "PMID:29875488" "PMID:35347128" "DOID:0050888" "UMLS:C5680525" @@ -18476,11 +18483,11 @@ "NCIt:C26976" "OMIM:238320" "ICD10:Q56.1" + "PMID:29875488" "PMID:33430342" "SNOMEDCT_US:87065009" "MEDDRA:10028698" "UMLS:C0221260" - "PMID:29875488" "UMLS:C1857068" "OMIM:224800" "MESH:C565606" @@ -18980,12 +18987,12 @@ "UMLS:C4280665" "SNOMEDCT_US:28740008" "UMLS:C0265535" - "OMIM:238970" - "UMLS:C0268540" - "ICD10:E72.4" "OMIM:617425" "OMIM:309620" "ICD10:Q87.5" + "OMIM:238970" + "UMLS:C0268540" + "ICD10:E72.4" "OMIM:613364" "ICD10:G11.4" "MEDGEN:1842921" @@ -19325,14 +19332,6 @@ "SNOMEDCT:309842008" "UMLS:C2267233" "SNOMEDCT_US:205294008" - "GARD:16674" - "Orphanet:66637" - "OMIM:608022" - "icd11.foundation:508093071" - "MEDGEN:374993" - "MESH:C564305" - "SCTID:721094006" - "UMLS:C1842691" "HP:0011779" "ICD10:C73" "MESH:D065646" @@ -19349,6 +19348,14 @@ "SCTID:255031003" "GARD:0000664" "Orphanet:142" + "GARD:16674" + "Orphanet:66637" + "OMIM:608022" + "icd11.foundation:508093071" + "MEDGEN:374993" + "MESH:C564305" + "SCTID:721094006" + "UMLS:C1842691" "SNOMEDCT_US:394680009" "UMLS:C1273957" "PMID:35347128" @@ -19468,7 +19475,6 @@ "Orphanet:308638" "NANDO:2201160" "GARD:17395" - "PMID:28240269" "HMDB:HMDB0000259" "KNApSAcK:C00001429" "KEGG COMPOUND:C00780" @@ -19489,6 +19495,7 @@ "NCIt:C828" "MetaCyc:SEROTONIN" "PMID:24136337" + "PMID:28240269" "UMLS:C0027430" "SNOMEDCT_US:52756005" "Orphanet:157808" @@ -19850,14 +19857,14 @@ "MONDO:0000266" "MeSH:D055732" "PMID:29875488" - "OMIM:271250" - "ICD10:G11.1" "GARD:9350" "MEDGEN:75829" "NCIT:C3997" "UMLS:C0278510" "NANDO:2200090" "DOID:3869" + "OMIM:271250" + "ICD10:G11.1" "PMID:34503513" "PMID:25326703" "RRID:CVCL_2195" @@ -20712,11 +20719,11 @@ "NCIT:C6163" "UMLS:C1332563" "DOID:6481" - "ICD10:I71.0" - "OMIM:607086" "OMIM:613028" "UMLS:C2751642" "MEDGEN:414431" + "ICD10:I71.0" + "OMIM:607086" "PMID:37164013" "OMIM:619177" "DOID:0112273" @@ -21234,6 +21241,7 @@ "SNOMEDCT:8033002" "NCIt:C72366" "DOID:0050702" + "GAZ:00002802" "NANDO:2200036" "icd11.foundation:933337476" "EFO:0007336" @@ -21251,7 +21259,6 @@ "MEDGEN:266041" "icd11.foundation:588958190" "Orphanet:86897" - "GAZ:00002802" "PMID:28024297" "DOID:1876" "UMLS:C0237873" @@ -21622,6 +21629,8 @@ "UMLS:C3809454" "GARD:18457" "MEDGEN:815784" + "OMIM:607317" + "ICD10:G11.1" "EMAPA:17532" "EHDAA:5433" "NIFSTD:birnlex_1710" @@ -21673,8 +21682,6 @@ "ChemIDplus:103-90-2" "PMID:25128677" "PMID:22114686" - "OMIM:607317" - "ICD10:G11.1" "PMID:29875488" "EFO:1000596" "NCIT:C8461" @@ -21737,13 +21744,13 @@ "NCIt:C4215" "PMID:37794183" "UMLS:C1112256" - "SNOMEDCT:104733005" "NCIt:C27956" "NIFSTD:birnlex_695" "MIAA:0000402" "NIFSTD:birnlex_438" "MeSH:D007223" "SNOMEDCT:133931009" + "SNOMEDCT:104733005" "PMID:23823483" "PMID:29875488" "MedDRA:10040641" @@ -22076,12 +22083,12 @@ "MeSH:C536739" "UMLS:C0432217" "OMIM:615009" + "UMLS:C0013447" "ICD9:388.8" "NCIT:C26757" "SCTID:25906001" "ICD9:388.9" "MEDGEN:3946" - "UMLS:C0013447" "NCIT:C130991" "NORD:1325" "GARD:16594" @@ -22114,7 +22121,8 @@ "SCTID:254820002" "GARD:0000838" "ICD10:L98.8" - "PMID:29875488" + "Orphanet:118975" + "OMIM:209900" "PMID:37794183" "PMID:37794183" "icd11.foundation:1161028858" @@ -22127,9 +22135,8 @@ "Orphanet:85195" "ICD9:756.9" "GARD:9168" - "Orphanet:118975" - "OMIM:209900" "Orphanet:177107" + "PMID:29875488" "Orphanet:397692" "PMID:35347128" "ICD9:275.49" @@ -22225,12 +22232,12 @@ "SCTID:71464000" "MEDGEN:335822" "OMIM:607864" - "PMID:28240269" "OMIM:129400" "MeSH:C535289" "UMLS:C1785148" "OMIM:106260" "ICD10:Q82.4" + "PMID:28240269" "Orphanet:222628" "GARD:20545" "UMLS:C5680891" @@ -22531,6 +22538,7 @@ "NCIT:C126336" "UMLS:C3275445" "PMID:29875488" + "PMID:33634981" "DOID:5364" "UMLS:C0009250" "MESH:D003074" @@ -22538,10 +22546,10 @@ "ICD10:R91.1" "EFO:1001133" "MONDO:0006931" - "PMID:33634981" "UMLS:C5396999" "MONDO:0006061" "MEDGEN:1709179" + "UMLS:C4025821" "PMID:15005370" "KEGG:D00371" "PMID:11200776" @@ -22616,7 +22624,6 @@ "PMID:11126990" "PMID:19888960" "PMID:22541679" - "UMLS:C4025821" "MEDGEN:355816" "UMLS:C1866853" "GARD:2342" @@ -22629,13 +22636,13 @@ "DOID:117" "NCIT:C3548" "MESH:D006338" + "PMID:29875488" "MESH:D012874" "UMLS:C0156279" "ICD9:597.81" "MEDGEN:510225" "DOID:13498" "SCTID:31273004" - "PMID:29875488" "Wikipedia:Syncytiotrophoblast" "FMA:83040" "NCIT:C33918" @@ -22769,9 +22776,9 @@ "ICD10:D56.1" "MedDRA:10043391" "DOID:12241" - "PMID:28240269" "OMIM:620728" "DOID:0060943" + "PMID:28240269" "UMLS:C4023340" "CAS:1118-68-9" "Gmelin:82215" @@ -22802,6 +22809,17 @@ "ICD9:V86" "NCIt:C16150" "ICD9:V86-V86.99" + "NCIT:C5350" + "MEDGEN:374834" + "OMIM:138000" + "GARD:16728" + "MedDRA:10018381" + "Orphanet:83454" + "UMLS:C1841984" + "SCTID:715644000" + "icd11.foundation:2095305475" + "DOID:7996" + "MESH:C536827" "UMLS:C0025285" "NLXANAT:090204" "MA:0001113" @@ -22814,21 +22832,10 @@ "EMAPA:32660" "EFO:0000867" "GAID:687" - "VHOG:0001295" "FMA:9589" "CALOHA:TS-1177" + "VHOG:0001295" "MESH:D008578" - "NCIT:C5350" - "MEDGEN:374834" - "OMIM:138000" - "GARD:16728" - "MedDRA:10018381" - "Orphanet:83454" - "UMLS:C1841984" - "SCTID:715644000" - "icd11.foundation:2095305475" - "DOID:7996" - "MESH:C536827" "ZFS:0000017" "MedDRA:10056306" "NCIm:C0085491" @@ -22906,8 +22913,6 @@ "KNApSAcK:C00007288" "MetaCyc:GLYCEROL-3P" "NCIt:C4508" - "UMLS:C0545131" - "NCIt:C98494" "OMIM:604360" "UMLS:C1858479" "DOID:0110764" @@ -22916,6 +22921,8 @@ "SCTID:715491000" "NCIT:C148317" "Orphanet:2822" + "UMLS:C0545131" + "NCIt:C98494" "NCIt:C85050" "PMID:29093273" "Orphanet:369979" @@ -23156,6 +23163,7 @@ "MEDGEN:78591" "GARD:16841" "UMLS:C0266283" + "NCIt:C5731" "UMLS:C1867801" "MEDGEN:401304" "MESH:C538278" @@ -23164,7 +23172,6 @@ "OMIM:176305" "GARD:4470" "DOID:0111544" - "NCIt:C5731" "MeSH:D003789" "CAS:732-11-6" "PPDB:521" @@ -23284,8 +23291,6 @@ "ICD9:117.9" "MEDGEN:508004" "DOID:2473" - "UMLS:C2827510" - "NCIt:C84821" "MEDGEN:1381843" "SCTID:733091002" "UMLS:C4518577" @@ -23296,15 +23301,17 @@ "MEDGEN:1846284" "SCTID:253975004" "UMLS:C5848178" + "UMLS:C2827510" + "NCIt:C84821" "NCIt:C80196" "PMID:29212897" "ICD10:Q87.8" "MedDRA:10084239" "UMLS:C0796110" "OMIM:311450" + "PMID:35668104" "PMID:28369058" "PMID:27182965" - "PMID:35668104" "MEDGEN:41610" "MESH:D004198" "UMLS:C0012655" @@ -23719,6 +23726,8 @@ "MAT:0000181" "FMA:23217" "EMAPA:18025" + "OMIM:613217" + "ICD10:P78.3" "MedDRA:10068871" "NANDO:2200864" "icd11.foundation:192087511" @@ -23733,8 +23742,6 @@ "MEDGEN:10239" "NANDO:1200495" "OMIMPS:160900" - "OMIM:613217" - "ICD10:P78.3" "PMID:35347128" "SCTID:716335003" "OMIM:185480" @@ -23850,8 +23857,8 @@ "OMIM:216411" "MEDGEN:196713" "UMLS:C0751037" - "EV:0100077" "EFO:0000840" + "EV:0100077" "BTO:0000706" "galen:LargeIntestine" "NCIT:C12379" @@ -23868,8 +23875,8 @@ "Wikipedia:Large_intestine_(anatomy)" "MESH:D007420" "MIAA:0000046" - "PMID:31467194" "PMID:37794183" + "PMID:31467194" "OMIM:613765" "UMLS:C1861065" "MEDGEN:348780" @@ -24230,8 +24237,8 @@ "Orphanet:317416" "ICD10:Q93.1" "ICD10:Q93.0" - "TAO:0005285" "UMLS:C0599297" + "TAO:0005285" "ZFA:0005285" "Wikipedia:Glomerular_basement_membrane" "EMAPA:28251" @@ -24407,12 +24414,6 @@ "RRID:CVCL_7084" "BTO:0004899" "PMID:29875488" - "ICD10:D56.4" - "OMIM:141749" - "OMIM:142335" - "OMIM:142470" - "OMIM:305435" - "OMIM:613566" "MEDGEN:409971" "OMIM:611182" "GARD:12411" @@ -24421,6 +24422,12 @@ "DOID:0070260" "UMLS:C1970021" "SCTID:717774004" + "ICD10:D56.4" + "OMIM:141749" + "OMIM:142335" + "OMIM:142470" + "OMIM:305435" + "OMIM:613566" "PMID:37794183" "OMIM:620369" "UMLS:C5830501" @@ -24470,8 +24477,8 @@ "MEDGEN:815853" "OMIM:615439" "DOID:0110025" - "PMID:35347128" "UMLS:C4021601" + "PMID:35347128" "ICDO:8244/3" "NCIT:C4139" "MEDGEN:83124" @@ -24620,9 +24627,6 @@ "MeSH:D013120" "UMLS:C0037930" "PMID:29875488" - "VFB:FBbt_00005673" - "FBbt:00005673" - "Orphanet:206653" "GARD:9363" "UMLS:C3665489" "SCTID:764791008" @@ -24631,6 +24635,9 @@ "MONDO:0016093" "MEDGEN:777110" "Orphanet:206473" + "VFB:FBbt_00005673" + "FBbt:00005673" + "Orphanet:206653" "MEDGEN:760752" "GARD:16805" "icd11.foundation:2041886796" @@ -24747,8 +24754,6 @@ "Patent:WO2011069053" "Patent:WO2011150044" "PMID:35347128" - "ICD10:G11.1" - "OMIM:615705" "UMLS:C1832708" "DOID:0081318" "MEDGEN:331348" @@ -24757,6 +24762,8 @@ "MESH:C537380" "ICD10:D58.2" "PMID:37794183" + "ICD10:G11.1" + "OMIM:615705" "PMID:37794183" "SNOMEDCT_US:253936008" "UMLS:C0431890" @@ -24989,6 +24996,7 @@ "SCTID:15566009" "MeSH:D004313" "MESH:D004313" + "PMID:37794183" "MESH:D017192" "MedDRA:10029147" "NANDO:1200742" @@ -25005,7 +25013,6 @@ "UMLS:C0162283" "SCTID:111395007" "MESH:D018500" - "PMID:37794183" "ORCiD:0000-0002-2244-7917" "TAO:0000669" "GOC:cvs" @@ -25247,13 +25254,13 @@ "MEDGEN:337257" "SNOMEDCT:114444007" "MeSH:D044082" - "ICD10:E88.1" - "OMIM:604367" "MEDGEN:162880" "Orphanet:1699" "UMLS:C0795845" "GARD:5305" "MESH:C538299" + "ICD10:E88.1" + "OMIM:604367" "ATCC:CRL-1934" "PMID: 3897439" "MEDGEN:78086" @@ -25293,18 +25300,18 @@ "MESH:D005585" "Orphanet:454836" "MONDO:0018695" - "MedDRA:10064097" "MEDGEN:42091" + "MedDRA:10064097" "SCTID:55604004" "UMLS:C1867443" "OMIM:177980" "ICD10:Q87.8" "OMIM:162350" "ICD10:E75.4" - "PMID:28240269" "CAS:53832-59-0" "LIPID_MAPS_instance:LMFA08040049" "Chemspider:21467441" + "PMID:28240269" "ICD10CM:Q93.3" "Orphanet:261884" "GARD:20808" @@ -25485,8 +25492,8 @@ "UMLS:C2931483" "MeSH:C537399" "PMID:29875488" - "PMID:23823483" "PMID:28240269" + "PMID:23823483" "NCIt:C135440" "UMLS:C0200642" "OMIM:610370" @@ -25586,7 +25593,6 @@ "PMID:33634981" "PMID:37794183" "OMIMPS:249270" - "PMID:31530798" "DOID:9279" "UMLS:C0598608" "SCTID:419503008" @@ -25595,6 +25601,7 @@ "MESH:D020138" "MEDGEN:108623" "OMIM:603174" + "PMID:31530798" "MEDGEN:474161" "UMLS:C3272528" "NCIT:C96061" @@ -25779,9 +25786,9 @@ "EMAPA:37282" "FMA:22984" "SCTID:181517009" + "PMID:29875488" "UMLS:C0454642" "SNOMEDCT_US:229736005" - "PMID:29875488" "PMID:29875488" "Orphanet:89840" "NANDO:2201379" @@ -26215,7 +26222,6 @@ "PMID:29875488" "MAT:0000483" "PMID:29875488" - "PMID:29875488" "SCTID:723821002" "UMLS:C2750784" "DOID:0110796" @@ -26226,6 +26232,7 @@ "MEDGEN:413042" "NCIt:C114257" "SNOMEDCT:703153003" + "PMID:29875488" "ICD10:Q93.5" "ICD10:Q93.4" "ICD10:Q93.3" @@ -26335,8 +26342,8 @@ "UMLS:C0393551" "UMLS:C1390474" "PMID:29875488" - "Orphanet:2338" "PMID:37794183" + "Orphanet:2338" "OMIM:614195" "MEDGEN:481729" "UMLS:C3280099" @@ -26533,6 +26540,8 @@ "DOID:11885" "MESH:D014516" "MEDGEN:102303" + "OMIM:614199" + "ICD10:N04" "icd11.foundation:1436361154" "NCIT:C84353" "MEDGEN:140795" @@ -26545,8 +26554,6 @@ "BTO:0002875" "RRID:CVCL_3871" "PMID:10702418" - "OMIM:614199" - "ICD10:N04" "UMLS:C0685409" "SNOMEDCT_US:29271008" "UMLS:C0035615" @@ -27074,6 +27081,12 @@ "UMLS:C4023338" "OMIM:234280" "ICD10:Q74.2" + "MONDO:0005939" + "MEDGEN:48410" + "DOID:1334" + "MESH:D012088" + "UMLS:C0035112" + "MeSH:D012088" "ICD9:478.1" "UMLS:C1290325" "SCTID:128272009" @@ -27082,12 +27095,6 @@ "ICD9:478.19" "ICD10:J22" "MEDGEN:712703" - "MONDO:0005939" - "MEDGEN:48410" - "DOID:1334" - "MESH:D012088" - "UMLS:C0035112" - "MeSH:D012088" "SNOMEDCT_US:17920008" "UMLS:C0155773" "EC:3.1.6.12" @@ -27098,12 +27105,6 @@ "Reactome:R-HSA-1793207" "MetaCyc:3.1.6.12-RXN" "PMID:28240269" - "Orphanet:2230" - "UMLS:C4303079" - "ICD10CM:E23.0" - "SCTID:721842008" - "MEDGEN:928748" - "GARD:324" "ICD10CM:B72" "ICD9:125.7" "MEDGEN:41653" @@ -27119,6 +27120,12 @@ "MONDO:0016472" "Orphanet:231" "MESH:D004320" + "Orphanet:2230" + "UMLS:C4303079" + "ICD10CM:E23.0" + "SCTID:721842008" + "MEDGEN:928748" + "GARD:324" "OMIM:600331" "Orphanet:2825" "MESH:C537174" @@ -28287,7 +28294,6 @@ "MEDGEN:56320" "ICD9:195.1" "PMID:31020675" - "OMIM:618019" "SCTID:733086003" "GARD:415" "OMIM:200130" @@ -28295,6 +28301,7 @@ "MESH:C563111" "UMLS:C0796125" "Orphanet:2985" + "OMIM:618019" "PMID:34814699" "MEDGEN:1626589" "OMIM:617707" @@ -28738,7 +28745,6 @@ "ICD9:192" "MEDGEN:99231" "NCIT:C4788" - "NCIt:C7290" "UMLS:C1858392" "GARD:18179" "MESH:C565780" @@ -28752,6 +28758,7 @@ "Orphanet:2863" "UMLS:C1861448" "MEDGEN:350025" + "NCIt:C7290" "UMLS:C2827512" "NCIt:C84823" "UMLS:C1857527" @@ -28825,11 +28832,11 @@ "MedDRA:10038534" "ICD9:016.00" "SCTID:44323002" + "OMIM:605407" + "ICD10:G24.1" "ISBN-13:978-0632067107" "ISBN-10:0632067101" "ICD10:M72" - "OMIM:605407" - "ICD10:G24.1" "SNOMEDCT:133599002" "ZFA:0009333" "PMID:37794183" @@ -29117,12 +29124,12 @@ "UMLS:C1290403" "MEDGEN:224850" "PMID:28240269" - "OMIM:249599" - "ICD10:Q87.8" "MEDGEN:678520" "DOID:0050825" "SCTID:123596001" "UMLS:C0854140" + "OMIM:249599" + "ICD10:Q87.8" "PMID:29875488" "PMID:33634981" "PMID:32641083" @@ -29509,6 +29516,7 @@ "OMIM:192800" "MeSH:C536344" "ICD10:Q87.5" + "PMID:27179730" "PMID:5835442" "KEGG:C05565" "Reaxys:83925" @@ -29516,7 +29524,6 @@ "PMID:13960896" "PMID:3760095" "HMDB:HMDB0001212" - "PMID:27179730" "UMLS:C1302864" "NCIT:C27255" "ICDO:8413/3" @@ -30215,13 +30222,13 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" - "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" + "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" @@ -30572,11 +30579,11 @@ "Reaxys:52571" "PMID:21259322" "PMID:37794183" + "PMID:29875488" "GARD:18921" "Orphanet:73230" "MEDGEN:928495" "UMLS:C4302826" - "PMID:29875488" "SNOMEDCT:258720002" "NCIt:C48517" "MO:743" @@ -30725,8 +30732,8 @@ "MEDGEN:1672494" "ICD10CM:G23.2" "GARD:20549" - "Orphanet:1020" "GARD:12798" + "Orphanet:1020" "UMLS:C4721916" "MEDGEN:1648461" "SCTID:76043009" @@ -31039,13 +31046,13 @@ "NCIT:C34403" "HP:0002634" "SCTID:72092001" - "FBdv:00005334" "GARD:19301" "SCTID:764629008" "MEDGEN:419849" "MESH:C537762" "Orphanet:96060" "UMLS:C2931603" + "FBdv:00005334" "NCIT:C8985" "NCIT:C8987" "DOID:5482" @@ -31072,13 +31079,13 @@ "MEDGEN:1801342" "PMID:37794183" "PMID:37794183" - "UMLS:C5547329" - "MEDGEN:1788782" "GARD:12680" "MEDGEN:904073" "UMLS:C4225379" "OMIM:616299" "Orphanet:401862" + "UMLS:C5547329" + "MEDGEN:1788782" "PMID:29875488" "UMLS:C1839758" "MEDGEN:1842865" @@ -31123,15 +31130,15 @@ "SNOMEDCT_US:1744008" "UMLS:C0016873" "PMID:29875488" + "PMID:32641083" + "UMLS:C0581142" + "NCIt:C128974" + "MedDRA:1005MedDRA:1006" "SCTID:126832004" "UMLS:C0345832" "NCIT:C4432" "MEDGEN:91055" "DOID:7505" - "PMID:32641083" - "UMLS:C0581142" - "NCIt:C128974" - "MedDRA:1005MedDRA:1006" "UMLS:C0020456" "NCIt:C26797" "DOID:4195" @@ -31233,6 +31240,12 @@ "DOID:8717" "MedDRA:10011985" "ICD10:L89" + "ICD10:D51.9" + "ICD10:D51.8" + "ICD10:D51.3" + "ICD10:D51.2" + "ICD10:D51.1" + "ICD10:D51.0" "SCTID:763797003" "UMLS:C0796124" "GARD:4528" @@ -31246,12 +31259,6 @@ "UMLS:C2931722" "Orphanet:2235" "GARD:1234" - "ICD10:D51.9" - "ICD10:D51.8" - "ICD10:D51.3" - "ICD10:D51.2" - "ICD10:D51.1" - "ICD10:D51.0" "MEDGEN:129219" "icd11.foundation:792755706" "NCIT:C36171" @@ -31315,6 +31322,7 @@ "PMID:23564374" "CiteXplore:22209975" "PMID:35668104" + "PMID:33634981" "PMID:31099426" "Beilstein:5364666" "PMID:18062751" @@ -31343,7 +31351,6 @@ "PMID:12959312" "Reaxys:5364666" "NCIt:C1599" - "PMID:33634981" "ICD10:N25.8" "OMIM:611590" "DOID:4337" @@ -31352,16 +31359,16 @@ "UMLS:C0011640" "MEDGEN:4237" "SCTID:266148000" - "MESH:D036841" - "MeSH:D036841" - "ICD10:T61.0" - "SCTID:241774007" - "MONDO:0043230" "MEDGEN:1433102" "UMLS:C1739100" "Orphanet:435743" "GARD:21814" "DOID:0050939" + "MESH:D036841" + "MeSH:D036841" + "ICD10:T61.0" + "SCTID:241774007" + "MONDO:0043230" "SNOMEDCT:431375005" "MeSH:D016935" "PMID:35347128" @@ -31428,16 +31435,15 @@ "MEDGEN:376521" "Orphanet:100986" "HMDB:0041785" - "ICD10:Q93.5" - "MEDGEN:1842770" - "Orphanet:1132" - "GARD:741" - "UMLS:C5680872" "NCIt:C29484" "PMID:815725" "MeSH:D010289" "MedDRA:10044107" "SNOMEDCT:225372007" + "MEDGEN:1842770" + "Orphanet:1132" + "GARD:741" + "UMLS:C5680872" "SCTID:47841006" "NCIT:C34837" "MEDGEN:6527" @@ -31450,6 +31456,7 @@ "icd11.foundation:1866017256" "GARD:12643" "OMIMPS:253310" + "ICD10:Q93.5" "Orphanet:2805" "icd11.foundation:634711891" "MESH:C564908" @@ -31565,8 +31572,8 @@ "MeSH:D015231" "UMLS:C0036917" "MESH:D015231" - "ICD10:A63" "MEDGEN:20728" + "ICD10:A63" "Orphanet:52" "DOID:9245" "UMLS:C0085280" @@ -31666,8 +31673,6 @@ "MedDRA:10015991" "https://cellxgene.cziscience.com/cellguide/CL_0000860" "OMIM:300699" - "NCIt:C41477" - "GO:0003016" "ZFA:0005621" "EMAPA:35179" "MA:0002780" @@ -31683,6 +31688,8 @@ "SCTID:91273001" "MESH:D000140" "DOID:3650" + "NCIt:C41477" + "GO:0003016" "OMIM:272350" "UMLS:C1802405" "ICD10:Q82.0" @@ -31736,15 +31743,15 @@ "OMIM:612934" "ICD10:E74.0" "PMID:29875488" - "UMLS:C5394674" - "Orphanet:329173" - "GARD:17494" - "MEDGEN:1720168" "UMLS:C0175692" "MeSH:C535880" "MedDRA:10074947" "OMIM:243800" "ICD10:Q87.8" + "UMLS:C5394674" + "Orphanet:329173" + "GARD:17494" + "MEDGEN:1720168" "PMID:29875488" "DOID:5624" "MEDGEN:163666" @@ -32215,14 +32222,12 @@ "MONDO:0000536" "DOID:0050921" "PMID:37794183" + "OMIM:300886" "ZFA:0009017" "NCIt:C13014" "CALOHA:TS-1195" "SNOMEDCT:53945006" "FMA:83553" - "OMIM:300886" - "PMID:28240269" - "http://orcid.org/0000-0001-9043-693X" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -32230,10 +32235,9 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" + "PMID:28240269" + "http://orcid.org/0000-0001-9043-693X" "Orphanet:436151" - "UMLS:C5543206" - "MEDGEN:1787876" - "OMIM:619234" "MedDRA:10069461" "NANDO:1200790" "NANDO:2200470" @@ -32245,6 +32249,9 @@ "SCTID:415764005" "OMIM:276710" "DOID:0050727" + "UMLS:C5543206" + "MEDGEN:1787876" + "OMIM:619234" "NCIT:C99015" "Orphanet:2880" "ICD9:277.89" @@ -32374,6 +32381,7 @@ "MESH:C536840" "UMLS:C0431637" "MeSH:C537371" + "PMID:23823483" "MEDGEN:335399" "SCTID:700111000" "OMIM:607364" @@ -32381,7 +32389,6 @@ "DOID:0110144" "UMLS:C1846343" "GARD:9659" - "PMID:23823483" "PMID:28928442" "PMID:29875488" "Orphanet:295079" @@ -32545,6 +32552,7 @@ "MedDRA:10053432" "NORD:998" "PMID:28240269" + "PMID:35347128" "PMID:1146729" "PMID:31957471" "PMID:17823432" @@ -32609,7 +32617,6 @@ "FooDB:FDB002431" "HMDB:HMDB0001492" "PMID:11811542" - "PMID:35347128" "DOID:0050722" "MESH:C566618" "MEDGEN:400935" @@ -32689,11 +32696,11 @@ "GARD:19124" "MEDGEN:1669448" "PMID:18464913" - "PMID:19748469" "MEDGEN:275548" "DOID:6936" "NCIT:C6160" "UMLS:C1519823" + "PMID:19748469" "OMIM:300489" "MeSH:D055534" "ICD10:G12.2" @@ -33012,8 +33019,8 @@ "GARD:17645" "UMLS:C4022001" "PMID:29875488" - "OMIM:600989" "PMID:33634981" + "OMIM:600989" "RRID:CVCL_D581" "BTO:0005242" "ZFA:0009082" @@ -33154,9 +33161,9 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" + "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" - "PMID:32641083" "MEDGEN:1781858" "Orphanet:439849" "NCIT:C176624" @@ -34480,6 +34487,14 @@ "SCTID:717772000" "ICD10:Q87.8" "PMID:28240269" + "OMIM:613002" + "OMIM:614849" + "ICD10:B00.4+" + "OMIM:617900" + "OMIM:616532" + "ICD10:G05.1*" + "OMIM:614850" + "OMIM:610551" "CAS:30344-00-4" "PMID:15827267" "PMID:16380646" @@ -34503,14 +34518,6 @@ "PMID:21278301" "PMID:11437716" "PMID:21303648" - "OMIM:613002" - "OMIM:614849" - "ICD10:B00.4+" - "OMIM:617900" - "OMIM:616532" - "ICD10:G05.1*" - "OMIM:614850" - "OMIM:610551" "UMLS:C0232180" "SNOMEDCT_US:442119001" "SNOMEDCT_US:253175003" @@ -34723,12 +34730,12 @@ "DOID:0050772" "MEDGEN:409988" "ICD10CM:G11.4" - "PMID:33634981" " CLO:0051612" " CLO:0007905" "BTO:0005493" "CLO:0007904" "RRID:CVCL_0593" + "PMID:33634981" "Orphanet:293199" "ICD9:171.9" "ONCOTREE:PLRMS" @@ -34812,15 +34819,15 @@ "PMID:2474544" "OMIM:269860" "ICD10:Q77.2" - "UMLS:C0271695" - "ICD10:E13" - "MeSH:D056731" - "OMIM:262190" "Orphanet:440731" "OMIM:615604" "GARD:17748" "UMLS:C3810090" "MEDGEN:816420" + "UMLS:C0271695" + "ICD10:E13" + "MeSH:D056731" + "OMIM:262190" "SNOMEDCT:68916009" "OMIM:258200" "ICD10:Q87.2" @@ -35119,13 +35126,13 @@ "DOID:11372" "SNOMEDCT:33995003" "PMID:29875488" + "UMLS:C4022919" "MESH:C537364" "UMLS:C1855788" "OMIM:242510" "MEDGEN:344577" "Orphanet:2269" "GARD:292" - "UMLS:C4022919" "NIF_Subcellular:sao-593830697" "FMA:62983" "Wikipedia:Myelin" @@ -35202,14 +35209,14 @@ "PMID:9540973" "OMIM:603438" "PMID:29875488" + "OMIM:141350" + "ICD10:Q67.4" "UMLS:C1837564" "GARD:17583" "Orphanet:364577" "OMIM:608670" "MEDGEN:325196" "MESH:C563880" - "OMIM:141350" - "ICD10:Q67.4" "PMID:37794183" "MedDRA:10070179" "ICD10:N04.1" @@ -36008,12 +36015,12 @@ "UMLS:C1838875" "UMLS:C4011556" "PMID:37794183" - "MONDO:0002515" "NCIT:C3959" "MedDRA:10062000" "UMLS:C0267792" "MEDGEN:82758" "DOID:3118" + "MONDO:0002515" "Reaxys:17116739" "LIPID_MAPS_instance:LMFA08020078" "NCIT:C6341" @@ -36027,12 +36034,12 @@ "Orphanet:643538" "OMIM:616863" "PMID:29875488" + "ICD10:Q10.3" "Orphanet:238666" "ICD10CM:E23.0" "UMLS:C5679849" "MEDGEN:1842176" "GARD:20643" - "ICD10:Q10.3" "NCIt:C117213" "CLO:0001654" "RRID:CVCL_1067" @@ -36406,11 +36413,12 @@ "MEDGEN:1823965" "PMID:24816252" "PMID:28240269" + "PMID:29875488" + "PMID:35347128" "MEDGEN:1785711" "GARD:18273" "UMLS:C5543280" "OMIM:619271" - "PMID:35347128" "MESH:C564200" "MEDGEN:333882" "GARD:17995" @@ -36422,7 +36430,6 @@ "SCTID:763406004" "MEDGEN:1641955" "GARD:10855" - "PMID:29875488" "MeSH:D013534" "SNOMEDCT:445320007" "PERSON: James Malone" @@ -36738,14 +36745,14 @@ "FMA:3786" "PMID:35347128" "KEGG COMPOUND:C03149" + "UMLS:C0232939" + "SNOMEDCT_US:8913004" "UMLS:C1258034" "MESH:D045463" "MEDGEN:226249" "DOID:2930" "MONDO:0005660" "MeSH:D045463" - "UMLS:C0232939" - "SNOMEDCT_US:8913004" "OMIM:604314" "OMIM:300607" "OMIM:300423" @@ -36952,11 +36959,11 @@ "PMID:29875488" "ZFA:0000124" "TAO:0000124" - "NCIT:C34277" "EMAPA:16847" + "NCIT:C34277" "EHDAA2:0000744" - "BTO:0003391" "AAO:0011058" + "BTO:0003391" "XAO:0003266" "EFO:0002577" "UMLS:C1514451" @@ -37415,8 +37422,6 @@ "ICD9:405.9" "UMLS:C0155616" "UMLS:C4022983" - "OMIM:218550" - "ICD10:Q87.2" "ICD10:I06" "MEDGEN:226776" "UMLS:C1260873" @@ -37429,6 +37434,8 @@ "OMIM:618496" "ICD9:424.1" "DOID:62" + "OMIM:218550" + "ICD10:Q87.2" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -37443,6 +37450,7 @@ "MONDO:0018830" "PMID:26068415" "PMID:35668104" + "PMID:28240269" "CAS:54192-66-4" "LINCS:LSM-6449" "PMID:10680067" @@ -37460,7 +37468,6 @@ "OMIM:609423" "NCIt:C14220" "MedDRA:10068341" - "PMID:28240269" "MedDRA:10063361" "ICD9:759.89" "SCTID:28557005" @@ -37535,8 +37542,8 @@ "MEDGEN:220393" "SCTID:128106003" "DOID:0060573" - "PMID:35697867" "PMID:36006120" + "PMID:35697867" "UMLS:C1866134" "UMLS:C5679991" "MEDGEN:1826160" @@ -37578,8 +37585,8 @@ "ICD9:602.9" "ICD10:N42" "UMLS:C0033575" - "MESH:D011469" "DOID:47" + "MESH:D011469" "NCIT:C26865" "SCTID:30281009" "MONDO:0003105" @@ -37892,12 +37899,12 @@ "SCTID:116021002" "UMLS:C1263739" "NCIt:C40943" - "OMIM:613398" "UMLS:C3810343" "OMIM:615709" "GARD:17642" "Orphanet:397927" "MEDGEN:816673" + "OMIM:613398" "PMID:33067605" "NCIt:C156149" "PMID:35347128" @@ -38587,6 +38594,8 @@ "UMLS:C3714534" "Orphanet:79145" "PMID:35050183" + "PMID:24014485" + "PMID:12478566" "Orphanet:883" "GARD:18711" "MedDRA:10043276" @@ -38594,8 +38603,6 @@ "UMLS:C4708601" "MEDGEN:1646497" "SCTID:768937006" - "PMID:24014485" - "PMID:12478566" "MESH:C538352" "UMLS:C1850052" "GARD:4267" @@ -38822,7 +38829,6 @@ "SNOMEDCT:205806009" "DOID:14702" "KEGG COMPOUND:C13540" - "PMID:35347128" "GARD:5878" "MeSH:D001404" "MESH:D001404" @@ -38838,6 +38844,7 @@ "icd11.foundation:1947003329" "MONDO:0005661" "ICD9:088.82" + "PMID:35347128" "PMID:32193296" "ZFA:0001077" "MEDGEN:934612" @@ -39785,8 +39792,8 @@ "MESH:D001660" "MeSH:D001660" "SCTID:105997008" - "MedDRA:10004676" "ICD9:576.9" + "MedDRA:10004676" "MEDGEN:108201" "ICD10:K83.9" "DOID:9741" @@ -39851,7 +39858,6 @@ "UMLS:C0022283" "ICD10:Q87.8" "OMIM:300337" - "PMID:28240269" "Orphanet:221145" "DOID:0070139" "OMIM:613177" @@ -39861,6 +39867,11 @@ "icd11.foundation:424903269" "UMLS:C2750804" "GARD:17140" + "PMID:28240269" + "NCIT:C35318" + "UMLS:C0264995" + "MEDGEN:78117" + "PMID:37794183" "NCIt:C87175" "MedDRA:10019161" "MedDRA:10009259" @@ -39874,10 +39885,6 @@ "MedDRA:10009267" "DOID:9296" "MedDRA:10009265" - "NCIT:C35318" - "UMLS:C0264995" - "MEDGEN:78117" - "PMID:37794183" "MEDGEN:1805655" "UMLS:C5676889" "OMIM:605711" @@ -40057,12 +40064,12 @@ "SNOMEDCT:234024001" "MeSH:D058686" "FBbt:00016001" + "PMID:35347128" "PMID:26683280" "MeSH:D006524" "DOID:1884" "ICD10:B18" "SNOMEDCT:13041000" - "PMID:35347128" "OMIM:610279" "Orphanet:329329" "GARD:21489" @@ -40132,9 +40139,9 @@ "SNOMEDCT:304685003" "FMA:9610" "NCIt:C33250" - "PMID:21248844" "OMIM:180200" "NCIt:C7541" + "PMID:21248844" "UMLS:C5568559" "OMIM:618261" "Orphanet:538958" @@ -40960,6 +40967,7 @@ "OMIM:601165" "ICD10:Q87.8" "PMID:31015401" + "EMAPA:17414" "galen:Elbow" "SCTID:76248009" "EHDAA2:0000429" @@ -40973,7 +40981,6 @@ "MA:0000036" "EHDAA:4166" "FMA:24901" - "EMAPA:17414" "UMLS:C1849152" "icd11.foundation:1286493807" "OMIM:200990" @@ -40986,10 +40993,6 @@ "GARD:5721" "MEDGEN:162915" "PMID:35050183" - "Reaxys:2450312" - "PMID:20870466" - "PMID:24349936" - "PMID:22447217" "UMLS:C0271097" "icd11.foundation:1452641873" "MESH:D052245" @@ -41003,6 +41006,10 @@ "MEDGEN:78754" "NORD:1816" "DOID:0050439" + "Reaxys:2450312" + "PMID:20870466" + "PMID:24349936" + "PMID:22447217" "KEGG COMPOUND:101200-48-0" "KEGG:C10962" "Pesticides:tribenuron" @@ -42139,10 +42146,10 @@ "UMLS:C1866650" "OMIM:184510" "MeSH:C537487" + "SNOMEDCT:104659004" "PubChem:22908099" "CAS:162338-11-6" "PMID:33634981" - "SNOMEDCT:104659004" "http://purl.enanomapper.org/onto/ENM_0000029" "MedDRA:10007269" "MEDGEN:442807" @@ -42250,6 +42257,7 @@ "AAO:0010610" "GAID:343" "NCIT:C12724" + "PMID:36006120" "DOID:4378" "MeSH:D021183" "PMID:35888748" @@ -42271,7 +42279,6 @@ "MEDGEN:101033" "NCIT:C4793" "ICD9:202.80" - "PMID:36006120" "GARD:10692" "NORD:1529" "UMLS:C0029294" @@ -42362,12 +42369,12 @@ "BTO:0002417" "MESH:D006377" "SNOMEDCT:29594005" - "ICD10:Q87.8" - "OMIM:611812" "NCIT:C6284" "UMLS:C1332606" "MEDGEN:231457" "DOID:2127" + "ICD10:Q87.8" + "OMIM:611812" "NCIT:C35501" "MEDGEN:438070" "UMLS:C2703042" @@ -42453,6 +42460,9 @@ "ICDO:9761/3" "MEDGEN:473052" "ICDO:9671/3" + "UMLS:C1263995" + "MEDGEN:688237" + "SCTID:127039000" "MONDO:0005837" "ICD9:170.1" "DOID:2338" @@ -42464,9 +42474,6 @@ "NCIT:C35178" "UMLS:C0153511" "EFO:0007356" - "UMLS:C1263995" - "MEDGEN:688237" - "SCTID:127039000" "Orphanet:247198" "TGEMO:00041" "MGI:3609372" @@ -42709,13 +42716,13 @@ "MEDGEN:1808551" "GARD:20625" "PMID:35144566" - "Orphanet:98582" "ICD9:756.3" "SCTID:254050009" "Orphanet:93426" "GARD:16822" "MEDGEN:609403" "UMLS:C0432195" + "Orphanet:98582" "MEDGEN:375800" "OMIM:300261" "MESH:C564551" @@ -43121,10 +43128,6 @@ "NCIT:C26859" "UMLS:C0032226" "PMID:37164013" - "ICD10:Q87.8" - "MedDRA:10080314" - "OMIM:153480" - "UMLS:C0265326" "PMID:29875488" "Reactome:R-HSA-3076905" "MetaCyc:BIOTINIDASE-RXN" @@ -43133,6 +43136,10 @@ "Reactome:R-HSA-4167509" "RHEA:13081" "Reactome:R-HSA-3325540" + "ICD10:Q87.8" + "MedDRA:10080314" + "OMIM:153480" + "UMLS:C0265326" "KEGG COMPOUND:C09157" "OMIM:618863" "NCIT:C84753" @@ -43388,13 +43395,13 @@ "OMIM:617276" "OMIM:618437" "PMID:29875488" - "OMIM:309610" "SCTID:126970001" "MEDGEN:226811" "NCIT:C5825" "UMLS:C1263896" "DOID:3421" "ICD9:239.7" + "OMIM:309610" "ICD10:E75.2" "UMLS:C0751917" "UMLS:C0151747" @@ -43496,7 +43503,6 @@ "SCTID:721307000" "GARD:12765" "DOID:0060888" - "ICD10:P78.3" "Wikipedia:Rotenone" "PMID:32972993" "LINCS:LSM-5260" @@ -43525,6 +43531,7 @@ "NCIt:C76087" "KNApSAcK:C00002568" "MeSH:D012402" + "ICD10:P78.3" "NCIt:C997" "SNOMEDCT:81868000" "MeSH:D008042" @@ -43736,6 +43743,10 @@ "GARD:104" "UMLS:C0403555" "MESH:C536480" + "UMLS:C1839129" + "OMIM:314300" + "MeSH:C536970" + "ICD10:Q87.8" "ICD9:483.0" "MESH:D011019" "MEDGEN:19363" @@ -43746,10 +43757,6 @@ "MeSH:D011019" "MONDO:0005867" "SCTID:46970008" - "UMLS:C1839129" - "OMIM:314300" - "MeSH:C536970" - "ICD10:Q87.8" "MEDGEN:382527" "UMLS:C2675112" "OMIM:612628" @@ -44320,12 +44327,12 @@ "PMID:22429992" "MeSH:D003401" "PMID:19651674" + "UMLS:C2931722" "PMID:35347128" "UMLS:C0018776" "NCIT:C34662" "icd11.foundation:1513090105" "MEDGEN:9162" - "UMLS:C2931722" "GARD:17218" "Orphanet:254351" "OMIM:613729" @@ -44561,10 +44568,10 @@ "Orphanet:79278" "NANDO:1200815" "GARD:4527" + "PMID:24816252" "MeSH:D006193" "NCIt:C86431" "SNOMEDCT:44470000" - "PMID:24816252" "UMLS:C1184923" "ZFA:0000414" "GARD:17399" @@ -44641,6 +44648,7 @@ "SCTID:230394006" "MESH:D017034" "KEGG COMPOUND:C18386" + "ZFA:0001130" "SCTID:41446000" "MedDRA:10005148" "MeSH:D001762" @@ -44661,7 +44669,6 @@ "ICD9:373.9" "ICD10:H01.9" "DOID:9423" - "ZFA:0001130" "Wikipedia:Phase_transfer_catalyst" "ICD10:E75.2" "MedDRA:10008852" @@ -44756,12 +44763,12 @@ "MEDGEN:671079" "DOID:0060250" "SCTID:203639008" - "PMID:35347128" "GARD:9909" "OMIM:601680" "DOID:0111600" "MEDGEN:1676961" "UMLS:C5193014" + "PMID:35347128" "MEDGEN:325270" "OMIM:608567" "UMLS:C1837845" @@ -44891,7 +44898,6 @@ "PMID:20453710" "PMID:25091629" "HMDB:HMDB0061717" - "PMID:23823483" "KEGG:C01157" "PMID:616023" "PMID:1166829" @@ -44922,6 +44928,7 @@ "PMID:17021603" "PMID:12148113" "PMID:6783274" + "PMID:23823483" "OMIM:619813" "UMLS:C5676954" "MEDGEN:1802793" @@ -45448,8 +45455,8 @@ "GARD:17665" "NCIt:C106051" "PMID:29875488" - "OMIM:192050" "Orphanet:140653" + "OMIM:192050" "PMID:31530798" "PMID:37794183" "NCIT:C171201" @@ -45715,14 +45722,14 @@ "UMLS:C5677019" "MEDGEN:1804308" "KEGG COMPOUND:C18606" - "CLO:0003587" - "BTO:0003277" - "RRID:CVCL_4210" "UMLS:C4310641" "OMIM:617270" "GARD:13361" "DOID:0081220" "MEDGEN:934608" + "CLO:0003587" + "BTO:0003277" + "RRID:CVCL_4210" "ICD9:372.30" "MedDRA:10010741" "MESH:D003231" @@ -45834,9 +45841,9 @@ "icd11.foundation:1154032108" "MESH:C580334" "Orphanet:87884" + "PMID:33634981" "UMLS:C2931243" "MeSH:C536568" - "PMID:33634981" "MEDGEN:331297" "DOID:0110543" "OMIM:601317" @@ -45897,10 +45904,10 @@ "MAT:0000494" "MA:0000118" "EMAPA:18427" - "PMID:29875488" "UMLS:C1261128" "OMIM:176690" "MeSH:C536422" + "PMID:29875488" "GARD:21349" "UMLS:C5681033" "Orphanet:309824" @@ -45916,9 +45923,6 @@ "GARD:8521" "MEDGEN:337123" "ERO:0001688" - "ICD10:Q87.8" - "MedDRA:10079365" - "OMIM:610253" "MEDGEN:324411" "UMLS:C1836010" "DOID:0060491" @@ -45928,6 +45932,9 @@ "GARD:17479" "PMID:38565889" "PMID:37794183" + "ICD10:Q87.8" + "MedDRA:10079365" + "OMIM:610253" "PMID:33676726" "PMID:98714" "PMID:21177962" @@ -46162,6 +46169,7 @@ "OMIM:617917" "OMIM:608673" "ICD10:G60.0" + "PMID:35347128" "PMID:28240269" "PMID:36168886" "SCTID:719166003" @@ -46173,7 +46181,6 @@ "icd11.foundation:1983063881" "MESH:C563869" "PMID:37794183" - "PMID:35347128" "ICD10:Q87.1" "Orphanet:420702" "MEDGEN:934731" @@ -47218,6 +47225,17 @@ "UMLS:C0340548" "OMIM:234810" "MedDRA:10077396" + "PMID:36168886" + "OMIM:619777" + "UMLS:C5676932" + "DOID:0070386" + "MEDGEN:1809351" + "MeSH:C092824" + "CiteXplore:7698199" + "PMID:7698199" + "Reaxys:8374093" + "CAS:135721-98-1" + "ChemIDplus:135721-98-1" "MedDRA:10073860" "OMIM:618475" "MEDGEN:10571" @@ -47233,17 +47251,6 @@ "SCTID:127027008" "ICDO:8680/1" "MESH:D010235" - "PMID:36168886" - "OMIM:619777" - "UMLS:C5676932" - "DOID:0070386" - "MEDGEN:1809351" - "MeSH:C092824" - "CiteXplore:7698199" - "PMID:7698199" - "Reaxys:8374093" - "CAS:135721-98-1" - "ChemIDplus:135721-98-1" "PMID:35347128" "UMLS:C0856897" "MEDGEN:208988" @@ -47492,12 +47499,6 @@ "Wikipedia:Month" "NCIt:C29846" "SNOMEDCT:258706009" - "SCTID:721879006" - "MESH:C537466" - "Orphanet:2556" - "DOID:0111875" - "OMIMPS:309801" - "GARD:3659" "MeSH:D009468" "Orphanet:68381" "MEDGEN:10323" @@ -47510,6 +47511,12 @@ "NANDO:1100001" "MedDRA:10029323" "MESH:D009468" + "SCTID:721879006" + "MESH:C537466" + "Orphanet:2556" + "DOID:0111875" + "OMIMPS:309801" + "GARD:3659" "UMLS:C1303009" "SNOMEDCT_US:400962005" "DOID:1059" @@ -47969,8 +47976,8 @@ "SCTID:362841006" "FMA:86477" "BTO:0002819" - "EMAPA:35270" "EFO:0001918" + "EMAPA:35270" "MA:0002905" "UMLS:C1849173" "icd11.foundation:1318287619" @@ -48062,8 +48069,8 @@ "UMLS:C0031345" "MEDGEN:10691" "NCIT:C26850" - "PMID:20075370" "RRID:CVCL_JY35" + "PMID:20075370" "PMID:24816252" "UMLS:C1849930" "OMIM:261550" @@ -48323,7 +48330,6 @@ "ICD10:G11.8" "UMLS:C0751670" "ICD10:E34.8" - "PMID:29875488" "MedDRA:10045242" "OMIM:125853" "MeSH:D003924" @@ -48333,6 +48339,7 @@ "OMIM:601283" "DOID:9352" "OMIM:616087" + "PMID:29875488" "NCIT:C28078" "PMID:28240269" "NCIt:C15227" @@ -48553,6 +48560,7 @@ "UMLS:C0334549" "OMIM:118210" "ICD10:G60.0" + "PMID:28240269" "UMLS:C1857471" "GARD:1605" "MESH:C535597" @@ -48561,7 +48569,6 @@ "MEDGEN:347462" "OMIM:218670" "icd11.foundation:1684038717" - "PMID:28240269" "PMID:36168886" "Orphanet:443950" "OMIM:617017" @@ -48658,8 +48665,8 @@ "SCTID:126734005" "GAID:514" "MA:0002067" - "UMLS:C0085427" "MESH:D016909" + "UMLS:C0085427" "NCIT:C12824" "EMAPA:36530" "SCTID:181351007" @@ -48863,8 +48870,8 @@ "NCIt:C48579" "SNOMEDCT:258997004" "MO:1011" - "PMID:31015401" "PMID:26379185" + "PMID:31015401" "OMIM:604370" "GARD:12351" "UMLS:C2676676" @@ -48956,9 +48963,9 @@ "NANDO:1200710" "NANDO:2200664" "NANDO:2200657" - "PMID:26116762" "UMLS:C0423848" "SNOMEDCT_US:95339000" + "PMID:26116762" "MEDGEN:569676" "SCTID:403981003" "Orphanet:157791" @@ -48999,8 +49006,8 @@ "Orphanet:386" "UMLS:C1333971" "MEDGEN:232278" - "NCIT:C5751" "GARD:2651" + "NCIT:C5751" "SCTID:715397000" "SNOMEDCT:258794004" "PMID:25935106" @@ -49431,10 +49438,10 @@ "RRID:CVCL_1259" "BTO:0005368" "CLO:0003647" - "PMID:23852452" - "UMLS:C1851897" "MeSH:C537851" "UMLS:C1859083" + "PMID:23852452" + "UMLS:C1851897" "PMID:34610981" "PMID:31015401" "MeSH:D013298" @@ -49473,9 +49480,9 @@ "Orphanet:79235" "icd11.foundation:846453488" "Orphanet:88637" - "PMID:28240269" "OMIM:613612" "ICD10:E77.8" + "PMID:28240269" "MEDGEN:140768" "NANDO:2200436" "GARD:2788" @@ -49525,11 +49532,16 @@ "SNOMEDCT:121817007" "PMID:26068415" "BTO:0002217" - "OMIM:614037" "DOID:5261" "MEDGEN:234095" "UMLS:C1332848" "NCIT:C5364" + "OMIM:614037" + "GARD:16425" + "UMLS:C5436882" + "OMIM:619133" + "MEDGEN:1771903" + "DOID:0081380" "ORDO:Orphanet_83467" "Wikipedia:Morvan%27s_syndrome" "SCTID:763803004" @@ -49539,11 +49551,6 @@ "UMLS:C3854373" "MedDRA:10075006" "MEDGEN:1632829" - "GARD:16425" - "UMLS:C5436882" - "OMIM:619133" - "MEDGEN:1771903" - "DOID:0081380" "OMIM:617711" "MeSH:D013036" "DOID:2481" @@ -49607,13 +49614,13 @@ "DOID:3491" "icd11.foundation:1987089698" "ICD10:F23" - "PMID:28240269" "MIAA:0000210" "MESH:D003335" "MAT:0000210" "EFO:0000379" "FBbt:00005800" "BTO:0000291" + "PMID:28240269" "Orphanet:209056" "GARD:20431" "UMLS:C5680842" @@ -49633,6 +49640,14 @@ "GARD:18679" "MEDGEN:1842643" "Orphanet:176" + "UMLS:C0947622" + "DOID:11151" + "MEDGEN:215268" + "SCTID:235919008" + "MESH:D041761" + "MedDRA:10049890" + "MeSH:D041761" + "MONDO:0006698" "Orphanet:2135" "MESH:C536033" "OMIM:248910" @@ -49649,14 +49664,6 @@ "SCTID:698851003" "OMIM:206900" "DOID:0111801" - "UMLS:C0947622" - "DOID:11151" - "MEDGEN:215268" - "SCTID:235919008" - "MESH:D041761" - "MedDRA:10049890" - "MeSH:D041761" - "MONDO:0006698" "Orphanet:228360" "OMIM:256731" "GARD:1223" @@ -49966,8 +49973,8 @@ "MEDGEN:1801983" "OMIM:619897" "PMID:24816252" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02571&Product=CC" "ZFA:0000425" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02571&Product=CC" "BTO:0001162" "EMAPA:35141" "Wikipedia:Apocrine" @@ -50096,13 +50103,13 @@ "ICD10EXP:E72.0+" "ICD10EXP:N16.3*" "PMID:28240269" + "MP:0002975" "SCTID:92027006" "DOID:0060094" "UMLS:C0684516" "NCIT:C4880" "ICD9:213.9" "MEDGEN:146337" - "MP:0002975" "EFO:0003577" "TAO:0000815" "ZFA:0000815" @@ -50371,13 +50378,13 @@ "SCTID:719599008" "Orphanet:217346" "DOID:0060408" - "SNOMEDCT:443929000" - "OMIM:618360" "icd11.foundation:1414797713" "MEDGEN:138112" "ICDO:8100/0" "UMLS:C0349658" "NCIT:C27132" + "SNOMEDCT:443929000" + "OMIM:618360" "PMID:19885389" "PMID:7978266" "CAS:1115-65-7" @@ -50398,15 +50405,15 @@ "MESH:D010845" "ICD9:786.09" "OMIM:257500" + "PMID:29875488" + "UMLS:C1845206" + "FBbt:00005523" "GARD:12356" "DOID:0070236" "UMLS:C3810012" "MEDGEN:816342" "OMIM:615582" "MONDO:0014262" - "PMID:29875488" - "UMLS:C1845206" - "FBbt:00005523" "MEDGEN:232156" "NCIT:C7032" "DOID:7051" @@ -50439,6 +50446,7 @@ "GARD:21621" "Orphanet:391366" "UMLS:C4751595" + "PMID:23823483" "LIPID_MAPS_instance:LMST05020001" "PMID:13916108" "PMID:8987136" @@ -50450,7 +50458,6 @@ "HMDB:HMDB0002759" "CAS:2479-86-9" "PMID:743633" - "PMID:23823483" "MEDGEN:167236" "DOID:0060291" "Orphanet:2710" @@ -50658,8 +50665,8 @@ "UMLS:C1711262" "NCIT:C43630" "EMAPA:37599" - "ZFA:0001133" "PMID:24816252" + "ZFA:0001133" "ICD10:Q23" "GARD:1495" "MEDGEN:1842184" @@ -50749,14 +50756,14 @@ "OMIM:164400" "DOID:1441" "NIFSTD:birnlex_12648" - "Orphanet:262110" - "MEDGEN:444119" - "GARD:3722" - "UMLS:C2931697" "CLO:0002182" "BTO:0000921" "CLO:0002178" "RRID:CVCL_1107" + "Orphanet:262110" + "MEDGEN:444119" + "GARD:3722" + "UMLS:C2931697" "SNOMEDCT_US:236477004" "UMLS:C0543541" "UMLS:C0341706" @@ -50814,6 +50821,7 @@ "Orphanet:401986" "PMID:37794183" "PMID:37794183" + "PMID:35995766" "Orphanet:1876" "ICD10CM:G71.0" "UMLS:C1848586" @@ -50822,9 +50830,10 @@ "OMIM:277320" "GARD:5496" "icd11.foundation:1205053137" - "PMID:35995766" "Orphanet:485382" "OMIM:618723" + "UMLS:C1333977" + "NCIt:C27687" "ICD10CM:J36" "SCTID:15033003" "UMLS:C0031157" @@ -50850,8 +50859,6 @@ "EMAPA:32837" "BAMS:SA" "BM:Tel-Spt" - "UMLS:C1333977" - "NCIt:C27687" "GARD:117" "UMLS:C0265227" "ICD9:759.89" @@ -50917,30 +50924,30 @@ "NANDO:1200963" "GARD:1496" "SNOMEDCT:258798001" + "PMID:29875488" + "PMID:24816252" "MEDGEN:760465" "NCIT:C100093" "UMLS:C1696109" - "PMID:29875488" + "PMID:31015401" "ICD9:191.2" "UMLS:C0153636" "MEDGEN:509347" "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" - "PMID:24816252" + "PMID:26417704" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:31015401" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" - "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -51090,9 +51097,9 @@ "UMLS:C4280656" "SNOMEDCT_US:72239002" "PMID:29875488" - "PMID:29875488" "ICD10:E85.0" "MedDRA:10070594" + "PMID:29875488" "PMID:38565889" "OMIM:190360" "MESH:C566032" @@ -51171,7 +51178,6 @@ "MEDGEN:235462" "MONDO:0006353" "UMLS:C1335343" - "NCIt:C116641" "icd11.foundation:476391827" "MESH:D058186" "UMLS:C2609414" @@ -51180,6 +51186,7 @@ "ICD10CM:N17" "DOID:3021" "PMID:37794183" + "NCIt:C116641" "SCTID:399617002" "UMLS:C0869523" "MEDGEN:163689" @@ -52691,11 +52698,11 @@ "MAT:0000358" "SNOMEDCT:75505008" "NCIt:C79681" + "PMID:23823483" + "PMID:37596262" "ICD10:Q87.8" "OMIM:155145" "UMLS:C1835087" - "PMID:23823483" - "PMID:37596262" "Wikipedia:Nasopharynx" "NCIT:C12423" "EMAPA:17670" @@ -52813,9 +52820,9 @@ "SNOMEDCT:372718005" "KEGG:D08070" "PMID:29844224" - "PMID:37794183" "PMID:29403010" "http://www.ebi.ac.uk/efo/EFO_0005128" + "PMID:37794183" "UMLS:C4022631" "MEDGEN:1716712" "UMLS:C5394362" @@ -53529,7 +53536,6 @@ "UMLS:C1843792" "OMIM:607485" "DOID:0060672" - "PMID:29875488" "OMIM:601547" "OMIM:610019" "OMIM:609741" @@ -53549,6 +53555,7 @@ "OMIM:609376" "MedDRA:10007759" "MedDRA:10057735" + "PMID:29875488" "NANDO:1200944" "GARD:5442" "DOID:0110828" @@ -54003,11 +54010,6 @@ "MEDGEN:373154" "UMLS:C1836706" "DOID:0081101" - "FBbt:00005544" - "PMID:37794183" - "RRID:CVCL_0014" - "CLO:0008873" - "BTO:0000726" "MEDGEN:1684618" "MONDO:0005500" "OMIM:617082" @@ -54016,6 +54018,11 @@ "OMIMPS:212065" "UMLS:C4700504" "OMIM:616457" + "FBbt:00005544" + "PMID:37794183" + "RRID:CVCL_0014" + "CLO:0008873" + "BTO:0000726" "BTO:0000131" "UMLS:C0403554" "GARD:15229" @@ -54284,7 +54291,6 @@ "SCTID:8074002" "MedDRA:10063927" "NCIT:C85020" - "UMLS:C4025183" "MedDRA:10017838" "MedDRA:10017846" "DOID:10808" @@ -54311,6 +54317,7 @@ "MedDRA:10017842" "MedDRA:10055794" "icd11.foundation:1437411258" + "UMLS:C4025183" "OMIM:614702" "MEDGEN:1664257" "DOID:0111480" @@ -54649,22 +54656,22 @@ "FMA:69050" "BTO:0003718" "TAO:0005249" + "SCTID:764959000" + "MEDGEN:381471" + "MESH:C535458" + "UMLS:C1854663" + "Orphanet:3068" + "GARD:1358" + "OMIM:253320" "BTO:0004353" "GAID:681" "EFO:0001391" "MBA:453" "FMA:242642" "SCTID:279252006" - "MESH:D013003" "BAMS:SS" + "MESH:D013003" "neuronames:3241" - "SCTID:764959000" - "MEDGEN:381471" - "MESH:C535458" - "UMLS:C1854663" - "Orphanet:3068" - "GARD:1358" - "OMIM:253320" "MESH:D018307" "UMLS:C0206720" "DOID:3168" @@ -55038,9 +55045,9 @@ "SCTID:2589008" "ICD9:375.01" "UMLS:C0149505" - "PMID:29875488" "SNOMEDCT_US:37125009" "UMLS:C0026961" + "PMID:29875488" "UMLS:C5566660" "DOID:0080012" "MEDGEN:1798083" @@ -55162,8 +55169,8 @@ "MeSH:D000138" "UMLS:C0001122" "SNOMEDCT:51387008" - "HP:0001941" "NCIt:C83504" + "HP:0001941" "SCTID:51387008" "MEDGEN:1296" "GARD:18404" @@ -55645,11 +55652,11 @@ "GARD:12501" "Orphanet:391372" "DOID:0111331" - "PMID:29875488" "UMLS:C0009806" "SNOMEDCT_US:14760008" "UMLS:C0237326" "SNOMEDCT_US:225595004" + "PMID:29875488" "UMLS:C0271429" "SNOMEDCT_US:3110003" "ICD10:R29" @@ -55685,6 +55692,7 @@ "SNOMEDCT_US:81208006" "PMID:37794183" "PMID:37794183" + "PMID:35995766" "UMLS:C1848578" "SCTID:80887004" "Orphanet:79284" @@ -55694,7 +55702,6 @@ "OMIM:277380" "DOID:0050717" "NANDO:2201110" - "PMID:35995766" "PMID:24816252" "PMID:35347128" "RRID:CVCL_3656" @@ -55949,7 +55956,6 @@ "MEDGEN:338875" "MESH:C565010" "CALOHA:TS-0732" - "FMA:18245" "EMAPA:35660" "Wikipedia:Fallopian_tube" "EV:0100112" @@ -55961,6 +55967,7 @@ "SCTID:181463001" "EHDAA2:0000504" "UMLS:C0015560" + "FMA:18245" "MEDGEN:1750188" "OMIM:619044" "DOID:0112109" @@ -56110,8 +56117,6 @@ "NCIT:C12929" "UMLS:C0501403" "EHDAA:3780" - "KEGG COMPOUND:C10438" - "HMDB:0000567" "OMIM:231000" "UMLS:C0017205" "OMIM:230800" @@ -56122,6 +56127,8 @@ "MedDRA:10018048" "OMIM:610539" "ICD10:E75.2" + "KEGG COMPOUND:C10438" + "HMDB:0000567" "icd11.foundation:1628320490" "Orphanet:3471" "ICD9:759.89" @@ -56180,10 +56187,10 @@ "SNOMEDCT:28266005" "Wikipedia:Desmosome" "PMID:28240269" - "SNOMEDCT:73601008" "LIPID_MAPS_class:LMSP0302" "MESH:D015651" "SCTID:26033009" + "SNOMEDCT:73601008" "MESH:C564849" "Orphanet:1092" "GARD:4664" @@ -56333,8 +56340,6 @@ "BTO:0003709" "RRID:CVCL_3791" "CLO:0008905" - "OMIM:611597" - "ICD10:Q12.0" "OMIM:616721" "OMIM:617395" "DOID:0050571" @@ -56347,6 +56352,8 @@ "OMIM:616829" "MESH:C535747" "MONDO:0005501" + "OMIM:611597" + "ICD10:Q12.0" "BTO:0002045" "NCIt:C12685" "SCTID:26682008" @@ -56807,10 +56814,10 @@ "icd11.foundation:1653996588" "MESH:C563785" "PMID:37794183" + "PMID:26068415" "OMIM:620319" "UMLS:C5830418" "MEDGEN:1841054" - "PMID:26068415" "icd11.foundation:149859272" "OMIM:160010" "UMLS:C1834567" @@ -56993,8 +57000,6 @@ "DOID:0112139" "MEDGEN:1745427" "PMID:37794183" - "OMIM:314200" - "ICD10:E07.8" "NCIt:C7673" "ICD9:756.9" "SCTID:51952004" @@ -57002,6 +57007,8 @@ "DOID:0112284" "Orphanet:93284" "PMID:28240269" + "OMIM:314200" + "ICD10:E07.8" "Orphanet:477768" "NCIT:C118847" "ICD9:335.11" @@ -57301,17 +57308,17 @@ "GARD:6042" "icd11.foundation:1253728223" "MEDGEN:87521" - "GARD:17654" - "SCTID:764096006" - "UMLS:C4706677" - "Orphanet:399808" - "MEDGEN:1643966" "UMLS:C5679727" "MEDGEN:1826046" "icd11.foundation:186065235" "Orphanet:262137" "GARD:20836" "PMID:37794183" + "GARD:17654" + "SCTID:764096006" + "UMLS:C4706677" + "Orphanet:399808" + "MEDGEN:1643966" "PMID:37794183" "PMID:28240269" "GARD:6734" @@ -57545,6 +57552,13 @@ "GARD:2594" "MESH:C535627" "ICD9:759.89" + "OMIM:609913" + "DOID:0110355" + "GARD:10395" + "MESH:C563689" + "UMLS:C1835927" + "MEDGEN:322781" + "ICD10CM:H35.5" "GAID:55" "UMLS:C0016536" "EFO:0003053" @@ -57563,13 +57577,6 @@ "CALOHA:TS-2205" "VHOG:0000341" "MESH:D005542" - "OMIM:609913" - "DOID:0110355" - "GARD:10395" - "MESH:C563689" - "UMLS:C1835927" - "MEDGEN:322781" - "ICD10CM:H35.5" "MONDO:0005233" "DOID:3908" "SCTID:254637007" @@ -57773,10 +57780,6 @@ "Orphanet:98964" "OMIM:122200" "GARD:9678" - "DOID:5351" - "MEDGEN:275291" - "UMLS:C1518727" - "NCIT:C39986" "ICD10:E40" "MONDO:0006826" "DOID:13579" @@ -57790,6 +57793,10 @@ "SNOMEDCT:58262005" "MeSH:D007732" "MEDGEN:7233" + "DOID:5351" + "MEDGEN:275291" + "UMLS:C1518727" + "NCIT:C39986" "PMID:28924203" "MEDGEN:900126" "GARD:16640" @@ -57940,6 +57947,17 @@ "PMID:37794183" "PMID:37794183" "PMID:35995766" + "SCTID:254049009" + "OMIM:269250" + "Orphanet:3144" + "DOID:0050775" + "UMLS:C0432194" + "MESH:C536637" + "ICD9:756.9" + "icd11.foundation:584032448" + "GARD:169" + "MEDGEN:98475" + "PMID:37794183" "SCTID:66999008" "NANDO:2100123" "MONDO:0001741" @@ -57959,17 +57977,6 @@ "ICD10:E21" "MEDGEN:6967" "ICD9:252.00" - "SCTID:254049009" - "OMIM:269250" - "Orphanet:3144" - "DOID:0050775" - "UMLS:C0432194" - "MESH:C536637" - "ICD9:756.9" - "icd11.foundation:584032448" - "GARD:169" - "MEDGEN:98475" - "PMID:37794183" "NCIt:C13735" "NIF_Subcellular:sao1663586795" "Wikipedia:Cell_membrane" @@ -59000,14 +59007,14 @@ "DOID:0070454" "OMIM:620323" "PMID:26068415" - "DOID:6162" - "MEDGEN:272470" - "NCIT:C6545" - "UMLS:C1333007" "SNOMEDCT:70106000" "NCIt:C616" "KEGG:C01356" "MeSH:D008055" + "DOID:6162" + "MEDGEN:272470" + "NCIT:C6545" + "UMLS:C1333007" "GARD:21055" "UMLS:C5679778" "Orphanet:276585" @@ -59443,6 +59450,9 @@ "GARD:18981" "Orphanet:79226" "MEDGEN:1842986" + "MEDGEN:233147" + "UMLS:C1334571" + "NCIT:C6758" "OMIM:169400" "UMLS:C0030779" "SCTID:85559002" @@ -59456,9 +59466,6 @@ "MeSH:D010381" "MESH:D010381" "MedDRA:10029377" - "MEDGEN:233147" - "UMLS:C1334571" - "NCIT:C6758" "Orphanet:75840" "UMLS:C4551860" "NANDO:2200862" @@ -59811,9 +59818,6 @@ "SNOMEDCT:23560001" "MESH:D020817" "Orphanet:1162" - "OMIM:125370" - "UMLS:C0751781" - "ICD10:G11" "DOID:1967" "NCIT:C3158" "MEDGEN:9711" @@ -59833,7 +59837,9 @@ "UMLS:C0023269" "SCTID:443719001" "GARD:0006880" - "PMID:36168886" + "OMIM:125370" + "UMLS:C0751781" + "ICD10:G11" "DOID:4865" "MeSH:D014036" "MONDO:0005985" @@ -59841,6 +59847,7 @@ "UMLS:C0040361" "MEDGEN:21575" "PMID:25898920" + "PMID:36168886" "SCTID:717812000" "MEDGEN:395228" "Orphanet:1369" @@ -60032,6 +60039,7 @@ "MEDGEN:1682403" "UMLS:C5193134" "DOID:0081443" + "PMID:29875488" "CAS:10124-36-4" "Gmelin:8295" "NCIt:C45895" @@ -60044,7 +60052,6 @@ "OMIM:613672" "UMLS:C3150925" "GARD:10992" - "PMID:29875488" "Patent:US3053832" "DrugBank:DB00959" "Beilstein:2340300" @@ -60856,9 +60863,9 @@ "DOID:0080223" "MEDGEN:354561" "UMLS:C1721006" - "PMID:35347128" "SNOMEDCT:420478006" "MeSH:D016973" + "PMID:35347128" "MONDO:0006146" "EFO:1000175" "UMLS:C1707390" @@ -61348,13 +61355,13 @@ "RRID:CVCL_1629" "BTO:0003054" "NCIt:C117208" + "OMIM:610042" + "ICD10:Q04.8" "GARD:16157" "OMIM:616760" "MEDGEN:902275" "UMLS:C4225214" "DOID:0111574" - "OMIM:610042" - "ICD10:Q04.8" "SCTID:93151007" "ICD9:202.47" "UMLS:C1336064" @@ -61434,12 +61441,12 @@ "UMLS:C4707448" "MEDGEN:1642621" "ICD10:E72.3" + "Orphanet:320346" "MEDGEN:581442" "icd11.foundation:1764644031" "Orphanet:137867" "UMLS:C0393551" "GARD:19887" - "Orphanet:320346" "SNOMEDCT_US:205082007" "MEDDRA:10066242" "UMLS:C0240912" @@ -61536,12 +61543,12 @@ "GARD:13157" "OMIM:605074" "UMLS:C4023683" + "PMID:35347128" "OMIM:618154" "OMIM:616006" "UMLS:C0340834" "OMIM:235510" "ICD10:Q87.8" - "PMID:35347128" "PMID:29875488" "UMLS:C0154009" "SCTID:92308005" @@ -61585,10 +61592,10 @@ "UMLS:C3241919" "GARD:22049" "PMID:35668104" - "NCIt:C52814" - "MeSH:D010543" "RRID:CVCL_C466" "BTO:0006092" + "NCIt:C52814" + "MeSH:D010543" "PMID:33634981" "MESH:D009234" "MeSH:D009234" @@ -61840,15 +61847,15 @@ "Orphanet:263355" "PMID:29875488" "PMID:35347128" + "UMLS:C1264040" + "OMIM:613554" + "MeSH:D056728" + "ICD10:D68.0" "DOID:0081003" "OMIM:616858" "UMLS:C4225179" "GARD:16470" "MEDGEN:908796" - "UMLS:C1264040" - "OMIM:613554" - "MeSH:D056728" - "ICD10:D68.0" "MEDGEN:318935" "UMLS:C1833683" "OMIMPS:167030" @@ -61921,9 +61928,6 @@ "MEDGEN:462815" "UMLS:C3151465" "OMIM:614024" - "PO:0020031" - "MAT:0000415" - "BTO:0001152" "SNOMEDCT:85005007" "DOID:9505" "NCIt:C34445" @@ -61946,6 +61950,9 @@ "MedDRA:10007177" "ICD9:304.3" "MedDRA:10007179" + "PO:0020031" + "MAT:0000415" + "BTO:0001152" "MO:859" "MEDGEN:384006" "GARD:16639" @@ -62011,11 +62018,11 @@ "UMLS:C1832592" "OMIM:601220" "PMID:35347128" - "PMID:35347128" "ICD10:E70.3" "OMIM:614075" "OMIM:614074" "OMIM:614072" + "PMID:35347128" "KEGG:C05145" "Beilstein:1720958" "PMID:18299183" @@ -62999,13 +63006,13 @@ "DOID:0111538" "ZFA:0000972" "PMID:29158487" - "ICD10:Q82.4" - "OMIM:112300" "UMLS:C1306229" "OMIM:615402" "OMIM:612715" "OMIM:127500" "ICD10:L81.8" + "ICD10:Q82.4" + "OMIM:112300" "MetaCyc:Vitamin-A" "SNOMEDCT:82622003" "Wikipedia:Vitamin_A" @@ -63168,8 +63175,8 @@ "BTO:0004688" "EMAPA:16198" "VHOG:0000275" - "ZFA:0000107" "XAO:0000179" + "ZFA:0000107" "MA:0000261" "AAO:0010340" "TAO:0000107" @@ -63369,10 +63376,10 @@ "OMIM:151630" "SCTID:722034006" "GARD:3440" - "Medgen:C3887501" - "OMIM:608709" "NCIt:C15222" "MeSH:D004032" + "Medgen:C3887501" + "OMIM:608709" "PMID:25953818" "FBdv:00005349" "Wikipedia:Pupa" @@ -63637,7 +63644,6 @@ "UMLS:C0085580" "MESH:D000075222" "Orphanet:243761" - "ICD10:Q93.5" "OMIM:100800" "NANDO:1200877" "MESH:D000130" @@ -63653,6 +63659,7 @@ "GARD:8173" "NANDO:2201009" "NORD:711" + "ICD10:Q93.5" "PMID:29875488" "PMID:29875488" "NCIt:C53654" @@ -64325,6 +64332,7 @@ "MESH:D002205" "SCTID:398640008" "MedDRA:10065917" + "PMID:29875488" "EV:0200009" "ncithesaurus:Beta_Cell" "Wikipedia:Pancreatic_b_cell" @@ -64335,7 +64343,6 @@ "BTO:0000783" "FMA:70586" "NCIt:C32199" - "PMID:29875488" "UMLS:C0031117" "SNOMEDCT_US:42658009" "SNOMEDCT_US:302226006" @@ -64383,13 +64390,13 @@ "MedDRA:10035618" "UMLS:C0032231" "PMID:31189108" + "UMLS:C0268251" + "OMIM:231000" + "ICD10:E75.2" "BFO:0000020" "SNOMEDCT:255561001" "NCIt:C25232" "MAT:0000490" - "UMLS:C0268251" - "OMIM:231000" - "ICD10:E75.2" "PMID:29875488" "PMID:29875488" "KNApSAcK:C00000853" @@ -64660,13 +64667,6 @@ "PMID:37794183" "OMIM:610543" "ICD10:Q87.2" - "EFO:1000294" - "SCTID:427685000" - "MONDO:0006244" - "DOID:0060079" - "NCIT:C53556" - "MEDGEN:743175" - "UMLS:C1960398" "PMID:23823483" "PMID:37794183" "MIAA:0000168" @@ -64679,6 +64679,13 @@ "Wikipedia:Spermatheca" "WBbt:0005319" "NCIt:C37364" + "EFO:1000294" + "SCTID:427685000" + "MONDO:0006244" + "DOID:0060079" + "NCIT:C53556" + "MEDGEN:743175" + "UMLS:C1960398" "PMID:28878392" "UMLS:C1510455" "Orphanet:946" @@ -64872,8 +64879,8 @@ "NIFSTD:birnlex_1581" "ZFA:0001282" "BTO:0000040" - "PMID:31551469" "ZFA:0001334" + "PMID:31551469" "DOID:0070328" "Orphanet:210159" "GARD:6608" @@ -65065,14 +65072,14 @@ "DOID:12935" "UMLS:C0007192" "NCIt:C53653" - "Orphanet:370068" - "UMLS:C1739111" "GARD:15240" "OMIM:273800" "DOID:2219" "SCTID:32942005" "MESH:D013915" "NCIT:C61249" + "Orphanet:370068" + "UMLS:C1739111" "MONDO:0005386" "MESH:D058729" "MedDRA:10067825" @@ -65657,16 +65664,6 @@ "UMLS:C1336749" "MEDGEN:234429" "EFO:1000587" - "UMLS:C0346017" - "NCIT:C4471" - "SCTID:254711000" - "DOID:4871" - "MEDGEN:91071" - "PMID:37794183" - "OMIM:608812" - "UMLS:C1837315" - "MEDGEN:324734" - "FBbt:00005610" "ICD10:S75" "ICD10:T13" "ICD10:S80" @@ -65679,6 +65676,16 @@ "MedDRA:10054965" "ICD10:S84" "ICD10:S79" + "UMLS:C0346017" + "NCIT:C4471" + "SCTID:254711000" + "DOID:4871" + "MEDGEN:91071" + "PMID:37794183" + "OMIM:608812" + "UMLS:C1837315" + "MEDGEN:324734" + "FBbt:00005610" "UMLS:C0524662" "MESH:D009293" "MONDO:0005530" @@ -65812,7 +65819,6 @@ "UMLS:C0149603" "ICD10:E85.0" "PMID:37794183" - "NCIt:C6890" "MESH:C567466" "Orphanet:163937" "UMLS:C2677903" @@ -65820,6 +65826,7 @@ "MEDGEN:437070" "DOID:0060807" "OMIM:300749" + "NCIt:C6890" "MESH:D017074" "icd11.foundation:1908371517" "MedDRA:10021449" @@ -65975,9 +65982,9 @@ "Orphanet:52056" "MEDGEN:324890" "SCTID:719843001" + "Orphanet:98718" "PMID:37794183" "UMLS:C1859391" - "Orphanet:98718" "CSP:2049-9000" "DOID:0060054" "NCIT:C27033" @@ -66961,13 +66968,13 @@ "NCIT:C12408" "UMLS:C0042993" "ICD10:N46" + "PMID:32641083" "Orphanet:79376" "UMLS:C0162835" "MedDRA:10040868" "HP:0001010" "MEDGEN:102477" "MESH:D017496" - "PMID:32641083" "PMID:30104601" "PMID:35347128" "MEDGEN:64623" @@ -67309,12 +67316,12 @@ "Orphanet:481662" "UMLS:C5688224" "MEDGEN:1807766" - "ICD10:G11" - "KEGG COMPOUND:C18584" "DOID:5215" "MESH:D004810" "MONDO:0005750" "MeSH:D004810" + "KEGG COMPOUND:C18584" + "ICD10:G11" "OMIM:613684" "ICD10:Q87.2" "Wikipedia:Ploidy" @@ -67796,6 +67803,10 @@ "EMAPA:16640" "Wikipedia:Prosencephalon" "EHDAA:2643" + "UMLS:C2936859" + "ICD10:Q87.8" + "MeSH:C536108" + "OMIM:310465" "PMID:22177955" "PMID:22174792" "CAS:74772-77-3" @@ -67838,10 +67849,6 @@ "PMID:21354099" "SNOMEDCT:63369000" "FMA:84198" - "UMLS:C2936859" - "ICD10:Q87.8" - "MeSH:C536108" - "OMIM:310465" "OMIM:607584" "ICD10:G11.4" "PMID:35347128" @@ -68057,11 +68064,11 @@ "DOID:4910" "MEDGEN:234461" "UMLS:C1336885" - "PMID:26998518" "DOID:0111991" "MEDGEN:1673905" "OMIM:618459" "UMLS:C5193109" + "PMID:26998518" "PMID:34610981" "Orphanet:399983" "PMID:37794183" @@ -68150,6 +68157,7 @@ "BTO:0000530" "MedGen:CN221288" "MeSH:D049288" + "Orphanet:35099" "NCIT:C3414" "Orphanet:100087" "GARD:19762" @@ -68163,7 +68171,6 @@ "ONCOTREE:THYROID" "DOID:2891" "NCIt:C3414" - "Orphanet:35099" "Orphanet:98720" "PMID:24816252" "SNOMEDCT:26716007" @@ -68204,6 +68211,9 @@ "KEGG:D05045" "PMID:31630007" "PMID:33568043" + "ICD10:Q87.8" + "MeSH:C538112" + "UMLS:C2931736" "EV:0100042" "EHDAA:2205" "AAO:0000275" @@ -68214,9 +68224,6 @@ "EMAPA:16728" "BTO:0000763" "MA:0000415" - "ICD10:Q87.8" - "MeSH:C538112" - "UMLS:C2931736" "SCTID:92093000" "MEDGEN:91050" "UMLS:C0345670" @@ -68377,11 +68384,11 @@ "GARD:7122" "MEDGEN:7764" "OMIM:254200" - "PMID:23823483" "MEDGEN:1631585" "MESH:D000080888" "UMLS:C4553954" "Orphanet:211053" + "PMID:23823483" "OMIM:191482" "MEDGEN:348658" "Orphanet:1264" @@ -68690,9 +68697,6 @@ "MedDRA:10001926" "ICD10:Q73.0" "PMID:37794183" - "OMIM:614850" - "UMLS:C3553869" - "MEDGEN:766783" "ICDO:9702/3" "GARD:21252" "MONDO:0017603" @@ -68702,6 +68706,9 @@ "UMLS:C1332078" "ICD10:C84.7" "MEDGEN:272266" + "OMIM:614850" + "UMLS:C3553869" + "MEDGEN:766783" "ICD9:117.9" "DOID:0050133" "MEDGEN:755998" @@ -68985,7 +68992,6 @@ "NCIT:C3644" "ICD10CM:D09.0" "OMIM:618333" - "SCTID:717731002" "NCIT:C6381" "DOID:4301" "icd11.foundation:247568702" @@ -68993,6 +68999,7 @@ "GARD:22006" "Orphanet:494451" "UMLS:C1336977" + "SCTID:717731002" "PMID:35347128" "PMID:29875488" "PMID:35347128" @@ -69035,6 +69042,10 @@ "PMID:37794183" "PMID:29747637" "PMID:29875488" + "UMLS:C1112474" + "MEDGEN:207270" + "NCIT:C6762" + "DOID:7134" "MESH:C562907" "GARD:10363" "UMLS:C0406443" @@ -69045,10 +69056,6 @@ "DOID:0080088" "OMIM:161050" "Orphanet:79153" - "UMLS:C1112474" - "MEDGEN:207270" - "NCIT:C6762" - "DOID:7134" "PMID:37794183" "PMID:25762552" "PMID:37794183" @@ -69079,18 +69086,18 @@ "MEDGEN:41339" "ICD9:237.0" "BTO:0001026" - "SNOMEDCT:41898006" - "FMA:81100" - "NCIt:C12521" - "CALOHA:TS-0290" - "BTO:0000424" - "PMID:28240269" "OMIM:300635" "MedDRA:10068348" "UMLS:C0549463" "ICD10:D82.3" "MeSH:D008232" "OMIM:308240" + "SNOMEDCT:41898006" + "FMA:81100" + "NCIt:C12521" + "CALOHA:TS-0290" + "BTO:0000424" + "PMID:28240269" "SCTID:93132001" "GARD:2026" "DOID:0090032" @@ -69950,9 +69957,9 @@ "TAO:0005061" "EMAPA:32748" "EFO:0003088" + "NCIt:C6290" "TGEMO:00112" "MGI:2661783" - "NCIt:C6290" "RRID:CVCL_0E00" "NCIT:C5718" "DOID:7235" @@ -70022,9 +70029,9 @@ "NCIt:C3372" "Orphanet:399994" "PMID:29875488" - "PMID:31046077" "SNOMEDCT:16208003" "PMID:37794183" + "PMID:31046077" "UMLS:C0496874" "NCIT:C8612" "DOID:0060117" @@ -70074,6 +70081,16 @@ "icd11.foundation:1548743622" "MONDO:0005832" "MeSH:D008205" + "NCIt:C37971" + "SNOMEDCT:302870006" + "MedDRA:10020870" + "UMLS:C0813230" + "HP:0002155" + "SCTID:302870006" + "MeSH:D015228" + "MONDO:0005347" + "MESH:D015228" + "MEDGEN:167238" "SCTID:181322008" "EFO:0004231" "FMA:22689" @@ -70085,16 +70102,6 @@ "galen:BrachialArtery" "AAO:0010504" "NCIT:C12681" - "NCIt:C37971" - "SNOMEDCT:302870006" - "MedDRA:10020870" - "UMLS:C0813230" - "HP:0002155" - "SCTID:302870006" - "MeSH:D015228" - "MONDO:0005347" - "MESH:D015228" - "MEDGEN:167238" "OMIM:311510" "UMLS:C0796195" "MEDGEN:208674" @@ -70388,6 +70395,7 @@ "MeSH:C536861" "ICD10:G11.4" "PMID:28240269" + "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "NORD:1258" "NCIT:C98949" "DOID:4626" @@ -70399,7 +70407,6 @@ "GARD:6681" "icd11.foundation:1963574608" "SCTID:30023002" - "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "PMID:37794183" "MEDGEN:1842372" "GARD:20683" @@ -70434,12 +70441,6 @@ "OMIM:619827" "UMLS:C5676961" "MEDGEN:1808159" - "ZFA:0000254" - "Orphanet:98041" - "DOID:0050132" - "SCTID:95544006" - "UMLS:C0521604" - "MEDGEN:636702" "ICD9:382.9" "MeSH:D010033" "HP:0000388" @@ -70454,6 +70455,12 @@ "UMLS:C0029882" "MONDO:0005441" "MedDRA:10033078" + "ZFA:0000254" + "Orphanet:98041" + "DOID:0050132" + "SCTID:95544006" + "UMLS:C0521604" + "MEDGEN:636702" "DOID:8352" "UMLS:C1334560" "MEDGEN:235290" @@ -70714,12 +70721,6 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -70728,6 +70729,12 @@ "icd11.foundation:343459534" "MESH:C562710" "UMLS:C0342278" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -71250,8 +71257,8 @@ "DOID:3495" "Orphanet:79378" "ZFA:0001422" - "PMID:24816252" "PMID:29500382" + "PMID:24816252" "PMID:27462443" "MESH:C563290" "UMLS:C1832111" @@ -71647,6 +71654,9 @@ "OMIM:617743" "OMIM:616780" "ICD10:N97.8" + "SNOMEDCT:72567007" + "MeSH:D050643" + "PMID:37794183" "SCTID:765191009" "MEDGEN:78764" "MESH:C562701" @@ -71656,9 +71666,6 @@ "UMLS:C0271257" "Orphanet:99179" "OMIM:228990" - "SNOMEDCT:72567007" - "MeSH:D050643" - "PMID:37794183" "MEDGEN:672856" "SCTID:92617001" "ICD9:230.7" @@ -71965,6 +71972,8 @@ "DOID:0070099" "GARD:17598" "OMIM:615312" + "OMIM:615681" + "ICD10:G11.4" "UMLS:C0751427" "MEDGEN:199653" "DOID:0080320" @@ -71978,8 +71987,6 @@ "UMLS:C2931835" "GARD:6710" "OMIM:239510" - "OMIM:615681" - "ICD10:G11.4" "PMID:29875488" "ICD10:L66.1" "CAS:1398-61-4" @@ -72021,11 +72028,11 @@ "MEDGEN:462296" "GARD:17180" "FBbt:00005519" - "OMIM:260540" - "ICD10:G23.1" "PMID:33907307" "PMID:37794183" "PMID:23823483" + "OMIM:260540" + "ICD10:G23.1" "ICD10:J31" "MEDGEN:19782" "DOID:4483" @@ -72183,7 +72190,6 @@ "DOID:0111828" "GARD:20665" "SNOMEDCT:64724000" - "ICD10:R94" "Wikipedia:Antibacterial" "UMLS:C1857278" "SNOMEDCT_US:253140003" @@ -72198,6 +72204,7 @@ "NCIT:C3468" "UMLS:C5551485" "SCTID:109977009" + "ICD10:R94" "ICD10:Q87.2" "PMID:37794183" "SCTID:362840007" @@ -72290,7 +72297,6 @@ "UMLS:C1708781" "MONDO:0006279" "SCTID:707460002" - "PMID:29875488" "SCTID:38993008" "OMIM:190320" "MESH:C536549" @@ -72309,6 +72315,7 @@ "GARD:1141" "UMLS:C0796123" "MEDGEN:163216" + "PMID:29875488" "MBA:382" "MESH:D056547" "FMA:74042" @@ -72804,14 +72811,13 @@ "UMLS:C3494489" "UMLS:C0032326" "SNOMEDCT_US:36118008" - "VHOG:0000107" "AAO:0011017" "EFO:0003647" "Wikipedia:Chordamesoderm" "TAO:0001204" "XAO:0000205" "ZFA:0001204" - "PMID:29875488" + "VHOG:0000107" "GARD:93" "icd11.foundation:415074833" "DOID:0050472" @@ -72829,6 +72835,7 @@ "MEDGEN:1799564" "OMIM:617022" "UMLS:C5568141" + "PMID:29875488" "PMID:37794183" "PMID:23823483" "UMLS:C0431285" @@ -72969,6 +72976,8 @@ "SNOMEDCT:72904005" "MeSH:D014210" "NCIt:C86825" + "SNOMEDCT:12368000" + "ICD10:K74.4" "UMLS:C0280329" "MEDGEN:83631" "DOID:7583" @@ -72992,8 +73001,6 @@ "MESH:C538175" "NCIT:C112831" "GARD:476" - "SNOMEDCT:12368000" - "ICD10:K74.4" "Orphanet:363528" "OMIM:615286" "DOID:0081099" @@ -73046,9 +73053,6 @@ "UMLS:C2931761" "MeSH:C538180" "MeSH:C538277" - "OMIM:619522" - "MEDGEN:1794194" - "UMLS:C5561984" "ICD9:757.39" "ICD10CM:Q82.2" "MESH:D001816" @@ -73064,15 +73068,18 @@ "NANDO:1200333" "NORD:863" "UMLS:C0005859" + "OMIM:619522" + "MEDGEN:1794194" + "UMLS:C5561984" "PMID:29875488" - "SNOMEDCT_US:430099007" - "UMLS:C1837658" "MedDRA:10052450" "ICD10:E72.2" "OMIM:311250" "MedDRA:10071107" "MeSH:D020163" "UMLS:C0268542" + "SNOMEDCT_US:430099007" + "UMLS:C1837658" "OMIM:242860" "OMIM:616910" "OMIM:614069" @@ -73179,7 +73186,6 @@ "DHBA:12667" "EMAPA:16290" "TAO:0001031" - "PMID:29875488" "SNOMEDCT:30767006" "MONDO:0006766" "DOID:4260" @@ -73188,6 +73194,7 @@ "MEDGEN:266930" "MeSH:D020235" "MedDRA:10070635" + "PMID:29875488" "OMIM:300471" "ICD10:Q87.8" "MedDRA:10007116" @@ -73220,10 +73227,10 @@ "OMIM:619184" "MEDGEN:1782253" "DOID:0112358" + "NIFSTD:birnlex_577" "MEDGEN:1824055" "OMIM:620185" "UMLS:C5774282" - "NIFSTD:birnlex_577" "MedDRA:10071719" "NORD:1768" "ICD9:759.89" @@ -73495,6 +73502,8 @@ "OMIM:306980" "MeSH:C538319" "ICD10:Q43.1" + "ICD10:G60.0" + "OMIM:607734" "DOID:136" "MONDO:0006488" "MEDGEN:275573" @@ -73507,8 +73516,6 @@ "UMLS:C0740372" "NCIT:C38162" "SCTID:449072004" - "ICD10:G60.0" - "OMIM:607734" "PMID:3017841" "BTO:0000773" "MESH:D008072" @@ -74174,10 +74181,10 @@ "SNOMEDCT:9424004" "MeSH:D018554" "PMID:35347128" - "PMID:24816252" "MEDGEN:2699" "UMLS:C0005944" "NCIT:C97045" + "PMID:24816252" "PMID:29500382" "PMID:21253498" "MEDGEN:592722" @@ -74403,13 +74410,13 @@ "NCIT:C3328" "MedDRA:10020907" "HP:0002149" - "PMID:24816252" "GARD:15490" "SCTID:609581006" "UMLS:C1864623" "MESH:C566432" "OMIM:610582" "MEDGEN:351177" + "PMID:24816252" "CALOHA:TS-2080" "BTO:0004685" "AAO:0011078" @@ -74597,11 +74604,11 @@ "PMID:17547694" "NCIt:C68347" "PMID:23823483" - "PMID:37794183" "DOID:6903" "NCIT:C35690" "MEDGEN:1788822" "UMLS:C0730306" + "PMID:37794183" "ICD10:Q93.5" "SNOMEDCT:21327008" "UMLS:C4280642" @@ -74794,12 +74801,12 @@ "MEDGEN:400144" "PMID:33634981" "PMID:35347128" - "PMID:29875488" "NCIT:C114666" "SCTID:87696004" "UMLS:C0085692" "MEDGEN:508360" "DOID:0050859" + "PMID:29875488" "UMLS:C0006271" "SCTID:4120002" "NCIT:C39658" @@ -74833,6 +74840,7 @@ "UMLS:C4329735" "PMID:29875488" "Beilstein:9537192" + "NCIt:C4332" "MEDGEN:322257" "Orphanet:2792" "MESH:C563481" @@ -74840,7 +74848,6 @@ "UMLS:C1833691" "GARD:4169" "OMIMPS:166780" - "NCIt:C4332" "PMID:36168886" "ICD9:363.9" "UMLS:C4025836" @@ -75797,7 +75804,6 @@ "UMLS:C4749850" "Orphanet:238569" "NCIt:C15644" - "PMID:26068415" "DrugBank:DB01242" "KEGG DRUG:D00811" "NCIt:C47458" @@ -75811,6 +75817,7 @@ "ChEMBL:774661" "CAS:17321-77-6" "MedDRA:10015943" + "PMID:26068415" "PMID:28627999" "Orphanet:1716" "GARD:18742" @@ -76168,6 +76175,9 @@ "MEDGEN:1807460" "OMIM:619762" "PMID:37794183" + "UMLS:C0263746" + "MONDO:0006632" + "MEDGEN:472992" "SCTID:33313004" "MEDGEN:57861" "UMLS:C0158761" @@ -76178,9 +76188,6 @@ "icd11.foundation:1098526181" "Orphanet:3269" "HP:0002974" - "UMLS:C0263746" - "MONDO:0006632" - "MEDGEN:472992" "UMLS:C4022387" "Orphanet:577" "NANDO:2200568" @@ -76265,8 +76272,8 @@ "CAS:4026-18-0" "PMID:35347128" "PMID:28240269" - "PMID:34814699" "OMIM:209010" + "PMID:34814699" "SCTID:36444000" "MESH:D056806" "NCIT:C84785" @@ -76449,9 +76456,9 @@ "ICD10:E85.1" "DOID:0050637" "PMID:37794183" + "PMID:35347128" "UMLS:C0024437" "SNOMEDCT_US:422338006" - "PMID:35347128" "PMID:35347128" "ZFA:0001270" "MEDGEN:75840" @@ -76750,12 +76757,12 @@ "NCIt:C86789" "MeSH:D018502" "SNOMEDCT:12447002" + "SNOMEDCT:248362003" + "NCIt:C71258" "UMLS:C0406586" "ICD10:E34.8" "MeSH:C536423" "OMIM:264090" - "SNOMEDCT:248362003" - "NCIt:C71258" "ICD10:Q87.5" "DOID:1781" "MEDGEN:2869" @@ -77486,15 +77493,15 @@ "DOID:0110652" "PMID:35668104" "PMID:29875488" - "PMID:33634981" "OMIM:608406" "ICD10:Q87.8" + "PMID:33634981" "MEDGEN:482569" "UMLS:C3280939" "OMIM:614474" "GAID:676" - "FMA:224850" "MESH:D017397" + "FMA:224850" "BTO:0002807" "BAMS:FrA" "EMAPA:35356" @@ -77656,7 +77663,6 @@ "MEDGEN:1824060" "UMLS:C5774287" "PMID:35347128" - "PMID:24816252" "ICD10CM:G47.2" "NCIT:C95071" "MESH:D020178" @@ -77673,6 +77679,7 @@ "GARD:10123" "MESH:C535356" "icd11.foundation:1936121929" + "PMID:24816252" "PMID:26458175" "UMLS:C0751436" "SCTID:68528007" @@ -77799,9 +77806,9 @@ "OMIM:300484" "SCTID:722106001" "PMID:26068415" + "FBbt:00005629" "SNOMEDCT:122445005" "NCIt:C74742" - "FBbt:00005629" "BTO:0002615" "ZEA:0015061" "MAT:0000222" @@ -77836,9 +77843,6 @@ "UMLS:C3151444" "Wikipedia:Hearing_(sense)" "PMID:33634981" - "RRID:CVCL_2659" - "CLO:0008209" - "BTO:0004859" "UMLS:C2700007" "Orphanet:289661" "icd11.foundation:407807101" @@ -77847,6 +77851,9 @@ "SCTID:716788007" "MEDGEN:397690" "NCIT:C80281" + "RRID:CVCL_2659" + "CLO:0008209" + "BTO:0004859" "UMLS:C0426816" "SNOMEDCT_US:249695006" "ICD10:Q71.8" @@ -78338,6 +78345,8 @@ "OMIM:616233" "OMIM:608895" "ICD10:G60.0" + "MONDO:0005163" + "UMLS:C1855677" "UMLS:C0024224" "MESH:D008204" "EFO:1000339" @@ -78348,8 +78357,6 @@ "MONDO:0006282" "MEDGEN:6154" "SCTID:403986008" - "MONDO:0005163" - "UMLS:C1855677" "PMID:29875488" "Reactome:R-HSA-71825" "Reactome:R-HSA-3262512" @@ -78399,9 +78406,9 @@ "MEDGEN:322520" "UMLS:C1834880" "OMIM:157151" + "PMID:29875488" "UMLS:C0497327" "SNOMEDCT_US:52448006" - "PMID:29875488" "Wikipedia:Steroid_metabolisms#Steroid_biosynthesis" "Orphanet:68378" "UM-BBD_pathwayID:met" @@ -78548,10 +78555,10 @@ "PMID:21177962" "NCIt:C111072" "PMID:25262759" + "PMID:29682794" "UMLS:C1504438" "MEDGEN:760198" "ZFA:0000063" - "PMID:29682794" "GARD:3854" "Orphanet:1877" "MeSH:D041781" @@ -79236,10 +79243,6 @@ "SNOMEDCT:982172491000087106" "PMID:29875488" "PMID:37794183" - "UMLS:C5190512" - "Orphanet:276422" - "GARD:21052" - "MEDGEN:1682781" "DOID:0111765" "SCTID:718128009" "GARD:1096" @@ -79249,6 +79252,10 @@ "OMIM:314400" "Orphanet:1864" "MEDGEN:78083" + "UMLS:C5190512" + "Orphanet:276422" + "GARD:21052" + "MEDGEN:1682781" "UMLS:C0428977" "SNOMEDCT_US:48867003" "Reactome:R-HSA-548831" @@ -79707,9 +79714,6 @@ "MEDGEN:1713823" "UMLS:C5394296" "GARD:16388" - "OMIM:256500" - "MedDRA:10062909" - "ICD10:Q80.3" "MEDGEN:7292" "SCTID:26726000" "MedDRA:10035718" @@ -79725,6 +79729,9 @@ "Orphanet:549" "icd11.foundation:424434722" "MedDRA:10061266" + "OMIM:256500" + "MedDRA:10062909" + "ICD10:Q80.3" "UMLS:C5190839" "Orphanet:646139" "icd11.foundation:607086753" @@ -79902,6 +79909,7 @@ "NCIT:C37312" "MEDGEN:419905" "PMID:24816252" + "PMID:29875488" "SCTID:719136005" "GARD:9947" "Orphanet:137831" @@ -79910,18 +79918,17 @@ "UMLS:C1845366" "DOID:0080311" "MESH:C537456" - "PMID:29875488" + "OMIM:618608" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" - "OMIM:618608" + "PMID:29535761" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" "MEDGEN:271382" - "PMID:29535761" "BTO:0001072" "NCIt:C12806" "PMID:35668104" @@ -79930,11 +79937,11 @@ "SNOMEDCT:440978009" "SNOMEDCT:71886006" "MeSH:D001233" + "Orphanet:182079" "OMIM:604292" "ICD10:Q82.4" "OMIM:129900" "UMLS:C0406704" - "Orphanet:182079" "Wikipedia:Sasang_typology" "PMID:25888059" "SNOMEDCT_US:2073000" @@ -80072,8 +80079,6 @@ "ICD9:100.9" "OMIM:618571" "UMLS:C1843274" - "OMIM:614831" - "ICD10:G11.1" "PMCID:PMC9193570" "PMID:19804861" "PMID:25108762" @@ -80110,6 +80115,8 @@ "HMDB:HMDB0002994" "PMID:17336832" "PMID:35289142" + "OMIM:614831" + "ICD10:G11.1" "DOID:0050936" "UMLS:C1257877" "NCIT:C48576" @@ -80244,9 +80251,9 @@ "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03066&Product=CC" "UMLS:C3278923" "PMID:29875488" + "PMID:29875488" "NCIt:C66929" "MedDRA:10033109" - "PMID:29875488" "OMIM:617557" "UMLS:C4479652" "GARD:17947" @@ -80264,10 +80271,6 @@ "UMLS:C0014038" "SNOMEDCT_US:45170000" "NCIt:C105555" - "MedDRA:10057078" - "DOID:3876" - "MedDRA:10024233" - "MeSH:D003112" "UMLS:C5779613" "OMIMPS:617468" "DOID:0080954" @@ -80278,6 +80281,10 @@ "GARD:777" "MEDGEN:1830310" "PMID:28240269" + "MedDRA:10057078" + "DOID:3876" + "MedDRA:10024233" + "MeSH:D003112" "MEDGEN:4928" "SCTID:405950009" "HP:0011919" @@ -80429,10 +80436,10 @@ "MedDRA:10047145" "ICD10CM:J30.0" "PMID:37794183" + "PMID:36168886" "UMLS:C0021432" "NCIT:C3139" "MEDGEN:5803" - "PMID:36168886" "PMID:28240269" "ICD10:E70.3" "OMIM:214500" @@ -81042,8 +81049,8 @@ "icd11.foundation:535283437" "NCIt:C3285" "SCTID:4210003" - "MedDRA:10030043" "MESH:D009798" + "MedDRA:10030043" "DOID:9282" "MONDO:0006875" "UMLS:C0028840" @@ -82133,13 +82140,13 @@ "SNOMEDCT:50731006" "ICD10:Z41" "NCIt:C79751" + "PMID:35697867" "MEDGEN:1811493" "OMIM:619742" "UMLS:C5676914" "EFO:0003450" "TAO:0001212" "ZFA:0001212" - "PMID:35697867" "PMID:29535761" "OMIM:618622" "NCIT:C176263" @@ -82374,11 +82381,11 @@ "UMLS:C0393768" "MEDGEN:581569" "SCTID:192004002" + "PMID:24816252" "UMLS:C1334450" "MEDGEN:232712" "DOID:5764" "NCIT:C5668" - "PMID:24816252" "PMID:26960407" "CiteXplore:8884229" "PMID:8884229" @@ -82671,9 +82678,9 @@ "MEDDRA:10030136" "UMLS:C0014848" "SNOMEDCT_US:45564002" + "NCIt:C66801" "PMID:36168886" "PMID:28240269" - "NCIt:C66801" "UMLS:C0796176" "OMIM:601559" "ICD10:Q78.8" @@ -83063,12 +83070,12 @@ "Orphanet:53693" "GARD:1" "SCTID:703388005" - "PMID:35347128" "UMLS:C5680893" "icd11.foundation:801729371" "MEDGEN:1843186" "GARD:20560" "Orphanet:226292" + "PMID:35347128" "EHDAA:8279" "Wikipedia:Biceps_brachii_muscle" "UMLS:C0559499" @@ -83151,9 +83158,9 @@ "MAT:0000352" "BTO:0001804" "PMID:29875488" - "SNOMEDCT:286734003" "BTO:0005220" "RRID:CVCL_9555" + "SNOMEDCT:286734003" "PMID:33634981" "DOID:0080716" "GARD:17820" @@ -83250,7 +83257,6 @@ "CLO:0009251" "RRID:CVCL_0553" "PMID:35347128" - "ICD10:Q87.8" "PMID:19347970" "icd11.foundation:2057245946" "SCTID:80651009" @@ -83265,6 +83271,7 @@ "MedDRA:10054935" "DOID:8461" "OMIM:304050" + "ICD10:Q87.8" "UMLS:C4025879" "VHOG:0000369" "MA:0000074" @@ -83279,6 +83286,7 @@ "galen:LeftAtrium" "NCIT:C12869" "SCTID:244387002" + "PMID:29875488" "MEDGEN:414346" "OMIM:613094" "DOID:0060836" @@ -83288,7 +83296,6 @@ "FBbt:00004482" "EFO:0001927" "BTO:0004711" - "PMID:29875488" "NANDO:2200251" "OMIM:605067" "icd11.foundation:845891723" @@ -83570,8 +83577,8 @@ "RRID:CVCL_C528" "BTO:0006010" "PMID:28240269" - "PMID:28240269" "OMIM:154000" + "PMID:28240269" "UMLS:C0028850" "MONDO:0001584" "SCTID:45030009" @@ -83640,12 +83647,12 @@ "MEDGEN:234305" "PMID:30475886" "PMID:29875488" - "PMID:36168886" - "PMID:28011148" - "Orphanet:307995" "OMIM:601370" "UMLS:C1832424" "ICD10:Q04.2" + "PMID:36168886" + "PMID:28011148" + "Orphanet:307995" "NCIt:C139267" "MONDO:0006758" "MESH:D014384" @@ -84112,13 +84119,13 @@ "BTO:0000567" "RRID:CVCL_0030" "CLO:0003684" - "PMID:29875488" "icd11.foundation:2087939516" "Orphanet:156212" "MEDGEN:234456" "NCIT:C6155" "DOID:4938" "UMLS:C1336873" + "PMID:29875488" "MAT:0000357" "BTO:0000039" "PO:0020123" @@ -84335,8 +84342,8 @@ "KEGG:D08061" "PMID:21274596" "PMID:24389665" - "PMID:37794183" "PMID:30053915" + "PMID:37794183" "icd11.foundation:1831346835" "icd11.foundation:585339631" "ICD9:289.89" @@ -84557,8 +84564,8 @@ "OMIMPS:614594" "MedDRA:10068842" "MONDO:0006405" - "NCIT:C35703" "MEDGEN:234786" + "NCIT:C35703" "EFO:1000519" "UMLS:C1335982" "UMLS:C1853738" @@ -84677,13 +84684,13 @@ "MeSH:C535961" "UMLS:C0079299" "PMID:35347128" - "PMID:35347128" "MEDGEN:98371" "MESH:D020370" "MONDO:0005416" "ICD10:M17" "UMLS:C0409959" "MeSH:D020370" + "PMID:35347128" "PMID:25262759" "PMID:21177962" "PMID:32675219" @@ -84781,9 +84788,9 @@ "UMLS:C2931452" "OMIM:235740" "ICD10:Q43.1" - "PMID:24816252" "SNOMEDCT:409969007" "ZFA:0009188" + "PMID:24816252" "PMID:31413141" "Orphanet:435934" "OMIM:617395" @@ -85478,8 +85485,8 @@ "MEDGEN:322759" "OMIM:615953" "UMLS:C1835808" - "PMID:22309095" "PMID:35347128" + "PMID:22309095" "PMID:24816252" "GARD:13423" "UMLS:C5567524" @@ -86079,12 +86086,12 @@ "MESH:D005158" "DOID:13934" "SCTID:280816001" + "PMID:35995766" "PMID:15896368" "KEGG:C15801" "KNApSAcK:C00007278" "PMID:17138693" "Beilstein:7382071" - "PMID:35995766" "MEDGEN:930808" "UMLS:C4305139" "GARD:19063" @@ -86344,9 +86351,6 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -86354,6 +86358,9 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -86556,6 +86563,7 @@ "ICD10:Q87.0" "PMID:29875488" "PMID:37794183" + "OMIM:608615" "OMIMPS:134600" "DOID:11573" "NCIT:C82994" @@ -86572,7 +86580,6 @@ "MeSH:D008088" "MedDRA:10024641" "UMLS:C0023860" - "OMIM:608615" "UMLS:C1854912" "MEDGEN:770987" "EFO:0000281" @@ -86680,10 +86687,10 @@ "UMLS:C1880931" "ICD9:578" "SNOMEDCT_US:74474003" - "PMID:36210801" "UMLS:C1860118" "OMIM:201180" "ICD10:Q75.1" + "PMID:36210801" "OMIM:618590" "PMID:29875488" "Orphanet:309130" @@ -86703,11 +86710,11 @@ "Orphanet:178557" "PMID:35347128" "PMID:29875488" + "OMIM:608154" + "ICD10:Q78.8" "UMLS:C0153474" "NCIT:C7487" "MEDGEN:56305" - "OMIM:608154" - "ICD10:Q78.8" "MEDGEN:347545" "UMLS:C1857780" "OMIM:610188" @@ -86804,16 +86811,17 @@ "GARD:21555" "UMLS:C4750858" "MEDGEN:1667690" + "ChemIDplus:67227-56-9 \"CAS Registry Number\"" "DrugBank:DB00800" "KEGG:D07946" "Patent:DE2751258" "Patent:DE2751258 \"Patent\"" "DrugBank:DB00800 \"DrugBank\"" "Wikipedia:Fenoldopam" - "SNOMEDCT:409138007" "Patent:US4197297" "Patent:US4197297 \"Patent\"" "Drug_Central:1153" + "SNOMEDCT:409138007" "KEGG COMPOUND:C07693 \"KEGG COMPOUND\"" "Wikipedia:Fenoldopam \"Wikipedia\"" "LINCS:LSM-1609" @@ -86822,7 +86830,6 @@ "SNOMEDCT:108590002" "NCIt:C61759" "CAS:67227-56-9" - "ChemIDplus:67227-56-9 \"CAS Registry Number\"" "MedDRA:100233350" "MESH:D007638" "SCTID:46152009" @@ -87476,9 +87483,9 @@ "DOID:0080240" "OMIM:300997" "UMLS:C4478379" + "PMID:29875488" "Orphanet:420733" "OMIM:615918" - "PMID:29875488" "MESH:C536900" "HGNC:11784" "UMLS:C2931365" @@ -87506,7 +87513,6 @@ "OMIM:612336" "MedDRA:10068370" "Orphanet:26349" - "PMID:29875488" "GARD:15088" "UMLS:C1834671" "MEDGEN:320405" @@ -87515,6 +87521,7 @@ "NCIT:C172705" "DOID:0111193" "ICD10:S27" + "PMID:29875488" "PMID:24816252" "GARD:20110" "UMLS:C5191057" @@ -87745,7 +87752,6 @@ "Wikipedia:Venom" "BTO:0001439" "DOID:0081012" - "PMID:29875488" "icd11.foundation:897917531" "NCIT:C2981" "MONDO:0045057" @@ -87768,6 +87774,7 @@ "BTO:0001363" "MA:0002765" "SAEL:93" + "PMID:29875488" "NANDO:2200605" "Orphanet:425" "RRID:CVCL_6263" @@ -88037,8 +88044,8 @@ "ICDO:8551/3" "MEDGEN:224757" "DOID:7729" - "UMLS:C1266087" "NCIT:C5727" + "UMLS:C1266087" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02938&Product=CC" "UMLS:C0037011" "SNOMEDCT_US:45326000" @@ -88347,8 +88354,8 @@ "ICD10EXP:I68.0*" "ICD10EXP:E85.4+" "NCIT:C3000" - "MESH:D004428" "DOID:833" + "MESH:D004428" "SNOMEDCT:32691002" "MeSH:D020114" "PMID:31085678" @@ -88434,10 +88441,10 @@ "ZFA:0000020" "EMAPA:16042" "OMIM:618604" + "UMLS:C4023591" "OMIM:605432" "OMIM:616738" "ICD10:Q87.2" - "UMLS:C4023591" "PMID:29875488" "OMIMPS:179010" "MEDGEN:196010" @@ -88492,12 +88499,12 @@ "DOID:3317" "UMLS:C1333962" "PMID:28240269" - "OMIM:615960" "UMLS:C2931097" "OMIM:607634" "MeSH:C536056" "ICD10:Q78.2" "FMA:14121" + "OMIM:615960" "UMLS:C0154911" "ICD9:364.03" "Orphanet:279922" @@ -88713,8 +88720,8 @@ "TAO:0001410" "BTO:0004687" "ZFA:0001410" - "FMA:53074" "galen:Orbit" + "FMA:53074" "Wikipedia:Orbit_(anatomy)" "MESH:D009915" "NCIT:C12347" @@ -88726,6 +88733,8 @@ "CiteXplore:11872840 \"PubMed citation\"" "PMID:11872840" "PMID:37794183" + "Orphanet:271841" + "UMLS:CN202528" "MedDRA:10010652" "MESH:D014125" "GARD:18708" @@ -88765,8 +88774,6 @@ "OMIMPS:254780" "SCTID:230425004" "UMLS:C0751783" - "Orphanet:271841" - "UMLS:CN202528" "UMLS:C0151740" "MeSH:D019586" "NCIt:C84791" @@ -88785,9 +88792,9 @@ "MEDGEN:1639138" "UMLS:C4706257" "SCTID:763061004" - "PMID:29875488" "ZFA:0001359" "TAO:0001359" + "PMID:29875488" "PMID:35347128" "NCIT:C116006" "MESH:D014069" @@ -88828,14 +88835,14 @@ "Orphanet:2783" "MEDGEN:335932" "ICD10:Q87.8" - "UMLS:C0861861" - "DOID:5537" - "NCIT:C5777" - "MEDGEN:209017" "MeSH:C536017" "UMLS:C0220685" "OMIM:200610" "ICD10:Q77.0" + "UMLS:C0861861" + "DOID:5537" + "NCIT:C5777" + "MEDGEN:209017" "PMID:25934476" "MO:676" "MEDGEN:411554" @@ -89129,6 +89136,13 @@ "ICD9:098.35" "SCTID:76802005" "UMLS:C0153206" + "MEDGEN:436764" + "OMIM:612335" + "Orphanet:171617" + "DOID:0110789" + "MESH:C567349" + "UMLS:C2676732" + "GARD:17065" "MONDO:0003669" "HP:0100617" "Orphanet:842" @@ -89142,13 +89156,6 @@ "NCIT:C7328" "SCTID:255107005" "ICD9:186.9" - "MEDGEN:436764" - "OMIM:612335" - "Orphanet:171617" - "DOID:0110789" - "MESH:C567349" - "UMLS:C2676732" - "GARD:17065" "icd11.foundation:598200019" "HP:0001156" "MESH:D059327" @@ -89278,6 +89285,12 @@ "MESH:C562385" "UMLS:C0085576" "OMIM:206200" + "UMLS:C2931894" + "OMIM:252500" + "ICD10:E77.0" + "MedDRA:10072928" + "MeSH:C538602" + "UMLS:C0020725" "Orphanet:226" "OMIM:261630" "UMLS:C0268465" @@ -89287,12 +89300,6 @@ "GARD:4319" "icd11.foundation:1931239861" "SCTID:58256000" - "UMLS:C2931894" - "OMIM:252500" - "ICD10:E77.0" - "MedDRA:10072928" - "MeSH:C538602" - "UMLS:C0020725" "EFO:0005287" "MESH:D008228" "UMLS:C0024302" @@ -89725,7 +89732,6 @@ "SNOMEDCT:364075005" "MedDRA:10019299" "NCIt:C49677" - "PMID:37794183" "Orphanet:169110" "UMLS:C0398692" "icd11.foundation:960006636" @@ -89733,6 +89739,7 @@ "GARD:20111" "MEDGEN:98309" "SCTID:234539005" + "PMID:37794183" "OMIM:142409" "CASRN:67256-21-7" "MeSH:D017228" @@ -89767,6 +89774,8 @@ "ICDO:8140/3" "SCTID:443961001" "MEDGEN:122" + "NCIt:C64489" + "SNOMEDCT:397798009" "ZFS:0000032" "OMIM:611283" "NCIT:C129975" @@ -89775,8 +89784,6 @@ "GARD:10223" "Orphanet:79159" "UMLS:C1969809" - "NCIt:C64489" - "SNOMEDCT:397798009" "PMID:24816252" "GARD:17871" "MEDGEN:1798945" @@ -89818,8 +89825,8 @@ "NCIt:C86746" "ICD9:004.1" "PMID:24816252" - "PMID:24435020" "NCIt:C14138" + "PMID:24435020" "Orphanet:261483" "OMIM:300869" "GARD:17247" @@ -89895,6 +89902,14 @@ "ICD10:Q87.8" "OMIM:264480" "PMID:28240269" + "UMLS:C4518491" + "MEDGEN:1372547" + "SCTID:726341009" + "GARD:20844" + "Orphanet:262201" + "ZFA:0000711" + "SNOMEDCT_US:84445001" + "UMLS:C0162298" "MeSH:D005352" "NCIt:C84714" "MONDO:0006761" @@ -89908,14 +89923,6 @@ "NCIT:C84714" "Orphanet:336" "UMLS:C0016052" - "UMLS:C4518491" - "MEDGEN:1372547" - "SCTID:726341009" - "GARD:20844" - "Orphanet:262201" - "ZFA:0000711" - "SNOMEDCT_US:84445001" - "UMLS:C0162298" "Orphanet:261183" "GARD:10525" "OMIM:615656" @@ -90281,10 +90288,10 @@ "SCTID:181948009" "VSAO:0005013" "UMLS:C0041600" + "MESH:D014457" "GAID:188" - "EMAPA:19104" "AAO:0000789" - "MESH:D014457" + "EMAPA:19104" "Wikipedia:Ulna" "MA:0001358" "galen:Ulna" @@ -90448,10 +90455,10 @@ "NCIT:C4027" "SCTID:254898001" "MedGen:893379" - "PMID:33048379" "OMIM:609622" "OMIM:609621" "OMIM:609620" + "PMID:33048379" "OMIM:601543" "OMIM:615629" "OMIM:608645" @@ -90578,12 +90585,12 @@ "MEDGEN:934645" "UMLS:C4310678" "OMIM:617182" + "ICD10:Q96.2" + "ICD10:Q96.1" "MEDGEN:1386340" "DOID:3318" "NCIT:C38151" "UMLS:C4518194" - "ICD10:Q96.2" - "ICD10:Q96.1" "PMID:28240269" "PMID:29875488" "NCIt:C568" @@ -90698,7 +90705,6 @@ "PMID:29875488" "Orphanet:482072" "PMID:29875488" - "ICD10:Q87.8" "UMLS:C0796021" "MedDRA:10062600" "GARD:264" @@ -90708,6 +90714,7 @@ "MESH:C537038" "SCTID:721975004" "OMIM:226960" + "ICD10:Q87.8" "RRID:CVCL_E839" "SNOMEDCT:18414002" "PMID:16886665" @@ -91226,8 +91233,8 @@ "UMLS:C4024722" "UMLS:C0015503" "SNOMEDCT_US:37193007" - "ZFA:0000413" "GAID:368" + "ZFA:0000413" "BTO:0000534" "VHOG:0000397" "XAO:0003146" @@ -91386,6 +91393,11 @@ "NCIT:C7317" "PMID:37164013" "PMID:29875488" + "UMLS:C0010078" + "MEDGEN:40491" + "MeSH:D003333" + "DOID:2948" + "MONDO:0005718" "ZFS:0000027" "DrugBank:DB02656" "PMID:10638524" @@ -91403,11 +91415,6 @@ "KEGG:C15195" "PDBeChem:LY2" "PMID:24666011" - "UMLS:C0010078" - "MEDGEN:40491" - "MeSH:D003333" - "DOID:2948" - "MONDO:0005718" "PMID:23823483" "BTO:0001408" "PMID:29875488" @@ -91841,11 +91848,11 @@ "SCTID:128139000" "UMLS:C0154251" "MedDRA:10061227" - "PMID:28240269" "ICD10:Q87.0" "OMIM:183700" "UMLS:C1866741" "UMLS:C3489790" + "PMID:28240269" "KEGG:C06574" "Patent:US3157640" "Patent:US2985648" @@ -92251,10 +92258,10 @@ "PMID:37794183" "PMID:35347128" "ZFA:0000904" - "ZFS:0000030" "PMID:29875488" - "NCIt:C61015" + "ZFS:0000030" "PMID:35347128" + "NCIt:C61015" "OMIM:615360" "DOID:0110217" "GARD:15950" @@ -92552,11 +92559,11 @@ "NCIt:C35062" "icd11.foundation:1327645131" "MedDRA:10043097" - "PMID:29875488" "ONCOTREE:URCC" "EFO:1000603" "NCIT:C27892" "UMLS:C1336853" + "PMID:29875488" "PMID:9573679" "MEDGEN:777988" "MESH:C580174" @@ -92719,10 +92726,10 @@ "NCIT:C3416" "ICD10:C02" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02970&Product=CC" + "DOID:0060116" "MEDGEN:1778117" "UMLS:C5543623" "OMIM:619418" - "DOID:0060116" "SNOMEDCT:28539009" "PMID:28240269" "SCTID:11164009" @@ -92757,8 +92764,8 @@ "MAT:0000457" "BTO:0000227" "VHOG:0000293" - "PMID:29907492" "Orphanet:207104" + "PMID:29907492" "OMIM:308700" "ICD10CM:E23.0" "MEDGEN:295872" @@ -92784,6 +92791,19 @@ "icd11.foundation:1025202057" "GARD:12821" "UMLS:C5680451" + "UMLS:C0004045" + "MONDO:0006663" + "SNOMEDCT:28314004" + "NCIT:C116313" + "ICD9:768.9" + "DOID:11088" + "SCTID:28314004" + "GARD:19875" + "MEDGEN:2469" + "icd11.foundation:1281282034" + "MeSH:D001238" + "MESH:D001238" + "Orphanet:137577" "Orphanet:2394" "SCTID:29914000" "UMLS:C5574660" @@ -92798,19 +92818,6 @@ "Orphanet:31" "DOID:0081326" "GARD:617" - "UMLS:C0004045" - "MONDO:0006663" - "SNOMEDCT:28314004" - "NCIT:C116313" - "ICD9:768.9" - "DOID:11088" - "SCTID:28314004" - "GARD:19875" - "MEDGEN:2469" - "icd11.foundation:1281282034" - "MeSH:D001238" - "MESH:D001238" - "Orphanet:137577" "HP:0008711" "NCIT:C2897" "ICD9:600.0" @@ -93058,6 +93065,11 @@ "PMID:35347128" "ZFA:0000153" "PMID:35995766" + "ICD10:E75.2" + "UMLS:C1858991" + "UMLS:C2931489" + "OMIM:603896" + "MeSH:C537420" "UMLS:C1865639" "GARD:3396" "OMIM:602361" @@ -93068,11 +93080,6 @@ "ICD10CM:Q78.0" "Orphanet:2763" "PMID:37794183" - "ICD10:E75.2" - "UMLS:C1858991" - "UMLS:C2931489" - "OMIM:603896" - "MeSH:C537420" "MONDO:0005688" "icd11.foundation:1012026026" "SCTID:86500004" @@ -93086,9 +93093,6 @@ "UMLS:C1849333" "MESH:C564829" "MEDGEN:376565" - "MEDDRA:10034743" - "SNOMEDCT_US:205091006" - "UMLS:C0728829" "NANDO:1200814" "Orphanet:79473" "MEDGEN:58118" @@ -93102,7 +93106,9 @@ "DOID:4346" "SCTID:58275005" "OMIM:176200" - "PMID:35347128" + "MEDDRA:10034743" + "SNOMEDCT_US:205091006" + "UMLS:C0728829" "HMDB:HMDB0006547" "Beilstein:1712973" "Reaxys:1712973" @@ -93116,6 +93122,7 @@ "Patent:CA2827585" "PMID:24553695" "Patent:KR20130045846" + "PMID:35347128" "MEDGEN:233705" "NCIT:C5199" "UMLS:C1334753" @@ -93178,6 +93185,7 @@ "NCIt:C4778" "MedDRA:10056780" "MedDRA:10004336" + "OMIM:309583" "MedDRA:10064212" "MeSH:D057765" "MONDO:0005361" @@ -93196,7 +93204,6 @@ "MESH:D057765" "MeSH:D052198" "SNOMEDCT:23029008" - "OMIM:309583" "PMID:24816252" "PMID:31005972" "UMLS:C1333014" @@ -93267,16 +93274,16 @@ "NANDO:2100132" "UMLS:C0857899" "MESH:D006994" + "UMLS:C0393584" + "OMIM:215450" + "OMIM:118700" + "ICD10:G25.5" "MEDGEN:462056" "GARD:12640" "UMLS:C3150706" "OMIM:613456" "DOID:0081047" "Orphanet:306542" - "UMLS:C0393584" - "OMIM:215450" - "OMIM:118700" - "ICD10:G25.5" "PMID:37794183" "MEDGEN:324953" "OMIM:600419" @@ -93296,6 +93303,7 @@ "SCTID:88230002" "MEDGEN:538042" "UMLS:C0263661" + "PMID:33634981" "MESH:D014552" "DOID:0080784" "NCIt:C50791" @@ -93307,7 +93315,6 @@ "SNOMEDCT:68566005" "MeSH:D014552" "MONDO:0100338" - "PMID:33634981" "UMLS:C0206081" "NCIt:C113215" "MedDRA:10065597" @@ -93347,11 +93354,11 @@ "MEDGEN:1790509" "PMID:37164013" "PMID:29875488" + "PMID:34815255" "NCIT:C40277" "UMLS:C1519914" "MEDGEN:274378" "DOID:4117" - "PMID:34815255" "PMID:23823483" "MONDO:0005719" "MESH:D018352" @@ -93462,20 +93469,20 @@ "DOID:3750" "MEDGEN:234975" "NCIT:C6165" - "CLO:0008350" - "RRID:CVCL_0479" - "BTO:0001591" "MESH:D013280" "ICD10:K12" "DOID:9637" "ICD9:528.00" "MEDGEN:52511" "ICD9:528.0" - "NCIT:C26887" "UMLS:C0038362" + "NCIT:C26887" "MedDRA:10042128" "SCTID:61170000" "MONDO:0004842" + "CLO:0008350" + "RRID:CVCL_0479" + "BTO:0001591" "ONCOTREE:OMGCT" "NCIT:C8114" "MEDGEN:83602" @@ -93775,8 +93782,8 @@ "OMIM:225790" "UMLS:C3203738" "MedDRA:10071718" - "PMID:29875488" "PMID:28613276" + "PMID:29875488" "MedDRA:10084813" "NCIt:C4725" "OMIM:113480" @@ -94019,10 +94026,11 @@ "CAS:17090-79-8" "LINCS:LSM-5659" "KEGG:C06693" - "KEGG COMPOUND:C17962" "ICD10:Q87.0" "OMIM:300484" "UMLS:C0796101" + "KEGG COMPOUND:C17962" + "PMID:29875488" "SCTID:715474004" "OMIM:228900" "GARD:9879" @@ -94036,7 +94044,6 @@ "MEDGEN:148408" "NCIT:C84622" "UMLS:C0751878" - "PMID:29875488" "GARD:8594" "MEDGEN:383668" "UMLS:C1855369" @@ -94589,11 +94596,6 @@ "MEDGEN:234108" "NCIT:C5146" "UMLS:C1332900" - "AAO:0000474" - "TAO:0001217" - "EFO:0003453" - "ZFA:0001217" - "AAO:0010625" "MeSH:C537116" "OMIM:151100" "ICD10:Q87.8" @@ -94604,6 +94606,11 @@ "MedDRA:10057210" "UMLS:C2931424" "MeSH:D044542" + "AAO:0000474" + "TAO:0001217" + "EFO:0003453" + "ZFA:0001217" + "AAO:0010625" "Gmelin:1774558" "Beilstein:3629953" "UMLS:C4540367" @@ -94851,11 +94858,11 @@ "MEDGEN:339565" "OMIM:607214" "GARD:5123" + "PMID:21177962" "MEDGEN:1843389" "GARD:19269" "Orphanet:95483" "UMLS:C5681576" - "PMID:21177962" "MA:0000109" "VSAO:0000094" "FMA:64783" @@ -95167,6 +95174,10 @@ "Orphanet:98130" "ICD9:758.5" "SCTID:429442006" + "UMLS:C0796038" + "MeSH:C538158" + "OMIM:248950" + "ICD10:Q87.8" "UMLS:C0856863" "UMLS:C0014871" "GAID:292" @@ -95175,10 +95186,6 @@ "MESH:D004943" "SCTID:362130006" "NCIT:C32668" - "UMLS:C0796038" - "MeSH:C538158" - "OMIM:248950" - "ICD10:Q87.8" "PMID:29875488" "DOID:10187" "UMLS:C1333455" @@ -95312,17 +95319,18 @@ "UMLS:C4023588" "PMID:35347128" "PMID:29875488" + "MeSH:D012285" + "SNOMEDCT:114233001" "DOID:14150" "MEDGEN:236836" "NCIT:C5157" "UMLS:C1336044" - "MeSH:D012285" - "SNOMEDCT:114233001" "MEDGEN:1802087" "UMLS:C5676908" "OMIM:619725" "UMLS:C4023476" "PMID:35668104" + "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -95332,7 +95340,6 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" - "OMIM:607823" "MeSH:D052958" "GARD:21705" "Orphanet:401923" @@ -95520,9 +95527,9 @@ "CiteXplore:22262041" "PMID:22262041" "CAS:66085-59-4" - "ICD10:G71.0" "Orphanet:1256" "MESH:C536292" + "ICD10:G71.0" "PMID:37794183" "ICD10CM:L12.3" "NANDO:1200635" @@ -95764,14 +95771,13 @@ "UMLS:C4749652" "GARD:20468" "icd11.foundation:123305976" - "PMID:29875488" "Wikipedia:Connecting_tubule" "EMAPA:27790" "BTO:0004539" "MA:0002610" "EMAPA:28011" "EMAPA:27758" - "PMID:23823483" + "PMID:29875488" "UMLS:C4014742" "GARD:18079" "OMIM:615938" @@ -95781,6 +95787,7 @@ "icd11.foundation:853428618" "MEDGEN:1679234" "GARD:19731" + "PMID:23823483" "OMIM:616697" "ICD10:H90.5" "DOID:0050563" @@ -96175,8 +96182,8 @@ "PMID:35995766" "NCIt:C37417" "PMID:29875488" - "SNOMEDCT:74040009" "PMID:28369058" + "SNOMEDCT:74040009" "NCIT:C4914" "MONDO:0002656" "UMLS:C0699893" @@ -96856,8 +96863,8 @@ "PMID:23552670" "OMIM:278740" "ICD10:Q82.1" - "PMID:34814699" "UMLS:C1389280" + "PMID:34814699" "Orphanet:300846" "GARD:21245" "MEDGEN:1791561" @@ -97019,8 +97026,8 @@ "PMID: 19466639" "MEDGEN:83291" "DOID:774" - "SCTID:232075002" "NCIT:C4365" + "SCTID:232075002" "UMLS:C0339556" "ICD9:198.4" "UMLS:C1858033" @@ -97080,10 +97087,10 @@ "OMIMPS:268400" "ICD9:759.89" "Orphanet:2909" - "WBls:0000013" "UMLS:C0020488" "SNOMEDCT_US:39355002" "SNOMEDCT_US:286926003" + "WBls:0000013" "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12922" "GOC:wdd" "NCIt:C12922" @@ -97108,7 +97115,6 @@ "OMIM:605627" "MESH:C565313" "PMID:29875488" - "PMID:29875488" "UMLS:C1969652" "DOID:0110975" "GARD:16963" @@ -97117,6 +97123,7 @@ "SCTID:770406002" "MEDGEN:409880" "icd11.foundation:891810441" + "PMID:29875488" "PMID:29875488" "PMID:37794183" "MIAA:0000249" @@ -97172,16 +97179,16 @@ "EV:0100343" "UMLS:C0023317" "EHDAA:9057" + "Orphanet:439175" + "MEDGEN:1803840" + "UMLS:C5680049" + "GARD:21824" "MEDGEN:1631944" "UMLS:C4706410" "Orphanet:363409" "SCTID:763346009" "OMIM:615368" "GARD:17553" - "Orphanet:439175" - "MEDGEN:1803840" - "UMLS:C5680049" - "GARD:21824" "Orphanet:247775" "OMIM:277000" "GARD:4737" @@ -97387,6 +97394,7 @@ "SCTID:79261008" "PMID:28240269" "RRID:CVCL_B269" + "PMID:36168886" "SNOMEDCT:412421007" "Beilstein:1723795" "SNOMEDCT:25761002" @@ -97399,7 +97407,6 @@ "Gmelin:27318" "KNApSAcK:C00001359" "Wikipedia:Glutamine" - "PMID:36168886" "Orphanet:353298" "OMIM:616651" "OMIM:300258" @@ -97889,16 +97896,16 @@ "DOID:0112174" "GARD:18196" "PMID:35347128" - "FBdv:0005333" - "MAT:0000399" - "EV:0300011" - "EVM:2990031" "UMLS:C0010246" "MESH:D003384" "MeSH:D003384" "MONDO:0005721" "DOID:10545" "MEDGEN:1159" + "FBdv:0005333" + "MAT:0000399" + "EV:0300011" + "EVM:2990031" "PMID:29875488" "PMID:18564034" "MAT:0000366" @@ -97910,6 +97917,9 @@ "PMID:24816252" "OMIM:137763" "MeSH:D060750" + "PMID:33713409" + "UMLS:C0266312" + "NCIt:C103918" "FMA:83036" "MESH:D003713" "BTO:0002042" @@ -97924,9 +97934,6 @@ "Orphanet:261304" "GARD:20777" "MEDGEN:1390091" - "PMID:33713409" - "UMLS:C0266312" - "NCIt:C103918" "SNOMEDCT:434537005" "Orphanet:79316" "GARD:4278" @@ -97966,10 +97973,10 @@ "UMLS:C0426970" "Orphanet:93604" "PMID:29875488" - "FMA:72356" - "MeSH:D018728" "ICD10:E72.8" "OMIM:300352" + "FMA:72356" + "MeSH:D018728" "PMID:29875488" "UMLS:C1840457" "RRID:CVCL_1K15" @@ -98620,11 +98627,11 @@ "DOID:277" "MONDO:0006375" "EFO:1000480" + "NCIt:C5716" "UMLS:C1837015" "OMIM:608984" "DOID:0111170" "MEDGEN:332346" - "NCIt:C5716" "Wikipedia:Erythropoiesis" "DOID:1965" "MEDGEN:274488" @@ -98941,7 +98948,6 @@ "ICD9:161.1" "ICD10CM:C32.1" "UMLS:C0153484" - "PMID:29875488" "MEDGEN:330749" "Orphanet:2085" "OMIM:137763" @@ -98963,6 +98969,7 @@ "NANDO:2200039" "UMLS:C0302809" "SNOMEDCT_US:427044009" + "PMID:29875488" "OMIM:615485" "OMIM:236640" "OMIMPS:607631" @@ -98970,10 +98977,10 @@ "UMLS:C0018681" "ICD10:R51" "PMID:29875488" - "PMID:28628107" "SNOMEDCT_US:40159009" "UMLS:C0024433" "PMID:37253714" + "PMID:28628107" "MESH:C567843" "MEDGEN:414119" "UMLS:C2751831" @@ -99640,13 +99647,13 @@ "OMIM:608594" "OMIM:612526" "OMIM:269700" - "PMID:29875488" "Orphanet:329466" "GARD:10667" "DOID:0090055" "OMIM:615073" "UMLS:C4304670" "MEDGEN:930339" + "PMID:29875488" "NCIT:C9234" "MEDGEN:209512" "UMLS:C1134515" @@ -99937,7 +99944,6 @@ "ICD10:Q82.1" "UMLS:C1848410" "MeSH:C536766" - "PMID:29875488" "SCTID:233604007" "UMLS:C0032285" "MedDRA:10035664" @@ -99958,6 +99964,7 @@ "SNOMEDCT:233604007" "MEDGEN:10813" "MESH:D011014" + "PMID:29875488" "MONDO:0017332" "Orphanet:289478" "MO:933" @@ -100250,7 +100257,6 @@ "UMLS:C0339278" "ICD10:H18.5" "OMIM:608470" - "PMID:24816252" "GARD:9910" "MESH:C535493" "Orphanet:158687" @@ -100276,6 +100282,7 @@ "EHDAA:1498" "CALOHA:TS-1212" "EMAPA:16073" + "PMID:24816252" "MEDGEN:1388385" "UMLS:C4518785" "Orphanet:306504" @@ -100600,16 +100607,16 @@ "NANDO:2100235" "NANDO:2200876" "ICD9:759.89" + "Wikipedia:Ribulose_5-phosphate" "OMIM:603457" "ICD10:Q87.0" - "Wikipedia:Ribulose_5-phosphate" - "PMID:36006120" "PMID:23897579" "OMIM:613576" "GARD:17199" "Orphanet:247827" "UMLS:C3150809" "MEDGEN:462159" + "PMID:36006120" "PMID:19347970" "PMID:21930197" "Reaxys:85302" @@ -101774,9 +101781,9 @@ "GARD:3986" "SCTID:416377005" "NCIT:C3840" + "PMID:29875488" "NCIt:C69141" "MO:893" - "PMID:29875488" "UMLS:C1855848" "OMIM:241310" "GARD:2907" @@ -101856,7 +101863,6 @@ "OMIM:258450" "DOID:0111522" "GARD:15215" - "PMID:37794183" "GARD:16541" "MEDGEN:462080" "Orphanet:712" @@ -101865,6 +101871,7 @@ "SNOMEDCT:33436009" "MeSH:D060054" "NCIt:C86011" + "PMID:37794183" "OMIM:614076" "MedDRA:10071775" "OMIM:203300" @@ -102170,6 +102177,7 @@ "UMLS:C0279000" "ICD10CM:C22.1" "GARD:21786" + "PMID:28928442" "EMAPA:36035" "EFO:0000295" "MESH:D001755" @@ -102189,7 +102197,6 @@ "GARD:18615" "OMIM:115200" "Orphanet:300751" - "PMID:28928442" "PMID:33634981" "LIPID_MAPS_instance:LMFA03010003" "PMID:16787416" @@ -102253,8 +102260,8 @@ "Orphanet:83619" "MEDGEN:1391725" "GARD:19044" - "MESH:D013166" "UMLS:C0038012" + "MESH:D013166" "ICD9:720.89" "DOID:6590" "ICD9:720.8" @@ -102706,11 +102713,11 @@ "GARD:17763" "UMLS:C5568981" "PMID:19347970" + "PMID:34260947" "UMLS:C5436647" "OMIM:619033" "MEDGEN:1776566" "DOID:0081397" - "PMID:34260947" "UMLS:C0013415" "MEDGEN:8517" "MESH:D019263" @@ -103564,8 +103571,8 @@ "DOID:5386" "NCIT:C4455" "UMLS:C0345964" - "PMID:28199695" "MA:0001068" + "PMID:28199695" "PMID:29875488" "PMID:23823483" "ZFA:0000048" @@ -103639,8 +103646,8 @@ "Wikipedia:Biliary_system" "SCTID:361354009" "GAID:279" - "FMA:79646" "NCIT:C12678" + "FMA:79646" "MESH:D001659" "MA:0001273" "MeSH:D018354" @@ -103652,9 +103659,6 @@ "NCIt:C117183" "BTO:0002805" "Orphanet:207122" - "UMLS:C1859432" - "OMIM:210745" - "ICD10:Q87.8" "PMID:19911007" "PMID:20420449" "PMID:26338495" @@ -103695,6 +103699,9 @@ "PMID:24392160" "PMID:17616140" "PMID:26994919" + "UMLS:C1859432" + "OMIM:210745" + "ICD10:Q87.8" "UMLS:C1849937" "NCIt:C53656" "UMLS:C0009768" @@ -103884,6 +103891,12 @@ "MEDGEN:1684214" "GARD:11992" "UMLS:C5191336" + "NCIt:C12588" + "BTO:0000575" + "ZFA:0009111" + "CALOHA:TS-0454" + "https://cellxgene.cziscience.com/cellguide/CL_0000182" + "FMA:14515" "SCTID:237692001" "DOID:0080150" "Orphanet:199296" @@ -103898,12 +103911,6 @@ "NCIt:C120433" "OMIM:201400" "MESH:C535668" - "NCIt:C12588" - "BTO:0000575" - "ZFA:0009111" - "CALOHA:TS-0454" - "https://cellxgene.cziscience.com/cellguide/CL_0000182" - "FMA:14515" "PMID:26068415" "PMID:35347128" "DOID:0060348" @@ -104131,8 +104138,8 @@ "SCTID:258971005" "FMA:18660" "ZFA:0001112" - "TAO:0001112" "EMAPA:35633" + "TAO:0001112" "MA:0001460" "ICD10:Q93.5" "SNOMEDCT:55235003" @@ -104183,8 +104190,8 @@ "NCIT:C45655" "EFO:1000521" "FMA:61906" - "PMID:23823483" "MO:392" + "PMID:23823483" "PMID:29875488" "DOID:0050466" "UMLS:C2697932" @@ -104827,15 +104834,6 @@ "MEDGEN:1759100" "UMLS:C5436652" "OMIM:619036" - "ICD9:379.29" - "ICD10:H43" - "NCIT:C45256" - "MONDO:0044137" - "UMLS:C0155365" - "ICD10:H45" - "MEDGEN:56361" - "NCIt:C45256" - "SCTID:76682005" "SNOMEDCT:300920004" "SCTID:371160000" "MONDO:0005269" @@ -104848,6 +104846,15 @@ "ICD9:447.9" "MeSH:D002340" "NCIt:C84476" + "ICD9:379.29" + "ICD10:H43" + "NCIT:C45256" + "MONDO:0044137" + "UMLS:C0155365" + "ICD10:H45" + "MEDGEN:56361" + "NCIt:C45256" + "SCTID:76682005" "PMID:34610981" "BM:Tel-C-Pu" "BAMS:CPu" @@ -104914,9 +104921,9 @@ "PMID:29875488" "Orphanet:98623" "PMID:35347128" - "RRID:CVCL_0620" "CLO:0007636" "BTO:0001569" + "RRID:CVCL_0620" "PMID:24816252" "EFO:0000304" "MEDGEN:167809" @@ -104974,17 +104981,17 @@ "UMLS:C0010036" "ICD9:371.5" "SCTID:5587004" - "EFO:1000617" - "UMLS:C1519912" - "MONDO:0006487" - "NCIT:C40261" - "MEDGEN:274376" "MEDGEN:318616" "GARD:5456" "Orphanet:314679" "UMLS:C1832390" "DOID:0060238" "OMIMPS:601390" + "EFO:1000617" + "UMLS:C1519912" + "MONDO:0006487" + "NCIT:C40261" + "MEDGEN:274376" "Gmelin:329233" "PMID:29875488" "NCIt:C115248" @@ -105238,6 +105245,7 @@ "BTO:0004798" "OMIM:605285" "ICD10:G60.0" + "ZFA:0000254" "FMA:79792" "EHDAA2:0001382" "EFO:0003434" @@ -105246,7 +105254,6 @@ "TAO:0000254" "EMAPA:17066" "XAO:0001101" - "ZFA:0000254" "OMIM:614436" "ICD10:G60.0" "PMID:37794183" @@ -106073,10 +106080,6 @@ "icd11.foundation:1757434239" "OMIM:600643" "NCIt:C84619" - "PMID:21612224" - "Reaxys:89967" - "CAS:16874-75-2" - "HMDB:HMDB0028878" "DOID:2999" "NCIT:C3070" "MESH:D006106" @@ -106085,6 +106088,10 @@ "MEDGEN:6676" "UMLS:C0018206" "MONDO:0006036" + "PMID:21612224" + "Reaxys:89967" + "CAS:16874-75-2" + "HMDB:HMDB0028878" "PMID:23823483" "MEDGEN:541265" "SCTID:28710006" @@ -106121,8 +106128,8 @@ "MEDGEN:1843079" "icd11.foundation:2097520643" "PMID:26068415" - "PMID:34503513" "PMID:35347128" + "PMID:34503513" "MEDGEN:1823998" "UMLS:C5774225" "OMIM:620066" @@ -106256,6 +106263,7 @@ "MEDGEN:1727046" "UMLS:C5436894" "OMIM:619150" + "UMLS:C0582802" "XAO:0003032" "AAO:0011126" "MA:0000690" @@ -106269,7 +106277,6 @@ "EMAPA:32725" "Wikipedia:Digit_(anatomy)" "galen:Digit" - "UMLS:C0582802" "UMLS:C5830654" "MEDGEN:1841290" "DOID:0070512" @@ -106472,13 +106479,13 @@ "SCTID:764812008" "UMLS:C4707155" "PMID:35347128" + "NCIt:C12748" "DOID:0080647" "UMLS:C2698312" "GARD:22346" "Orphanet:585942" "MEDGEN:437498" "NCIT:C80338" - "NCIt:C12748" "MEDGEN:163204" "SCTID:449817000" "Orphanet:709" @@ -106694,8 +106701,8 @@ "UMLS:C0011350" "MA:0002543" "VSAO:0000065" - "Wikipedia:Enamel_organ" "XAO:0004198" + "Wikipedia:Enamel_organ" "MESH:D003743" "BTO:0001844" "FMA:55629" @@ -106736,11 +106743,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" - "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" + "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -106754,9 +106761,9 @@ "PMID:35347128" "MeSH:D020250" "PMID:29875488" - "MO:23" "OMIM:313900" "ICD10:D69.4" + "MO:23" "NCIt:C64780" "MO:721" "SNOMEDCT:258775009" @@ -106768,11 +106775,6 @@ "DOID:1352" "NCIT:C26843" "MEDGEN:14608" - "NCIt:C28179" - "KEGG COMPOUND:C00420" - "SNOMEDCT:71544008" - "MeSH:D011134" - "KEGG:C00420" "MeSH:C018524" "NCIt:C26311" "Beilstein:2261521" @@ -106780,6 +106782,11 @@ "PDBeChem:DA2" "DrugBank:DB01686" "KEGG:C03626" + "NCIt:C28179" + "KEGG COMPOUND:C00420" + "SNOMEDCT:71544008" + "MeSH:D011134" + "KEGG:C00420" "PMID:30886212" "ZFA:0000672" "PMID:28240269" @@ -107497,18 +107504,6 @@ "MeSH:D018174" "MONDO:0005652" "MESH:D018174" - "SNOMEDCT:70650003" - "MONDO:0006678" - "MESH:D001744" - "UMLS:C0005683" - "DOID:11355" - "MEDGEN:14149" - "MedDRA:10005001" - "MeSH:D001744" - "ICD9:594.1" - "SCTID:70650003" - "NCIt:C26707" - "PMID:29875488" "ZFA:0009077" "MeSH:D017628" "BTO:0000962" @@ -107517,8 +107512,6 @@ "NIFSTD:sao789292116" "SNOMEDCT:63483002" "FMA:54539" - "RRID:CVCL_C836" - "BTO:0005717" "UMLS:C0877024" "NCIT:C135087" "DOID:0060490" @@ -107533,8 +107526,22 @@ "NANDO:1200337" "Orphanet:1830" "NANDO:2200711" - "PMID:35501403" + "RRID:CVCL_C836" + "BTO:0005717" + "SNOMEDCT:70650003" + "MONDO:0006678" + "MESH:D001744" + "UMLS:C0005683" + "DOID:11355" + "MEDGEN:14149" + "MedDRA:10005001" + "MeSH:D001744" + "ICD9:594.1" + "SCTID:70650003" + "NCIt:C26707" + "PMID:29875488" "PMID:28240269" + "PMID:35501403" "Orphanet:413" "DOID:1172" "ICD9:272.1" @@ -108555,8 +108562,8 @@ "DECIPHER:81" "Orphanet:314585" "MEDGEN:1661769" - "PMID:37794183" "Orphanet:370068" + "PMID:37794183" "PMID:35383335" "PMID:29875488" "FBbt:00000210" @@ -108737,11 +108744,6 @@ "UMLS:C4721887" "DOID:0110155" "PMID:37164013" - "MedDRA:10061976" - "DOID:1234" - "UMLS:C0017250" - "NCIt:C94362" - "ICD10:F64" "NCIT:C5673" "MEDGEN:224904" "SCTID:399432003" @@ -108770,6 +108772,11 @@ "MESH:C535780" "ICD9:758.89" "OMIM:272460" + "MedDRA:10061976" + "DOID:1234" + "UMLS:C0017250" + "NCIt:C94362" + "ICD10:F64" "MEDGEN:3623" "NCIT:C35505" "ICD9:414.00" @@ -108879,11 +108886,11 @@ "PMID:35347128" "MCC:0000356" "NCIt:C14352" + "ZFA:0001210" "MEDGEN:1633653" "UMLS:C4693733" "DOID:0070398" "OMIM:617951" - "ZFA:0001210" "NCIT:C33286" "MA:0002423" "SCTID:181621006" @@ -109478,13 +109485,13 @@ "GARD:3443" "Orphanet:79367" "DOID:0050620" - "RRID:CVCL_0284" - "CLO:0003603" "UMLS:C0730308" "icd11.foundation:2011212045" "MEDGEN:452708" "SCTID:312941005" "GARD:12041" + "RRID:CVCL_0284" + "CLO:0003603" "FBbt:00004729" "TGMA:0000197" "TGMA:0000196" @@ -109582,10 +109589,6 @@ "ICD10:G11.8" "PMID:29875488" "PMID:35347128" - "OMIM:300636" - "OMIM:300645" - "OMIM:300584" - "ICD10:D84.8" "MeSH:D018437" "DOID:606" "MESH:D018437" @@ -109597,6 +109600,10 @@ "ICD10CM:G83.81" "MedDRA:10006491" "MEDGEN:69225" + "OMIM:300636" + "OMIM:300645" + "OMIM:300584" + "ICD10:D84.8" "MP:0006202" "ICD10:H43.1" "HP:0007902" @@ -110327,9 +110334,9 @@ "MEDGEN:75591" "UMLS:C0265985" "DOID:4702" - "PMID:35347128" "OMIM:604117" "ICD10:Q82.8" + "PMID:35347128" "PMID:35347128" "PMID:35347128" "NCIt:C117184" @@ -111043,9 +111050,6 @@ "UMLS:C0687140" "OMIM:106100" "MeSH:D054179" - "icd11.foundation:2028476598" - "Orphanet:98154" - "SCTID:726402006" "ICD9:202.83" "NORD:1607" "UMLS:C0349532" @@ -111053,6 +111057,9 @@ "DOID:10540" "NCIT:C4636" "MEDGEN:87603" + "icd11.foundation:2028476598" + "Orphanet:98154" + "SCTID:726402006" "PMID:29875488" "OMIMPS:613155" "DOID:0112375" @@ -111425,9 +111432,9 @@ "SNOMEDCT:3951002" "NCIt:C38011" "SCTID:3951002" + "NCIT:C38011" "MEDGEN:46113" "DOID:3127" - "NCIT:C38011" "MedDRA:10036774" "UMLS:C0033246" "MESH:D011349" @@ -111583,12 +111590,6 @@ "GARD:19122" "PMID:35383335" "PMID:28240269" - "ICD10:E80.5" - "MedDRA:10011386" - "UMLS:C0010324" - "OMIM:606785" - "MeSH:D003414" - "OMIM:218800" "OMIMPS:137800" "TAO:0007049" "ZFA:0007049" @@ -111597,6 +111598,12 @@ "MEDGEN:1773965" "GARD:16431" "UMLS:C5436935" + "ICD10:E80.5" + "MedDRA:10011386" + "UMLS:C0010324" + "OMIM:606785" + "MeSH:D003414" + "OMIM:218800" "NCIT:C124440" "Orphanet:295069" "icd11.foundation:1956537587" @@ -111650,12 +111657,12 @@ "EFO:1000191" "MEDGEN:474460" "NCIT:C96503" - "MedDRA:10043275" "NCIt:C117192" "DOID:2072" "NCIT:C40283" "MEDGEN:276998" "UMLS:C1520097" + "MedDRA:10043275" "SCTID:33979003" "Orphanet:2633" "OMIM:163400" @@ -111771,6 +111778,7 @@ "SCTID:702380008" "UMLS:C0751356" "PMID:37794183" + "PMID:29875488" "NANDO:2200559" "DOID:3321" "ICD10CM:E75.0" @@ -111782,7 +111790,6 @@ "SCTID:33316007" "UMLS:C0268274" "MEDGEN:78656" - "PMID:29875488" "PMID:35264221" "UMLS:C0031110" "EMAPA:35681" @@ -111987,13 +111994,13 @@ "OMIM:612900" "OMIM:603513" "MedDRA:10074398" + "ICD10:Q79.6" + "OMIM:614557" "MEDGEN:859271" "DOID:0070325" "GTR:AN0102113" "NCIT:C118822" "UMLS:C3899677" - "ICD10:Q79.6" - "OMIM:614557" "CAS:9002-60-2" "KEGG:C02017" "KEGG:D00146" @@ -112561,8 +112568,8 @@ "EV:0100387" "MA:0000377" "MESH:D007684" - "GAID:433" "ZFA:0001287" + "GAID:433" "BTO:0000343" "Wikipedia:Renal_tubule" "SCTID:361332007" @@ -113152,6 +113159,7 @@ "GARD:0009396" "Orphanet:401920" "Orphanet:93926" + "PMID:35347128" "UMLS:C0554472" "DOID:421" "ICD9:704.8" @@ -113160,7 +113168,6 @@ "ICD9:704.9" "MESH:D006201" "NCIT:C34656" - "PMID:35347128" "PMID:26115505" "PMID:26066674" "MetaCyc:CPD-396" @@ -113257,6 +113264,9 @@ "UMLS:C1335170" "MEDGEN:235420" "NCIT:C5235" + "UMLS:C1838654" + "OMIM:600092" + "ICD10:Q87.1" "ZFA:0009309" "BTO:0000751" "NCIt:C12529" @@ -113265,9 +113275,6 @@ "SNOMEDCT:52501007" "NCIT:C12529" "CALOHA:TS-0549" - "UMLS:C1838654" - "OMIM:600092" - "ICD10:Q87.1" "MESH:C537615" "UMLS:C2931547" "Orphanet:3082" @@ -113375,8 +113382,8 @@ "CAS:2140-46-7" "KEGG:C15519" "UMLS:C1866010" - "PMID:24816252" "PMID:37164013" + "PMID:24816252" "SCTID:403900000" "ICDO:8074/3" "ICD9:199.1" @@ -113489,6 +113496,10 @@ "OMIM:613675" "ICD10:Q85.0" "MeSH:D041881" + "BTO:0001205" + "CLO:0008893" + "RRID:CVCL_4006" + "PMID:35331647" "MedDRA:10021906" "NCIT:C78359" "MEDGEN:75798" @@ -113498,10 +113509,6 @@ "SCTID:39341005" "NCIt:C78359" "UMLS:C0277524" - "BTO:0001205" - "CLO:0008893" - "RRID:CVCL_4006" - "PMID:35331647" "UMLS:C5191004" "MEDGEN:1679887" "GARD:10948" @@ -113636,8 +113643,8 @@ "EHDAA:8203" "EHDAA:4993" "FMA:7406" - "EHDAA:4977" "EHDAA:4985" + "EHDAA:4977" "EHDAA:4955" "EHDAA:4963" "EHDAA:8175" @@ -113827,13 +113834,13 @@ "UMLS:C1844776" "GARD:10652" "PMID:29875488" - "PMID:29875488" "SNOMEDCT:30482000" "UMLS:C1836038" "NCIt:C247" "Wikipedia:ACE_inhibitor" "Wikipedia:VCAM-1" "PMID:31217265" + "PMID:29875488" "PMID:33283231" "ICD10:Q93.5" "OMIM:613406" @@ -113905,6 +113912,7 @@ "Orphanet:309155" "GARD:7604" "SCTID:238018004" + "KEGG COMPOUND:C18514" "NCIT:C34527" "UMLS:C0011303" "DOID:3213" @@ -113921,7 +113929,6 @@ "SCTID:75072002" "MEDGEN:61528" "GARD:12033" - "KEGG COMPOUND:C18514" "DOID:0081082" "MONDO:0018871" "EFO:0000223" @@ -114219,6 +114226,7 @@ "PMID:35050183" "PMID:33634981" "UMLS:C0596070" + "UMLS:C0240709" "PMID:22211106" "CAS:71-50-1" "NCIt:C94719" @@ -114234,7 +114242,6 @@ "Reaxys:1901470" "SNOMEDCT:54526002" "Beilstein:1901470" - "UMLS:C0240709" "OMIM:602639" "UMLS:C1865092" "MESH:C566513" @@ -114491,6 +114498,8 @@ "UMLS:C2931473" "MeSH:C537335" "Wikipedia:Fusion_protein" + "OMIM:108900" + "ICD10:Q21.1" "GARD:16919" "MEDGEN:1830482" "Orphanet:99854" @@ -114501,8 +114510,6 @@ "SNOMEDCT_US:204888000" "UMLS:C0678230" "PMID:37794183" - "OMIM:108900" - "ICD10:Q21.1" "PMID:29875488" "PMID:33067605" "EFO:0003802" @@ -114632,7 +114639,6 @@ "UMLS:C0235812" "NCIt:C50587" "MedDRA:10054835" - "ATC_code:G" "EV:0100391" "CALOHA:TS-0860" "ZFA:0005294" @@ -114645,6 +114651,7 @@ "MA:0000371" "SCTID:28202009" "EMAPA:28407" + "ATC_code:G" "PMID:32641083" "NANDO:2201361" "GARD:8754" @@ -114824,6 +114831,8 @@ "OMIM:612347" "GARD:10364" "MESH:C567343" + "OMIM:606482" + "ICD10:G60.0" "MeSH:D013275" "MEDGEN:1679277" "Orphanet:401830" @@ -114853,8 +114862,6 @@ "PMID:16659174" "PPDB:1680" "PMID:27665925" - "OMIM:606482" - "ICD10:G60.0" "DOID:0081072" "OMIMPS:213980" "CSP:0571-2717" @@ -115927,6 +115934,8 @@ "UMLS:C0206132" "MeSH:D017668" "ICD10:E77.8" + "OMIM:616684" + "ICD10:G60.0" "NCIT:C3962" "UMLS:C1863236" "NANDO:1200323" @@ -115941,9 +115950,9 @@ "NANDO:2200696" "ICD9:277.2" "DOID:5810" - "OMIM:616684" - "ICD10:G60.0" "PMID:28240269" + "NCIt:C7588" + "ICD10:D47" "MEDGEN:1731194" "UMLS:C5435765" "OMIM:500013" @@ -115952,8 +115961,6 @@ "UMLS:C0853394" "SCTID:423673009" "DOID:8427" - "NCIt:C7588" - "ICD10:D47" "PMID:26068415" "UMLS:C5680583" "Orphanet:183447" @@ -116242,15 +116249,15 @@ "OMIM:208155" "MeSH:C538401" "ICD10:Q87.8" + "UMLS:C5561968" + "MEDGEN:1794178" + "OMIM:619489" "MEDGEN:413749" "GARD:18319" "OMIM:613325" "NCIT:C178394" "MESH:C567643" "UMLS:C2750074" - "UMLS:C5561968" - "MEDGEN:1794178" - "OMIM:619489" "OMIM:620603" "MEDGEN:1848890" "UMLS:C5882719" @@ -116354,11 +116361,6 @@ "PMID:37794183" "PMID:29875488" "PMID:35995766" - "GARD:20965" - "UMLS:C5680741" - "Orphanet:268810" - "icd11.foundation:1464755755" - "MEDGEN:1806905" "MESH:D007897" "icd11.foundation:1942095878" "ICD10CM:B55.2" @@ -116371,6 +116373,11 @@ "NCIT:C34769" "UMLS:C1328252" "DOID:9155" + "GARD:20965" + "UMLS:C5680741" + "Orphanet:268810" + "icd11.foundation:1464755755" + "MEDGEN:1806905" "Wikipedia:Artery#Systemic_arteries" "FMA:66464" "EMAPA:37126" @@ -116560,12 +116567,12 @@ "Orphanet:2635" "MESH:C537356" "UMLS:C0265281" + "EFO:1000266" "DOID:7133" "NCIT:C6763" "MEDGEN:232229" "UMLS:C1333759" "MONDO:0006219" - "EFO:1000266" "ZFA:0000841" "RRID:CVCL_GX99" "PMID: 11479214" @@ -116727,8 +116734,8 @@ "MEDGEN:1632060" "icd11.foundation:1325415519" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC" - "PMID:28240269" "ICD10:N46" + "PMID:28240269" "PMID:33634981" "FMA:75639" "EMAPA:17593" @@ -117275,8 +117282,8 @@ "UMLS:C1836544" "MEDGEN:373113" "OMIM:609241" - "PMID:29875488" "PMID:28240269" + "PMID:29875488" "icd11.foundation:408487090" "UMLS:C0342337" "GARD:3009" @@ -117782,6 +117789,7 @@ "GARD:16110" "PMID:37794183" "PMID:29875488" + "PMID:34503513" "PMID:37794183" "UMLS:C3693482" "ICDO:8832/3" @@ -117815,12 +117823,11 @@ "GARD:21667" "Orphanet:399380" "MEDGEN:1842788" - "PMID:34503513" + "Orphanet:93458" "SNOMEDCT_US:289190003" "UMLS:C0454555" "SNOMEDCT_US:229645001" "UMLS:C0566620" - "Orphanet:93458" "SCTID:236467001" "MEDGEN:90966" "UMLS:C0341702" @@ -118175,16 +118182,16 @@ "HMDB:HMDB0061694" "Beilstein:8177685" "LIPID_MAPS_instance:LMGP03050001" + "OMIM:615553" "UMLS:C0032285" "SNOMEDCT_US:233604007" "KEGG:C15790" "Beilstein:7416517" "LIPID_MAPS_instance:LMST01030132" "KNApSAcK:C00007275" - "OMIM:615553" + "PMID:23823483" "RGD:10044" "NIFSTD:birnlex_320" - "PMID:23823483" "WBbt:0005451" "NCIt:C61019" "SNOMEDCT:105011006" @@ -118507,25 +118514,25 @@ "MEDGEN:373202" "OMIM:609048" "NCIT:C27744" - "DOID:3688" "UMLS:C0270891" + "DOID:3688" "ICD10:G54" "UMLS:C1335437" "MONDO:0024432" "SCTID:2231001" "MEDGEN:543047" "NCIt:C27744" - "GARD:15421" - "OMIM:607829" - "UMLS:C1843003" - "MESH:C564326" - "MEDGEN:335856" "MONDO:0006163" "UMLS:C3272809" "EFO:1000196" "ICDO:8213/3" "MEDGEN:474442" "NCIT:C96485" + "GARD:15421" + "OMIM:607829" + "UMLS:C1843003" + "MESH:C564326" + "MEDGEN:335856" "PMID:28240269" "PMID:29875488" "SNOMEDCT_US:71325002" @@ -118859,8 +118866,6 @@ "PMID:29875488" "PMID:29875488" "PMID:35322040" - "NCIT:C15330" - "ICD10:Z90.4" "icd11.foundation:1534264812" "Orphanet:93383" "SCTID:389168002" @@ -118885,11 +118890,13 @@ "EHDAA2:0000997" "Wikipedia:Liver" "TAO:0000123" - "EV:0100089" "CALOHA:TS-0564" + "EV:0100089" "FMA:7197" "NCIT:C12392" "MA:0000358" + "NCIT:C15330" + "ICD10:Z90.4" "OMIM:164745" "GARD:3643" "MESH:C567664" @@ -119303,8 +119310,8 @@ "SNOMEDCT_US:111516008" "SNOMEDCT_US:246636008" "UMLS:C0344232" - "PMID:37794183" "PMID:23823483" + "PMID:37794183" "GO:0042748" "OMIM:277590" "NORD:1839" @@ -119387,7 +119394,6 @@ "MEDGEN:104919" "DOID:1800" "ICDO:8246/3" - "PMID:35347128" "DOID:2722" "UMLS:C0001197" "CSP:4008-0032" @@ -119398,6 +119404,7 @@ "ICD9:686.8" "SCTID:8197001" "MONDO:0006523" + "PMID:35347128" "UMLS:C2750442" "OMIM:613280" "CAS:7763-65-7" @@ -119430,8 +119437,8 @@ "SCTID:102450007" "ICD10CM:H53.51" "NCIT:C84528" - "PMID:29875488" "PMID:36168886" + "PMID:29875488" "UMLS:C1866012" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03432&Product=CC" "DOID:10087" @@ -119506,8 +119513,8 @@ "OMIM:236000" "UMLS:C0019829" "GARD:16529" - "RRID:CVCL_XF44" "PMID:10594010" + "RRID:CVCL_XF44" "MONDO:0006833" "SNOMEDCT:75667007" "DOID:13196" @@ -119558,6 +119565,7 @@ "Orphanet:1580" "MEDGEN:321954" "NCIT:C130982" + "HMDB:0032822" "UMLS:C4015285" "MEDGEN:863722" "OMIM:616117" @@ -119572,7 +119580,6 @@ "DOID:1803" "MEDGEN:14344" "SCTID:84299009" - "HMDB:0032822" "GARD:11951" "NANDO:2200056" "UMLS:C0035412" @@ -119644,8 +119651,8 @@ "MEDGEN:1648372" "OMIM:618265" "UMLS:C4748872" - "UMLS:C0341059" "PMID:28240269" + "UMLS:C0341059" "PMID:37794183" "DOID:0050628" "ICD10CM:G47.2" @@ -119923,6 +119930,10 @@ "Orphanet:280400" "MESH:D003331" "Wikipedia:Coronary_circulation" + " CLO:0050628" + "BTO:0002047" + "RRID:CVCL_1989" + "CLO:0002571" "SNOMEDCT:76067001" "MeSH:D012912" "NCIt:C50746" @@ -119939,10 +119950,6 @@ "ICD10CM:G35" "MEDGEN:10123" "NANDO:1200023" - " CLO:0050628" - "BTO:0002047" - "RRID:CVCL_1989" - "CLO:0002571" "PMID:29875488" "OMIMPS:600803" "SNOMEDCT:60392001" @@ -119963,7 +119970,6 @@ "OMIM:180700" "MedDRA:10084325" "ICD10:Q87.1" - "ICD10:C69.2" "UMLS:C1253936" "MESH:D006833" "MEDGEN:222181" @@ -119971,6 +119977,7 @@ "ICD9:719.08" "SCTID:387637008" "ICD9:719.00" + "ICD10:C69.2" "PMID:29875488" "PMID:33634981" "MESH:D065817" @@ -120066,6 +120073,7 @@ "MeSH:D010392" "DOID:9182" "SCTID:65172003" + "ICD10:Q98.8" "NCIt:C25552" "MeSH:D007854" "SNOMEDCT:88488004" @@ -120077,7 +120085,6 @@ "UMLS:C4708599" "GARD:16875" "SCTID:39302008" - "ICD10:Q98.8" "UMLS:C1334576" "NCIT:C5126" "MEDGEN:233659" @@ -120211,7 +120218,6 @@ "MEDGEN:1732975" "GARD:15350" "OMIM:602722" - "PMID:33634981" "SNOMEDCT:272784002" "SNOMEDCT:46293006" "KEGG:D00780" @@ -120219,6 +120225,7 @@ "Beilstein:6048116" "NCIt:C51181" "CAS:22260-51-1" + "PMID:33634981" "Orphanet:294927" "MEDGEN:1809253" "UMLS:C5676931" @@ -120517,7 +120524,6 @@ "BTO:0002025" "CLO:0051569" "RRID:CVCL_1288" - "GC_ID:1" "SCTID:702312009" "Orphanet:1412" "UMLS:C1861305" @@ -120548,6 +120554,7 @@ "PMID:34885715" "PMID:36315326" "Pesticides:chitosan" + "GC_ID:1" "Orphanet:2670" "OMIM:609049" "NCIT:C128145" @@ -120585,7 +120592,6 @@ "MEDGEN:1851769" "OMIM:620532" "UMLS:C5848786" - "PMID:29875488" "MEDGEN:375064" "OMIM:607831" "DOID:0110167" @@ -120593,6 +120599,7 @@ "UMLS:C1842983" "SCTID:725047007" "GARD:12448" + "PMID:29875488" "PMID:35347128" "SCTID:721974000" "icd11.foundation:698387769" @@ -120768,8 +120775,8 @@ "MEDGEN:1794183" "UMLS:C5561973" "OMIM:619501" - "PMID:37794183" "PMID:23602152" + "PMID:37794183" "MONDO:0009237" "SCTID:6121001" "MeSH:D017573" @@ -121122,13 +121129,9 @@ "UMLS:C0020473" "SCTID:55822004" "ICD10CM:E78.5" + "PMID:24816252" "UMLS:C3839753" "SNOMEDCT_US:700189007" - "SNOMEDCT:14045001" - "NCIt:C48325" - "NCIt:C43851" - "NCIt:C41261" - "SNOMEDCT:413773004" "MONDO:0014776" "GARD:17811" "NCIT:C171269" @@ -121137,7 +121140,11 @@ "OMIM:616795" "MEDGEN:902592" "DOID:0111742" - "PMID:24816252" + "SNOMEDCT:14045001" + "NCIt:C48325" + "NCIt:C43851" + "NCIt:C41261" + "SNOMEDCT:413773004" "icd11.foundation:1619102598" "OMIM:207800" "DOID:9278" @@ -121281,10 +121288,10 @@ "DOID:0060707" "OMIM:613011" "MEDGEN:765548" - "CMO:0000765" "SNOMEDCT:67168003" "NCIt:C14195" "MeSH:D003455" + "CMO:0000765" "WBls:0000008" "MEDGEN:378389" "NCIT:C2906" @@ -121485,10 +121492,9 @@ "PMID:37794183" "SNOMEDCT:48331004" "NCIt:C86500" - "XAO:0003166" "Wikipedia:Appendicular_skeleton" - "VSAO:0000076" "MIAA:0000278" + "VSAO:0000076" "MAT:0000278" "FMA:71222" "EFO:0000951" @@ -121498,6 +121504,7 @@ "SCTID:322050006" "MA:0000290" "EMAPA:32729" + "XAO:0003166" "NCIT:C114389" "MONDO:0044014" "ICD10:O90.5" @@ -121662,6 +121669,10 @@ "Orphanet:98958" "MEDGEN:573075" "PMID:29875488" + "UMLS:C1515285" + "NCIT:C39947" + "MEDGEN:308257" + "DOID:6032" "OMIM:614284" "ICD10:Q87.5" "OMIM:108300" @@ -121671,10 +121682,6 @@ "OMIM:604841" "OMIM:614134" "MedDRA:10063402" - "UMLS:C1515285" - "NCIT:C39947" - "MEDGEN:308257" - "DOID:6032" "PMID:29875488" "UMLS:C0032046" "DOID:11060" @@ -121686,6 +121693,8 @@ "ICD10:O44" "MONDO:0005918" "MeSH:D010923" + "OMIM:608355" + "ICD10:Q87.2" "ICD9:588.0" "NCIt:C114827" "UMLS:C0035086" @@ -121700,8 +121709,6 @@ "MEDGEN:20524" "SCTID:16726004" "UMLS:C1969879" - "OMIM:608355" - "ICD10:Q87.2" "PMID:34035401" "ICD10:D55.2" "MEDGEN:1386287" @@ -122003,10 +122010,10 @@ "ICD10:Q87.2" "PMID:29875488" "PMID:35995766" + "PMID:25342443" "UMLS:C5562003" "MEDGEN:1794213" "OMIM:619574" - "PMID:25342443" "DOID:5998" "UMLS:C0085750" "NCIt:C3484" @@ -122021,8 +122028,8 @@ "ICD10:E75.5" "OMIM:616754" "MEDGEN:755620" - "SCTID:446022000" "EFO:0002919" + "SCTID:446022000" "UMLS:C2960452" "MONDO:0005213" "PMID:37794183" @@ -122088,9 +122095,9 @@ "PMID:37794183" "UMLS:C0268576" "SNOMEDCT_US:24013007" + "PMID:35347128" "FBbt:00001719" "Orphanet:399391" - "PMID:35347128" "PMID:23260138" "NCIT:C3157" "MEDGEN:9710" @@ -122129,8 +122136,8 @@ "MA:0002565" "GAID:900" "FMA:59160" - "EMAPA:35754" "SCTID:361697005" + "EMAPA:35754" "MedDRA:10060360" "OMIM:300755" "UMLS:C0221026" @@ -122221,11 +122228,11 @@ "SCTID:718554005" "PMID:28240269" "PMID:28240269" + "ICD10:Q93.3" "UMLS:C5191419" "DOID:0080503" "MEDGEN:1683744" "OMIMPS:614080" - "ICD10:Q93.3" "ICD10:Q43.1" "NCIT:C34927" "DOID:11257" @@ -122369,12 +122376,12 @@ "OMIM:211750" "UMLS:C0796095" "DOID:0111581" + "PMID:28092692" "MedDRA:10068196" "ICD9:337.3" "ICD10:G90.4" "SNOMEDCT:129618003" "MeSH:D020211" - "PMID:28092692" "MEDGEN:1810214" "SCTID:764860006" "GARD:17767" @@ -122462,10 +122469,10 @@ "MEDGEN:934710" "Orphanet:497906" "UMLS:C4310743" + "PMID:35995766" "SNOMEDCT_US:16652001" "SNOMEDCT_US:124464003" "UMLS:C0002986" - "PMID:35995766" "UMLS:C0266456" "NCIT:C124517" "SCTID:52330001" @@ -122620,13 +122627,13 @@ "DOID:12661" "SNOMEDCT:14901003" "MeSH:D020254" - "PubChem:16064" - "CAS:3422-31-9" "GARD:18150" "UMLS:C4748162" "MEDGEN:1648377" "DOID:0111644" "OMIM:618094" + "PubChem:16064" + "CAS:3422-31-9" "DOID:5042" "UMLS:C0334618" "NCIT:C4336" @@ -122890,12 +122897,12 @@ "MEDGEN:57615" "ICD9:482.30" "ICD9:482.39" + "PMID:24816252" "ICD9:397.1" "DOID:5748" "SCTID:18687009" "MEDGEN:510027" "UMLS:C0155579" - "PMID:24816252" "PMID:25607527" "BTO:0005379" "CLO:0037074" @@ -122998,7 +123005,6 @@ "ICD10:G23.1" "MeSH:C537240" "UMLS:C1850077" - "PMID:35332118" "MEDGEN:929661" "icd11.foundation:291957825" "SCTID:720570007" @@ -123007,6 +123013,7 @@ "GARD:982" "Orphanet:93389" "UMLS:C4303992" + "PMID:35332118" "MEDGEN:838971" "Orphanet:300564" "UMLS:C3872815" @@ -123471,14 +123478,14 @@ "Wikipedia:Antiemetic" "MeSH:D000932" "SNOMEDCT:372764000" - "UMLS:C0795895" - "OMIM:203550" - "MeSH:C537051" - "ICD10:Q87.8" "OMIM:605588" "MeSH:C537990" "ICD10:G60.0" "UMLS:C1854154" + "UMLS:C0795895" + "OMIM:203550" + "MeSH:C537051" + "ICD10:Q87.8" "OMIM:605362" "PMID:29875488" "MA:0000773" @@ -123519,9 +123526,9 @@ "MedDRA:10059483" "NCIt:C111649" "PMID:24816252" + "PMID:35347128" "UMLS:C4073241" "PMID:28240269" - "PMID:35347128" "UMLS:C3536893" "NCIT:C27291" "MEDGEN:760735" @@ -123698,8 +123705,8 @@ "NLXANAT:1005006" "EFO:0001978" "BAMS:PERI" - "BTO:0004355" "PBA:128012080" + "BTO:0004355" "Wikipedia:Perirhinal_cortex" "BM:Tel-Cx-PRh" "MBA:922" @@ -123707,10 +123714,6 @@ "MA:0000912" "EMAPA:35682" "PMID:37794183" - "MedDRA:10030983" - "SNOMEDCT:235049008" - "UMLS:C0206139" - "NCIt:C7406" "PMID:37794183" "MetaCyc:3.2.1.3-RXN" "EC:3.2.1.3" @@ -123723,6 +123726,10 @@ "MEDGEN:96578" "ICD9:756.9" "UMLS:C0432198" + "MedDRA:10030983" + "SNOMEDCT:235049008" + "UMLS:C0206139" + "NCIt:C7406" "MEDGEN:462002" "GARD:15655" "UMLS:C3150652" @@ -123912,10 +123919,6 @@ "OMIM:256731" "UMLS:C0431692" "ICD10:Q60.4" - "UMLS:C0796173" - "OMIM:271700" - "MeSH:C535799" - "ICD10:Q77.7" "GARD:4206" "NCIT:C43298" "icd11.foundation:1385362916" @@ -123925,6 +123928,10 @@ "UMLS:C2931038" "Orphanet:1333" "MEDGEN:419700" + "UMLS:C0796173" + "OMIM:271700" + "MeSH:C535799" + "ICD10:Q77.7" "MeSH:D001159" "CAS:72-43-5" "Beilstein:2057367" @@ -124009,16 +124016,16 @@ "UMLS:C1849554" "SCTID:45142002" "GARD:9900" - "ICDO:8450/0" - "MEDGEN:41386" - "MESH:D018292" - "UMLS:C0010636" - "NCIT:C2974" "UMLS:C4280613" "SNOMEDCT_US:707598004" "UMLS:C0024636" "UMLS:C4280614" "SNOMEDCT_US:47944004" + "ICDO:8450/0" + "MEDGEN:41386" + "MESH:D018292" + "UMLS:C0010636" + "NCIT:C2974" "DOID:13575" "MEDGEN:845321" "ICD9:252.02" @@ -124370,13 +124377,13 @@ "SCTID:763276000" "MEDGEN:1641655" "RRID:CVCL_DR61" + "PMID:29875488" "DOID:0070244" "UMLS:C5568562" "OMIM:616276" "Orphanet:457185" "GARD:17796" "MEDGEN:1799985" - "PMID:29875488" "GAZ:00004525" "PMID:37794183" "UMLS:C1849134" @@ -125251,13 +125258,6 @@ "Orphanet:1437" "NCIT:C36474" "GTR:AN0102272" - "OMIM:312840" - "UMLS:C1839320" - "GARD:9288" - "MEDGEN:374193" - "MESH:C536630" - "Orphanet:85285" - "SCTID:719010001" "PMID:32737935" "PMID:29079364" "PMID:23666640" @@ -125307,6 +125307,13 @@ "PMID:11033063" "Beilstein:1366759" "PMID:23181601" + "OMIM:312840" + "UMLS:C1839320" + "GARD:9288" + "MEDGEN:374193" + "MESH:C536630" + "Orphanet:85285" + "SCTID:719010001" "PMID:37794183" "PMID:37794183" "NANDO:1200080" @@ -125392,6 +125399,7 @@ "UMLS:C0398626" "ICD9:286.3" "ICD10:M89.2" + "PMID:29875488" "HP:0001704" "MESH:D014263" "MEDGEN:11912" @@ -125403,8 +125411,6 @@ "icd11.foundation:973833808" "MONDO:0007001" "MeSH:D014263" - "PMID:29875488" - "PMID:36168886" "OMIM:614613" "MEDGEN:766164" "GARD:15823" @@ -125417,6 +125423,7 @@ "UMLS:C3272767" "GARD:19754" "SCTID:725167001" + "PMID:36168886" "OMIM:609055" "Orphanet:228357" "MESH:C537953" @@ -125634,8 +125641,8 @@ "MeSH:C536194" "ICD10:Q79.6" "NCIT:C9019" - "FMA:59790" "UMLS:C0030580" + "FMA:59790" "NCIT:C12427" "EFO:0002558" "EV:0100060" @@ -125918,9 +125925,9 @@ "OMIMPS:614937" "SCTID:763770005" "Orphanet:319189" - "PMID:34503513" "OMIM:613287" "ICD10:G60.0" + "PMID:34503513" "PMID:35347128" "MP:0003644" "SNOMEDCT_US:444717006" @@ -126202,9 +126209,9 @@ "MEDGEN:21887" "UMLS:C0042929" "SCTID:9078005" + "NCIT:C3440" "MONDO:0021420" "MedDRA:10047675" - "NCIT:C3440" "NANDO:2100204" "SCTID:234532001" "MEDGEN:7034" @@ -126430,7 +126437,6 @@ "OMIM:136120" "ICD10:E78.6" "OMIM:245900" - "SNOMEDCT:104796004" "OMIM:612075" "SCTID:765100000" "DOID:0070331" @@ -126439,6 +126445,7 @@ "DOID:0080127" "UMLS:C2749861" "Orphanet:255235" + "SNOMEDCT:104796004" "OMIM:278720" "SCTID:25784009" "UMLS:C2752147" @@ -126448,11 +126455,11 @@ "DOID:0110844" "MESH:C567886" "NCIT:C114770" - "PMID:34610981" "Orphanet:99989" "GARD:19724" "MEDGEN:1843317" "UMLS:C5680423" + "PMID:34610981" "RRID:CVCL_1054" " CLO:0050951" "BTO:0005550" @@ -126532,11 +126539,11 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" + "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" - "PMID:29875488" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" @@ -126850,12 +126857,12 @@ "UMLS:C1334675" "DOID:6208" "MEDGEN:235314" - "RRID:CVCL_IR93" - "PMID: 26629530" - "Orphanet:400022" "MeSH:D019588" "MedDRA:10063493" "UMLS:C0231341" + "RRID:CVCL_IR93" + "PMID: 26629530" + "Orphanet:400022" "PMID:35347128" "UMLS:C1836860" "DOID:0111097" @@ -127113,16 +127120,6 @@ "PMID:35347128" "OMIM:222470" "OMIM:614602" - "MeSH:D058497" - "ICD10:Q87.0" - "MedDRA:10080219" - "OMIM:617666" - "OMIM:617667" - "OMIM:219000" - "UMLS:C0796182" - "OMIM:603671" - "MeSH:C535657" - "ICD10:Q75.8" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -127130,6 +127127,12 @@ "UMLS:C1531608" "EFO:0003073" "DOID:9551" + "MeSH:D058497" + "ICD10:Q87.0" + "MedDRA:10080219" + "OMIM:617666" + "OMIM:617667" + "OMIM:219000" "PMID:33634981" "AAO:0000545" "UMLS:C0035561" @@ -127148,6 +127151,10 @@ "ZFA:0000538" "EMAPA:18010" "Wikipedia:Rib" + "UMLS:C0796182" + "OMIM:603671" + "MeSH:C535657" + "ICD10:Q75.8" "ICD9:078.89" "NCIT:C128418" "MESH:D007835" @@ -127415,17 +127422,6 @@ "MESH:D018297" "PMID:37794183" "PMID:30217807" - "SCTID:27052006" - "MEDGEN:6186" - "ICD9:084.1" - "NCIT:C34800" - "MeSH:D016780" - "MESH:D016780" - "DOID:12978" - "ICD10:B51" - "MONDO:0005921" - "ICD10CM:B51" - "UMLS:C0024537" "UMLS:C0279687" "NCIT:C7986" "DOID:6037" @@ -127439,6 +127435,17 @@ "Orphanet:293621" "OMIM:300779" "MESH:C567587" + "SCTID:27052006" + "MEDGEN:6186" + "ICD9:084.1" + "NCIT:C34800" + "MeSH:D016780" + "MESH:D016780" + "DOID:12978" + "ICD10:B51" + "MONDO:0005921" + "ICD10CM:B51" + "UMLS:C0024537" "UMLS:C5679589" "GARD:20172" "Orphanet:180068" @@ -128332,8 +128339,8 @@ "CAS:102121-60-8" "PDB:3KMR" "PMID:22353356" - "PMID:20453882" "PMID:22258322" + "PMID:20453882" "MeSH:C068073" "CiteXplore:19700416" "CiteXplore:20147703" @@ -128672,6 +128679,7 @@ "NCIT:C84897" "icd11.foundation:182200345" "PMID:35347128" + "PMID:29875488" "EHDAA:4949" "SCTID:361989001" "UMLS:C1261077" @@ -128679,7 +128687,6 @@ "galen:LowerLobeOfLeftLung" "FMA:7371" "EHDAA2:0000945" - "PMID:29875488" "SNOMEDCT:4166007" "Orphanet:307711" "OMIM:238320" @@ -128755,8 +128762,8 @@ "Orphanet:1318" "SCTID:720599002" "PMID:35347128" - "NCIt:C28038" "PMID:29875488" + "NCIt:C28038" "PMID:37794183" "https://en.wikipedia.org/wiki/Clostridium_difficile_infection" "MedDRA:10054236" @@ -129086,10 +129093,10 @@ "MedDRA:10052452" "DOID:0060849" "UMLS:C0432252" + "PMID:35347128" "OMIM:215500" "UMLS:C4551884" "MEDGEN:1639900" - "PMID:35347128" "DOID:0112063" "OMIM:301051" "UMLS:C5435745" @@ -129408,6 +129415,7 @@ "AAO:0010372" "EFO:0003684" "XAO:0003179" + "PMID:29875488" "Reaxys:1727945" "PMID:23989918" "DrugBank:DB01727" @@ -129437,7 +129445,6 @@ "GARD:17175" "MEDGEN:1668791" "icd11.foundation:1982772708" - "PMID:29875488" "Orphanet:3050" "NCIt:C76204" "SNOMEDCT:57522007" @@ -129832,9 +129839,6 @@ "MEDGEN:14611" "MONDO:0006889" "NCIT:C34893" - "UMLS:C0022073" - "SNOMEDCT_US:77971008" - "FBbt:00004914" "SCTID:40178009" "UMLS:C0149526" "MEDGEN:508394" @@ -129844,6 +129848,9 @@ "Wikipedia:Urticaria#Allergic_urticaria" "ICD9:708.0" "MedDRA:10001734" + "UMLS:C0022073" + "SNOMEDCT_US:77971008" + "FBbt:00004914" "Orphanet:667" "OMIMPS:259700" "NCIT:C129733" @@ -130169,8 +130176,8 @@ "Orphanet:168829" "OMIM:277610" "ICD10:Q77.7" - "UMLS:C4023007" "PMID:26458175" + "UMLS:C4023007" "NCIt:C112199" "icd11.foundation:843084384" "ICD9:529.0" @@ -130818,16 +130825,16 @@ "SNOMEDCT_US:36649002" "SNOMEDCT_US:389026000" "UMLS:C0003962" + "NCIT:C4668" + "UMLS:C0349663" + "SCTID:278042005" + "MEDGEN:91164" "UMLS:C3890205" "NCIt:C119033" "MONDO:0019432" "GARD:3931" "Orphanet:85408" "MEDGEN:855549" - "NCIT:C4668" - "UMLS:C0349663" - "SCTID:278042005" - "MEDGEN:91164" "UMLS:C0085660" "UMLS:C0520474" "SNOMEDCT_US:398199007" @@ -130948,13 +130955,6 @@ "icd11.foundation:1596856936" "HP:0008255" "MEDGEN:449530" - "EFO:0007360" - "SCTID:126550004" - "MESH:D008441" - "MEDGEN:44312" - "DOID:4618" - "UMLS:C0024954" - "MONDO:0005841" "UMLS:C2677535" "MESH:C567425" "Orphanet:157954" @@ -130962,6 +130962,13 @@ "GARD:16987" "MEDGEN:394313" "DOID:0112244" + "EFO:0007360" + "SCTID:126550004" + "MESH:D008441" + "MEDGEN:44312" + "DOID:4618" + "UMLS:C0024954" + "MONDO:0005841" "MESH:C564732" "DOID:0110846" "OMIM:278740" @@ -131472,9 +131479,9 @@ "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" - "OMIMPS:301108" "OMIM:611863" "ICD10:Q15.8" + "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" "MO:858" @@ -131640,7 +131647,6 @@ "MESH:C538160" "Orphanet:2001" "MEDGEN:444135" - "PMID:36210801" "OMIM:261000" "GARD:3024" "MedDRA:10070440" @@ -131652,11 +131658,12 @@ "DOID:0050734" "UMLS:C1394891" "SCTID:34925000" + "PMID:36210801" "SNOMEDCT:5595000" "MeSH:D012485" - "PMID:37794183" "http://purl.obolibrary.org/obo/NCIT_C103446" "PMID:30929638" + "PMID:37794183" "MEDGEN:462208" "DECIPHER:68" "UMLS:C3150858" @@ -131957,6 +131964,8 @@ "ICD10:Q87.8" "NCIT:C132101" "PMID:29875488" + "icd11.foundation:1342789404" + "Orphanet:295057" "OMIM:153100" "OMIM:247440" "OMIM:611944" @@ -131964,8 +131973,6 @@ "UMLS:C1704423" "OMIM:615907" "ICD10:Q82.0" - "icd11.foundation:1342789404" - "Orphanet:295057" "PMID:29875488" "MeSH:D019332" "GlyTouCan:G74111MH" @@ -132014,7 +132021,6 @@ "OMIM:140600" "MEDGEN:854385" "UMLS:C3887526" - "PMID:35347128" "NCIT:C84554" "SCTID:42295001" "ICD10EXP:G63.3*" @@ -132034,6 +132040,7 @@ "OMIMPS:105210" "NANDO:1201060" "Orphanet:271861" + "PMID:35347128" "SNOMEDCT:83723009" "NCIt:C86535" "MeSH:D009162" @@ -132470,10 +132477,6 @@ "OMIM:600991" "ICD10:Q87.8" "PMID:28240269" - "DOID:2751" - "MedDRA:10053242" - "SNOMEDCT:235908005" - "MeSH:D006015" "MedDRA:10052306" "UMLS:C5680106" "MEDGEN:1843348" @@ -132490,6 +132493,10 @@ "NANDO:1200103" "Orphanet:79271" "icd11.foundation:1755913480" + "DOID:2751" + "MedDRA:10053242" + "SNOMEDCT:235908005" + "MeSH:D006015" "MESH:C566194" "DOID:0110972" "OMIM:113300" @@ -132556,9 +132563,9 @@ "MESH:D044682" "FMA:14545" "galen:AscendingColon" - "MA:0001541" "CALOHA:TS-0057" "EMAPA:35151" + "MA:0001541" "EFO:0000843" "MAT:0000311" "MIAA:0000311" @@ -132686,6 +132693,7 @@ "NCIt:C231" "MeSH:D000596" "Wikipedia:Amino_acid" + "UMLS:C0749379" "MeSH:D012221" "NCIT:C92189" "MESH:D012221" @@ -132695,7 +132703,6 @@ "MONDO:0024332" "NCIt:C92189" "UMLS:C0035457" - "UMLS:C0749379" "PMID:29875488" "SNOMEDCT:437840005" "PMID:31367044" @@ -132980,12 +132987,12 @@ "NCIT:C5061" "UMLS:C1519826" "MEDGEN:275549" - "ZFS:0000008" "OMIM:601885" "OMIM:604307" "OMIM:115700" "ICD10:Q12.0" "OMIM:601547" + "ZFS:0000008" "HMDB:0015436" "MedDRA:10073182" "UMLS:C0431904" @@ -133482,14 +133489,14 @@ "COHD:437238" "UMLS:C0334298" "SCTID:253002004" - "ZFA:0001263" "ICD10:E76.2" "OMIM:601492" + "ZFA:0001263" + "PMID:24816252" "DOID:8211" "MEDGEN:273292" "UMLS:C1517111" "NCIT:C40114" - "PMID:24816252" "CLO:0001296" " CLO:0001296" "RRID:CVCL_0118" @@ -134009,6 +134016,7 @@ "MeSH:D012486" "SNOMEDCT:50136005" "PMID:35347128" + "DOID:2945" "SCTID:398447004" "UMLS:C1175175" "MEDGEN:262817" @@ -134023,7 +134031,6 @@ "GARD:9237" "ICD9:079.82" "NCIT:C85064" - "DOID:2945" "PMID:37794183" "PMID:29875488" "ZFA:0000264" @@ -134267,6 +134274,7 @@ "UMLS:C5561941" "MEDGEN:1794151" "OMIM:619441" + "PMID:28240269" "PMID:8482346" "HMDB:HMDB0000252" "PMID:16341241" @@ -134280,7 +134288,6 @@ "PDBeChem:SQS" "Reaxys:1727294" "LIPID_MAPS_instance:LMSP01010001" - "PMID:28240269" "GARD:3881" "MESH:C564026" "UMLS:C1839028" @@ -134412,6 +134419,7 @@ "UMLS:C1856476" "MEDGEN:341563" "PMID:28240269" + "PMID:29875488" "PMID:24816252" "PMID:28240269" "SCTID:49526009" @@ -134422,7 +134430,6 @@ "MEDGEN:10911" "PMID:24939585" "MESH:D011304" - "PMID:29875488" "SCTID:716248001" "Orphanet:3253" "OMIM:225060" @@ -134545,17 +134552,17 @@ "ICD10:E05.8" "ICD10:E05.4" "PMID:29875488" - "NCIt:C79663" - "MeSH:D027343" - "MAT:0000219" - "PO:0004542" - "BTO:0001181" "UMLS:C2827356" "NCIT:C84270" "MEDGEN:417664" "DOID:0080164" "Orphanet:168943" "GARD:20105" + "NCIt:C79663" + "MeSH:D027343" + "MAT:0000219" + "PO:0004542" + "BTO:0001181" "NANDO:2200774" "ICD9:086.9" "UMLS:C0041227" @@ -135031,7 +135038,6 @@ "ICD10:G00.1" "MeSH:D008586" "NCIT:C157958" - "PMID:35347128" "MetaCyc:CPD-9269" "PMID:19262997" "PMID:24453416" @@ -135063,6 +135069,7 @@ "PMID:19271323" "HMDB:HMDB0033592" "KEGG:C08265" + "PMID:35347128" "NCIt:C114551" "UMLS:C1860493" "UMLS:C0001622" @@ -135434,9 +135441,9 @@ "OMIM:616004" "HMDB:HMDB0008006" "LIPID_MAPS_instance:LMGP01010690" + "PMID:31530798" "PMID:37794183" "SNOMEDCT:4983002" - "PMID:31530798" "Wikipedia:Virchow-Robin_space" "NCIT:C83196" "UMLS:C0225983" @@ -136076,11 +136083,11 @@ "MEDGEN:3588" "OMIM:153630" "UMLS:C0009677" + "ICD10:Q93.5" "PMID:36210801" "MEDGEN:220902" "OMIMPS:209880" "UMLS:C1275808" - "ICD10:Q93.5" "ICD10:Q87.2" "DOID:3327" "ICD9:780.39" @@ -136292,6 +136299,16 @@ "PMID:26610844" "PMID:27528800" "Wikipedia:Tafenoquine" + "PMID:23503052" + "DOID:8535" + "MedDRA:10030865" + "MESH:D006563" + "SCTID:87513003" + "MONDO:0005883" + "MeSH:D006563" + "UMLS:C0019364" + "MEDGEN:9236" + "ICD9:053.29" "NCIT:C45716" "Wikipedia:NUT_midline_carcinoma" "UMLS:CN237663" @@ -136304,16 +136321,6 @@ "ICD10:C80.9" "MEDGEN:312999" "MONDO:0005563" - "PMID:23503052" - "DOID:8535" - "MedDRA:10030865" - "MESH:D006563" - "SCTID:87513003" - "MONDO:0005883" - "MeSH:D006563" - "UMLS:C0019364" - "MEDGEN:9236" - "ICD9:053.29" "GARD:18266" "DOID:0111204" "OMIM:600794" @@ -136714,8 +136721,8 @@ "MEDGEN:43932" "SNOMEDCT_US:128473001" "UMLS:C0042164" - "PMID:37794183" "PMID:29875488" + "PMID:37794183" "PMID:37794183" "UMLS:C5676886" "MEDGEN:1812534" @@ -136936,8 +136943,8 @@ "MIAA:0000296" "Wikipedia:Torso" "XAO:0003025" - "FMA:7181" "EMAPA:31857" + "FMA:7181" "TAO:0001115" "MAT:0000296" "UMLS:C0460005" @@ -137299,11 +137306,11 @@ "OMIM:616005" "DOID:0111949" "UMLS:C4014934" + "UMLS:C4025355" "UMLS:C0265289" "OMIM:156500" "MeSH:C537352" "ICD10:Q78.5" - "UMLS:C4025355" "PMID:37794183" "GARD:4954" "OMIM:608029" @@ -137511,15 +137518,15 @@ "CLO:0001630" "BTO:0002641" " CLO:0050419" - "NCIT:C40444" - "MEDGEN:274089" - "UMLS:C1518721" - "DOID:2143" "Orphanet:357332" "OMIM:615170" "GARD:17551" "UMLS:C3554611" "MEDGEN:767525" + "NCIT:C40444" + "MEDGEN:274089" + "UMLS:C1518721" + "DOID:2143" "PATO:0001341" "MO:659" "MESH:D001890" @@ -137549,7 +137556,6 @@ "UMLS:C4305024" "Orphanet:163971" "SCTID:719013004" - "PMID:29875488" "RRID:CVCL_3617" "CLO:0009485" "BTO:0002576" @@ -137587,6 +137593,7 @@ "PMID:3196084" "PMID:23543734" "PMID:18034796" + "PMID:29875488" "KEGG:D00054" "Gmelin:489332" "CAS:58-63-9" @@ -138201,13 +138208,13 @@ "Reactome:R-HSA-2160892" "Reactome:R-HSA-1793209" "PMID:37794183" - "PMID:36006120" "ICD9:788.1" "SNOMEDCT:49650001" "MedDRA:10013990" "ICD10:R30" "NCIt:C2999" "MeSH:D053159" + "PMID:36006120" "UMLS:C0220686" "OMIM:147800" "MedDRA:10063429" @@ -138456,11 +138463,11 @@ "DOID:0060290" "NANDO:2200982" "PMID:35347128" - "PMID:35347128" "MEDGEN:237128" "DOID:0080491" "OMIM:116860" "UMLS:C1366911" + "PMID:35347128" "UMLS:C2931324" "MEDGEN:419386" "UMLS:C3495538" @@ -138622,6 +138629,7 @@ "NCIT:C3264" "MEDGEN:45034" "SNOMEDCT:86228006" + "PMID:36006120" "NCIT:C4073" "MEDGEN:90148" "UMLS:C0302327" @@ -138659,7 +138667,6 @@ "EMAPA:17602" "PMID:37794183" "NCIt:C35869" - "PMID:36006120" "PMID:34814699" "PMID:31530798" "UMLS:C5679984" @@ -139299,12 +139306,12 @@ "UMLS:C0948039" "PMID:28240269" "PMID:33430853" + "PMID:30659259" "ICD10:D30" "MedDRA:10046702" "MeSH:D014565" "ICD10:D41" "ICD10:D07" - "PMID:30659259" "PMID:24816252" "PMID:28240269" "MESH:C566192" @@ -139455,11 +139462,11 @@ "PMID:30053915" "PMID:28204635" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC" + "ICD10:E77.8" + "OMIM:212065" "UMLS:C0855323" "PMID:34982741" "PMID:29875488" - "ICD10:E77.8" - "OMIM:212065" "PMID:23823483" "IDOMAL:0000321" "OMIM:608768" @@ -139735,8 +139742,6 @@ "NCIT:C4935" "EFO:1000300" "UMLS:C0745216" - "TGEMO:00050" - "MGI:2160604" "OMIM:301030" "MEDGEN:930741" "DOID:0111840" @@ -139746,6 +139751,8 @@ "UMLS:C4305072" "SNOMEDCT:115015008" "NCIt:C86632" + "TGEMO:00050" + "MGI:2160604" "MeSH:C001803" "PMID:29875488" "MEDGEN:338570" @@ -139810,11 +139817,11 @@ "UMLS:C1336939" "PMID:32602732" "UMLS:C4025723" + "SNOMEDCT_US:370999003" + "UMLS:C0948896" "OMIM:611543" "OMIM:258660" "MedDRA:10061323" - "SNOMEDCT_US:370999003" - "UMLS:C0948896" "OMIM:213002" "MESH:C535353" "DOID:0060797" @@ -140061,13 +140068,6 @@ "OMIM:618929" "MEDGEN:1718475" "UMLS:C5394523" - "MEDGEN:102372" - "UMLS:C0162291" - "DOID:12510" - "ICD9:362.84" - "SCTID:26468004" - "ICD10CM:H35.82" - "PMID:28240269" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -140083,6 +140083,14 @@ "UMLS:C0032001" "icd11.foundation:1938573221" "NCIt:C26853" + "MEDGEN:102372" + "UMLS:C0162291" + "DOID:12510" + "ICD9:362.84" + "SCTID:26468004" + "ICD10CM:H35.82" + "PMID:28240269" + "PMID:30659259" "UMLS:C0041178" "CALOHA:TS-1070" "Wikipedia:Trophoblast" @@ -140093,7 +140101,6 @@ "NCIT:C93292" "BTO:0001079" "EV:0100120" - "PMID:30659259" "PMID:37794183" "GARD:7883" "NORD:1844" @@ -140194,6 +140201,7 @@ "MEDGEN:325157" "PMID:36006120" "PMID:37794183" + "Wikipedia:Body_water" "ICD10:S12" "ICD10:T08" "MESH:D016103" @@ -140203,7 +140211,6 @@ "SCTID:50448004" "MONDO:0005309" "MedDRA:10041569" - "Wikipedia:Body_water" "Orphanet:466722" "MEDGEN:1800430" "UMLS:C5569007" @@ -140644,7 +140651,6 @@ "PMID:29875488" "SNOMEDCT_US:80825009" "UMLS:C0265783" - "ICD10:N04.3" "DOID:11285" "SCTID:74225001" "MedDRA:10077336" @@ -140663,6 +140669,7 @@ "PMID:24186868" "KEGG:C00338" "PMID:24506665" + "ICD10:N04.3" "DOID:217" "ICD9:521.01" "MEDGEN:540214" @@ -140965,12 +140972,12 @@ "MEDGEN:272370" "NCIT:C6179" "DOID:5306" + "OMIM:617882" "NANDO:2200197" "MEDGEN:358271" "NANDO:2100031" "OMIM:600807" "UMLS:C1869116" - "OMIM:617882" "EFO:1000548" "SCTID:93527005" "MONDO:0006429" @@ -141411,8 +141418,8 @@ "PMID:18766167" "Beilstein:0764984" "ChemIDplus:5786-21-0" - "SNOMEDCT:96221003" "HMDB:HMDB0014507" + "SNOMEDCT:96221003" "DrugBank:DB00363" "Patent:NL293201" "Patent:US3539573" @@ -141606,7 +141613,6 @@ "MEDGEN:181761" "NCIT:C27342" "SCTID:723097009" - "PMID:33575800" "SNOMEDCT:387266001" "PMID:19495517" "NCIt:C61615" @@ -141637,6 +141643,7 @@ "Reaxys:5915117" "CAS:37517-28-5" "PMID:25339395" + "PMID:33575800" "PMID:30659259" "SNOMEDCT:440907003" "MeSH:D012247" @@ -141982,6 +141989,9 @@ "GARD:1222" "MEDGEN:320287" "UMLS:C1834207" + "NCIT:C43594" + "MEDGEN:313658" + "UMLS:C1709865" "Orphanet:2089" "GARD:2513" "NANDO:2200537" @@ -141993,9 +142003,6 @@ "NANDO:1200838" "SCTID:237964009" "NANDO:1200824" - "NCIT:C43594" - "MEDGEN:313658" - "UMLS:C1709865" "PMID:29875488" "PMID:35347128" "NCIT:C7528" @@ -142275,9 +142282,9 @@ "UMLS:C2676271" "OMIM:612422" "MEDGEN:382807" + "PMID:28928442" "RRID:CVCL_0299" "BTO:0005964" - "PMID:28928442" "PMID:29875488" "ZFA:0005168" "SCTID:272023004" @@ -142535,7 +142542,6 @@ "PMID:29875488" "PMID:28240269" "PMID:33634981" - "ICD10:G11.4" "PMID:28240269" "UMLS:C1857682" "Orphanet:254925" @@ -142550,6 +142556,7 @@ "MEDGEN:1801322" "GARD:13168" "Orphanet:454887" + "ICD10:G11.4" "Orphanet:206707" "GARD:21857" "MONDO:0018628" @@ -142631,13 +142638,13 @@ "ICD9:362.10" "icd11.foundation:1216073790" "GARD:18912" - "OMIM:607371" - "ICD10:Q87.8" "PMID:37794183" "OMIM:602613" "MESH:C566514" "MEDGEN:400685" "UMLS:C1865117" + "OMIM:607371" + "ICD10:Q87.8" "SCTID:254601002" "UMLS:C0345906" "DOID:270" @@ -143264,8 +143271,6 @@ "FMA:61884" "MBA:351" "EFO:0001971" - "UMLS:C4021591" - "UMLS:C1861621" "SCTID:126583006" "MeSH:D005266" "MONDO:0003505" @@ -143273,6 +143278,8 @@ "DOID:5546" "UMLS:C2362822" "MEDGEN:1843484" + "UMLS:C4021591" + "UMLS:C1861621" "MeSH:D009069" "SCTID:60342002" "NCIT:C116757" @@ -143706,6 +143713,7 @@ "MEDGEN:268571" "PMID:29875488" "PMID:29875488" + "PMID:35347128" "Reaxys:7641807" "LIPID_MAPS_instance:LMFA08040010" "MEDGEN:930195" @@ -143713,7 +143721,6 @@ "Orphanet:228415" "SCTID:719665003" "GARD:20595" - "PMID:35347128" "icd11.foundation:1010745722" "Orphanet:97360" "NORD:1673" @@ -144243,7 +144250,6 @@ "Orphanet:1431" "ICD9:333.5" "SCTID:49949003" - "PMID:28928442" "UMLS:C3495589" "MEDGEN:501210" "MESH:C000596385" @@ -144255,13 +144261,14 @@ "DOID:0111404" "ICD9:520.5" "ICD9:362.75" - "Orphanet:164001" + "PMID:28928442" "DOID:0070347" "GARD:17509" "Orphanet:330050" "MEDGEN:482290" "OMIM:614388" "UMLS:C3280660" + "Orphanet:164001" "TGEMO:00035" "MGI:2165020" "RRID:CVCL_0508" @@ -144323,6 +144330,7 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" + "PMID:35347128" "PMID:28240269" "PMID:24816252" "UMLS:C4025279" @@ -144354,7 +144362,6 @@ "Orphanet:90114" "UMLS:C5680178" "MEDGEN:1826161" - "PMID:35347128" "PMID:23733158" "PMID:22770225" "MetaCyc:CHOLINE" @@ -144396,8 +144403,8 @@ "KEGG:D07690" "OMIM:192200" "MEDGEN:21827" - "MESH:D014648" "SCTID:128060009" + "MESH:D014648" "ICD9:454.9" "ICD9:456.8" "NCIT:C35114" @@ -144883,10 +144890,10 @@ "ICD9:239.7" "UMLS:C0268127" "MedDRA:10070969" - "PMID:29875488" "SNOMEDCT:255554000" "NCIt:C45874" "MAT:0000487" + "PMID:29875488" "MONDO:0000557" "ICD10:G11" "GARD:20286" @@ -145101,10 +145108,6 @@ "SAEL:120" "MAT:0000129" "OBI:1110046" - "OMIM:619248" - "MEDGEN:343940" - "UMLS:C1852989" - "ZFA:0005077" "UMLS:C0376670" "MESH:D019512" "SCTID:445507008" @@ -145113,6 +145116,10 @@ "MEDGEN:84027" "MeSH:D019512" "MONDO:0003232" + "OMIM:619248" + "MEDGEN:343940" + "UMLS:C1852989" + "ZFA:0005077" "PMID:28235828" "PMID:28240269" "MESH:D058249" @@ -145362,6 +145369,7 @@ "MESH:C537849" "GARD:7224" "NORD:1514" + "PMID:30659259" "NCIT:C7488" "EFO:0003866" "SCTID:126675008" @@ -145370,7 +145378,6 @@ "MEDGEN:18296" "UMLS:C0030470" "MONDO:0005289" - "PMID:30659259" "PMID:24816252" "MEDGEN:1648487" "OMIM:618090" @@ -145392,14 +145399,14 @@ "MEDGEN:1826053" "UMLS:C5679787" "Orphanet:207085" - "UMLS:C0343108" - "ICD10:Q87.8" - "MeSH:C537066" - "OMIM:136300" " CLO:0050508" "BTO:0000298" "CLO:0002597" "RRID:CVCL_0224" + "UMLS:C0343108" + "ICD10:Q87.8" + "MeSH:C537066" + "OMIM:136300" "ICD10:A87" "NCIT:C118298" "ICD9:047.9" @@ -145663,8 +145670,8 @@ "CiteXplore:22139435" "PMID:22289589" "CiteXplore:21879312" - "CiteXplore:22273461" "CiteXplore:22289589" + "CiteXplore:22273461" "CiteXplore:21447440" "PMID:21938469" "ChEMBL:138580" @@ -146174,9 +146181,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" - "PMID:28240269" "OMIM:611228" "ICD10:G60.0" + "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -146281,11 +146288,6 @@ "UMLS:C5676945" "OMIM:619799" "DOID:0070565" - "MEDGEN:272546" - "DOID:3923" - "NCIT:C6504" - "UMLS:C1333298" - "MONDO:0006539" "UMLS:C0268596" "Orphanet:26791" "GARD:6523" @@ -146303,6 +146305,11 @@ "ONCOTREE:VYST" "DOID:1910" "MEDGEN:234985" + "MEDGEN:272546" + "DOID:3923" + "NCIT:C6504" + "UMLS:C1333298" + "MONDO:0006539" "OMIM:301029" "PMID:24510096" "NCIT:C26891" @@ -146362,8 +146369,6 @@ "UMLS:C0262404" "ICD9:331.9" "SCTID:418143002" - "SNOMEDCT_US:301348000" - "UMLS:C0578038" "MEDGEN:18211" "ICD9:731.2" "SCTID:203357004" @@ -146373,6 +146378,8 @@ "UMLS:C0029412" "icd11.foundation:1325516156" "MESH:D010005" + "SNOMEDCT_US:301348000" + "UMLS:C0578038" "SCTID:235073000" "UMLS:C0341024" "GARD:15617" @@ -146451,6 +146458,7 @@ "NCIT:C3065" "NCIt:C92258" "SNOMEDCT:313995005" + "NCIt:C38003" "DOID:864" "SNOMEDCT:61599003" "NCIT:C38003" @@ -146462,7 +146470,6 @@ "ICD10:I80" "MeSH:D010689" "SCTID:61599003" - "NCIt:C38003" "PMID:24578530" "SNOMEDCT_US:267258002" "SNOMEDCT_US:276610007" @@ -146482,10 +146489,10 @@ "UMLS:C1333456" "ICD10:Q82" "PMID:35347128" - "PMID:29875488" "RRID:CVCL_1697" "BTO:0004216" "CLO:0009031" + "PMID:29875488" "DOID:4921" "UMLS:C1334577" "MONDO:0005506" @@ -146678,6 +146685,7 @@ "PMID:19110999" "PMID:8347144" "HMDB:HMDB0029377" + "PMID:38565889" "OMIM:165660" "MESH:C537138" "UMLS:C1833792" @@ -146685,7 +146693,6 @@ "ICD10:C41.9" "Orphanet:2760" "GARD:0004129" - "PMID:38565889" "PMID:28525603" "PMID:35347128" "PMID:37794183" @@ -147055,8 +147062,8 @@ "MA:0000268" "EHDAA:9037" "UMLS:C0015426" - "EV:0100338" "SCTID:265782007" + "EV:0100338" "UMLS:C4020870" "NANDO:1200589" "MEDGEN:140741" @@ -147161,6 +147168,8 @@ "NCIT:C142173" "PMID:7528862" "RRID:CVCL_4802" + "UMLS:C0268517" + "ICD10:E72.8" "MESH:C566908" "NCIT:C148461" "UMLS:C4305153" @@ -147168,8 +147177,6 @@ "Orphanet:171680" "OMIM:611603" "MEDGEN:930822" - "UMLS:C0268517" - "ICD10:E72.8" "PMID:35668104" "SNOMEDCT:49370004" "NCIt:C25230" @@ -147454,16 +147461,15 @@ "MedDRA:10043465" "OMIM:611174" "PMID:19296854" - "MA:0001809" - "EMAPA:37584" - "MA:0001810" "GARD:10881" "MEDGEN:462552" "ICD10CM:H35.5" "OMIM:613835" "UMLS:C3151202" "DOID:0110079" - "PMID:33634981" + "MA:0001809" + "EMAPA:37584" + "MA:0001810" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" @@ -147471,6 +147477,7 @@ "OMIM:268400" "NCIT:C178827" "MEDGEN:1684753" + "PMID:33634981" "PMID:25147954" "UMLS:C1306663" "MEDGEN:727129" @@ -147944,6 +147951,7 @@ "LINCS:LSM-1755" "CAS:149649-22-9" "ChEMBL:134432" + "PMID:28240269" "GARD:1567" "NCIT:C131429" "MEDGEN:96080" @@ -147956,7 +147964,6 @@ "NANDO:2201368" "Orphanet:1513" "OMIM:218300" - "PMID:28240269" "PMID:37794183" "PMID:29403010" "SCTID:724090001" @@ -148109,6 +148116,8 @@ "PMID:28240269" "PMID:37794183" "PMID:33204752" + "PMID:23823483" + "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -148120,8 +148129,6 @@ "CAS:87734-68-7" "PMID:25700090" "HMDB:HMDB0034423" - "PMID:23823483" - "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -148159,6 +148166,11 @@ "GARD:8529" "MESH:C537720" "HP:0100746" + "NCIt:C50564" + "ICD10:P20" + "MeSH:D005311" + "SNOMEDCT:276638004" + "Wikipedia:Intrauterine_hypoxia" "UMLS:C0399526" "OMIM:176700" "Orphanet:2964" @@ -148170,11 +148182,6 @@ "MEDGEN:462643" "UMLS:C3151293" "OMIM:613881" - "NCIt:C50564" - "ICD10:P20" - "MeSH:D005311" - "SNOMEDCT:276638004" - "Wikipedia:Intrauterine_hypoxia" "SCTID:29212009" "MEDGEN:68632" "UMLS:C0236664" @@ -148499,6 +148506,8 @@ "MEDGEN:220969" "PMID:36168886" "ICD10:D81.2" + "PMID:24248345" + "PMID:30586455" "GARD:17313" "DOID:0080060" "MEDGEN:482082" @@ -148507,8 +148516,6 @@ "Orphanet:284282" "SNOMEDCT:25510005" "MeSH:D006350" - "PMID:24248345" - "PMID:30586455" "DOID:0110185" "OMIM:214400" "UMLS:C1859198" @@ -148711,8 +148718,8 @@ "MEDGEN:10592" "ICD9:332.1" "MeSH:D010302" - "ICD10:G21" "UMLS:C0030569" + "ICD10:G21" "DOID:13548" "MESH:D010302" "MONDO:0006966" @@ -148871,13 +148878,13 @@ "UMLS:C1864695" "MEDGEN:400593" "GARD:12447" + "PMID:23823483" "Beilstein:8331263" "MeSH:C087876" "NCIt:C68370" "KEGG:C18727" "CAS:120928-09-8" "PPDB:292" - "PMID:23823483" "PMID:37794183" "PMID:37794183" "DOID:2598" @@ -149531,8 +149538,8 @@ "Reactome:R-HSA-9841189" "MetaCyc:ALPHAGALACTOSID-RXN" "PMID:26816383" - "PMID:34814699" "PMID:28240269" + "PMID:34814699" "ZFA:0000385" "NCIT:C12746" "EMAPA:37664" @@ -149796,6 +149803,7 @@ "Orphanet:238455" "NCIt:C72030" "MeSH:D028463" + "OMIM:601351" "ICD10:C67.8" "ICD10:C67.6" "GARD:11923" @@ -149817,7 +149825,6 @@ "ICD10:C67.1" "ONCOTREE:SCBC" "Orphanet:284400" - "OMIM:601351" "MEDGEN:1825987" "UMLS:C5681538" "GARD:19349" @@ -149837,6 +149844,8 @@ "ONCOTREE:INTS" "MEDGEN:317791" "NCIT:C53677" + "OMIM:615625" + "ICD10:G11.4" "SCTID:718559000" "OMIM:602875" "Orphanet:40" @@ -149845,8 +149854,11 @@ "MEDGEN:355199" "UMLS:C1864356" "GARD:507" - "OMIM:615625" - "ICD10:G11.4" + "OMIM:615771" + "OMIM:615763" + "OMIM:615412" + "OMIM:615411" + "OMIM:615282" "SNOMEDCT:65863008" "ZFA:0009090" "NIFSTD:sao1231384859" @@ -149856,11 +149868,6 @@ "MAT:0000159" "CL:0000147" "MFO:0003360" - "OMIM:615771" - "OMIM:615763" - "OMIM:615412" - "OMIM:615411" - "OMIM:615282" "PMID:7678184" "MONDO:0005490" "DrugBank:DB01345" @@ -150451,11 +150458,11 @@ "NORD:1279" "Orphanet:576" "DOID:0080070" - "ICD10:G31.8" "PMID:35347128" - "SNOMEDCT:113791007" + "ICD10:G31.8" "PMID:22770225" "PMID:19347970" + "SNOMEDCT:113791007" "OMIM:620748" "PMID:29875488" "SNOMEDCT:128053003" @@ -150843,11 +150850,11 @@ "UMLS:C0036996" "MO:890" "PMID:29875488" - "PMID:37794183" "UMLS:C1335994" "DOID:6880" "MEDGEN:234788" "NCIT:C5336" + "PMID:37794183" "PMID:37794183" "PMID:23924614" "PMID:37794183" @@ -150984,10 +150991,10 @@ "ZFA:0000949" "PMID:35347128" "PMID:35668104" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "SNOMEDCT:24028007" "NCIt:C25228" "MAT:0000492" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "MESH:D009140" "ICD10:M53" "ICD9:729.99" @@ -150999,14 +151006,14 @@ "ICD10:M96" "MEDGEN:6471" "MONDO:0002081" - "RRID:CVCL_2047" - "CLO:0003406" "Orphanet:1018" "MESH:C537113" "MEDGEN:333429" "GARD:2432" "OMIM:308940" "UMLS:C1839884" + "RRID:CVCL_2047" + "CLO:0003406" "SNOMEDCT:112278004" "PMID:37164013" "icd11.foundation:1251664337" @@ -151303,13 +151310,13 @@ "BTO:0000232" "DHBA:10656" "TAO:0000100" + "ICD10:Q82.8" + "OMIM:618625" "Orphanet:276223" "UMLS:C5679780" "MEDGEN:1842694" "SCTID:67854007" "GARD:21047" - "ICD10:Q82.8" - "OMIM:618625" "KEGG COMPOUND:C00955" "HMDB:0003447" "SCTID:428054006" @@ -151570,11 +151577,11 @@ "MESH:C567034" "UMLS:C1970269" "icd11.foundation:809856670" + "PMID:29875488" "OMIMPS:203655" "SNOMEDCT:112113009" "NCIt:C2289" "MeSH:D012739" - "PMID:29875488" "ICD10:R19" "ICD10:Q45" "BTO:0001547" @@ -151619,8 +151626,6 @@ "OMIM:270230" "NCIT:C98583" "PMID:35347128" - "KEGG COMPOUND:C00104" - "HMDB:0003335" "PMID:35347128" "UMLS:C4551895" "OMIM:120100" @@ -151636,6 +151641,8 @@ "SCTID:55056006" "GTR:AN0932921" "Orphanet:659694" + "KEGG COMPOUND:C00104" + "HMDB:0003335" "NCIt:C3890" "MedDRA:10021143" "MP:0005039" @@ -152228,9 +152235,6 @@ "UMLS:C0346902" "DOID:6098" "icd11.foundation:610018988" - "BTO:0003261" - "RRID:CVCL_3283" - "CLO:0003663" "PMID:24816252" "DOID:0060430" "GARD:12388" @@ -152239,6 +152243,9 @@ "Orphanet:370079" "MEDGEN:766321" "UMLS:C3553407" + "BTO:0003261" + "RRID:CVCL_3283" + "CLO:0003663" "NCIT:C4800" "MedDRA:10057407" "MEDGEN:101180" @@ -152347,6 +152354,13 @@ "MEDGEN:1843487" "DOID:0080010" "UMLS:C0477681" + "MedDRA:10071161" + "NCIt:C4847" + "SCTID:308870004" + "UMLS:C1302363" + "NCIT:C4847" + "MONDO:0006151" + "MEDGEN:224903" "MESH:C537987" "DOID:0110149" "OMIM:607734" @@ -152356,13 +152370,6 @@ "icd11.foundation:1160290076" "MEDGEN:334337" "Orphanet:101085" - "MedDRA:10071161" - "NCIt:C4847" - "SCTID:308870004" - "UMLS:C1302363" - "NCIT:C4847" - "MONDO:0006151" - "MEDGEN:224903" "PMID:35347128" "PMID:30366209" "LIPID_MAPS_instance:LMGP02050011" @@ -152520,8 +152527,8 @@ "DOID:0060232" "SCTID:764810000" "PMID:29875488" - "PMID:28369058" "NCIt:C112324" + "PMID:28369058" "PMID:36168886" "MeSH:D006956" "SNOMEDCT:38101003" @@ -152708,8 +152715,8 @@ "DOID:0050592" "Orphanet:474" "SCTID:75049004" - "PMID:35347128" "ICD10:G31.8" + "PMID:35347128" "OMIM:609254" "OMIM:266900" "OMIM:606996" @@ -152723,13 +152730,13 @@ "OMIM:616629" "MedDRA:10084074" "PMID:29875488" - "UMLS:C4025875" "DOID:0111478" "MEDGEN:863097" "Orphanet:420728" "UMLS:C4014660" "GARD:17699" "OMIM:615917" + "UMLS:C4025875" "GARD:17125" "UMLS:C2751090" "MEDGEN:416465" @@ -152891,6 +152898,10 @@ "Orphanet:1506" "GARD:18727" "PMID:29875488" + "UMLS:C2064434" + "NCIT:C5860" + "DOID:3254" + "MEDGEN:473530" "MedDRA:10064963" "OMIM:608328" "ICD10:Q87.0" @@ -152898,10 +152909,6 @@ "UMLS:C0265313" "MeSH:D056846" "OMIM:277600" - "UMLS:C2064434" - "NCIT:C5860" - "DOID:3254" - "MEDGEN:473530" "Patent:BE872585" "CiteXplore:21969105" "PMID:22059694" @@ -153231,7 +153238,6 @@ "SNOMEDCT_US:7973008" "Orphanet:276234" "SNOMEDCT:433579005" - "UMLS:C0015027" "NCIT:C12711" "Wikipedia:Ethmoid_bone" "VHOG:0001317" @@ -153242,6 +153248,7 @@ "BTO:0004140" "MA:0001483" "GAID:212" + "UMLS:C0015027" "UMLS:C5575558" "MEDGEN:1826002" "GARD:17437" @@ -153255,6 +153262,7 @@ "CAS:80-68-2" "PMID:11379295" "PMID:37794183" + "PMID:29875488" "UMLS:C4024727" "MIAA:0000140" "GAID:69" @@ -153272,7 +153280,6 @@ "UMLS:C1835492" "GARD:18245" "OMIM:150400" - "PMID:29875488" "PMID:35013273" "Orphanet:178364" "OMIM:610125" @@ -154719,9 +154726,9 @@ "SNOMEDCT_US:36440009" "SNOMEDCT_US:432788009" "UMLS:C2315100" + "PMID:35995766" "UMLS:C0151937" "SNOMEDCT_US:415749005" - "PMID:35995766" "MEDGEN:1645968" "UMLS:C4693391" "OMIM:617864" @@ -154854,6 +154861,7 @@ "PMID:27867577" "ICD9:93.90" "ZFA:0001024" + "PMID:29875488" "MEDGEN:67028" "UMLS:C0242994" "ICD9:079.81" @@ -154863,7 +154871,6 @@ "MESH:D018778" "SCTID:359761005" "DOID:2880" - "PMID:29875488" "SCTID:422588002" "DOID:50152" "DOID:3240" @@ -154933,11 +154940,11 @@ "UMLS:C0268296" "OMIM:264300" "ICD10:E29.1" + "PMID:33204752" "MEDDRA:10002512" "SNOMEDCT_US:14662005" "UMLS:C0003028" "SNOMEDCT_US:39659002" - "PMID:33204752" "ICD10:Q79.6" "RRID:CVCL_1168" "CLO:0002709" @@ -155382,8 +155389,6 @@ "UMLS:C0268575" "GARD:465" "RRID:CVCL_2458" - "UMLS:CN205528" - "Orphanet:68347" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -155393,6 +155398,8 @@ "OMIM:612233" "NANDO:1200581" "GARD:17294" + "UMLS:CN205528" + "Orphanet:68347" "PMID:33634981" "PubChem:597" "KEGG COMPOUND:C00380" @@ -155431,6 +155438,7 @@ "ZFA:0000279" "XAO:0000057" "TAO:0000279" + "PMID:35347128" "UMLS:C0227518" "Wikipedia:Lobules_of_liver" "NCIT:C32732" @@ -155462,7 +155470,6 @@ "KEGG:D02358" "CAS:51384-51-1" "HMDB:HMDB0001932" - "PMID:35347128" "PMID:35668104" "PMID:29875488" "BTO:0002574" @@ -155700,9 +155707,9 @@ "OMIMPS:243180" "UMLS:C0266834" "SCTID:280574000" + "PMID:35995766" "RRID:CVCL_4723" "CLO:0007919" - "PMID:35995766" "DOID:0111519" "GARD:17518" "UMLS:C3554599" @@ -155882,6 +155889,7 @@ "UMLS:C1852454" "OMIM:123560" "ICD10:Q69.2" + "PMID:35347128" "NCIT:C6637" "DOID:5560" "UMLS:C1334669" @@ -155890,7 +155898,6 @@ "EFO:0003424" "ZFA:0000063" "TAO:0000063" - "PMID:35347128" "PMID:28369058" "PMID:36168886" "PMID:30134952" @@ -156063,9 +156070,9 @@ "Orphanet:1888" "MESH:C565065" "ICD10:E88.1" - "PMID:30992453" "SNOMEDCT_US:164947007" "UMLS:C0600125" + "PMID:30992453" "SNOMEDCT_US:236071009" "UMLS:C0401151" "DOID:0112160" @@ -156103,6 +156110,7 @@ "ICD9:117.9" "ICD10:E76.2" "OMIM:252940" + "PMID:29875488" "HMDB:HMDB0004645" "AGR:IND607176621" "PMID:16857740" @@ -156144,7 +156152,6 @@ "MEDGEN:152890" "DOID:7587" "NCIT:C4945" - "PMID:29875488" "Wikipedia:Abortion" "ICD10:O06" "ICD10:O04" @@ -156400,7 +156407,6 @@ "DOID:0111235" "GARD:15927" "NIFSTD:birnlex_152" - "PMID:23823483" "ICD9:121.8" "MESH:D004011" "MedDRA:10080485" @@ -156411,6 +156417,7 @@ "SCTID:105668007" "UMLS:C0012102" "DOID:1219" + "PMID:23823483" "FMA:58634" "NCIt:C12760" "MeSH:D009898" @@ -156466,6 +156473,8 @@ "MedDRA:10055608" "MeSH:D006450" "ICD10:Q87.0" + "ICD10:D81.2" + "OMIM:608971" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" @@ -156479,10 +156488,8 @@ "Orphanet:488613" "MEDGEN:1798905" "UMLS:C5567482" - "ICD10:D81.2" - "OMIM:608971" - "NCIT:C131504" "MedDRA:10044055" + "NCIT:C131504" "UMLS:C3150901" "SCTID:763367009" "GARD:17378" @@ -156512,8 +156519,8 @@ "icd11.foundation:2048216430" "MESH:D007952" "PMID:30324795" - "PMID:24705597" "PMID:37794183" + "PMID:24705597" "OMIM:616028" "MeSH:C538225" "OMIM:614814" @@ -156571,13 +156578,13 @@ "icd11.foundation:1867840545" "SNOMEDCT:402415001" "MedDRA:10062908" + "PMID:28240269" "UMLS:C4274732" "Orphanet:85200" "SCTID:715654001" "GARD:19052" "MEDGEN:903166" "icd11.foundation:185911418" - "PMID:28240269" "DOID:0060051" "PMID:35995766" "icd11.foundation:1276091756" @@ -156802,13 +156809,13 @@ "ICD9:696.4" "OMIM:173200" "MedDRA:10035116" + "DOID:0070519" + "OMIM:266100" "Orphanet:209867" "MEDGEN:322821" "icd11.foundation:1308905567" "GARD:17104" "UMLS:C1836081" - "DOID:0070519" - "OMIM:266100" "Orphanet:309833" "UMLS:C0236989" "NCIT:C92202" @@ -156881,6 +156888,7 @@ "UMLS:C0153618" "NCIT:C7525" "MEDGEN:57793" + "PMID:37794183" "MESH:D058747" "ICD9:759.89" "Orphanet:138" @@ -156896,7 +156904,6 @@ "icd11.foundation:52086532" "DOID:0050834" "MEDGEN:75567" - "PMID:37794183" "EFO:0000799" "BTO:0001492" "VSAO:0000075" @@ -156905,13 +156912,13 @@ "EMAPA:37283" "UMLS:C0598782" "NCIT:C61460" - "XAO:0000218" "MESH:D005121" + "XAO:0000218" "Wikipedia:Appendage" "EV:0100155" + "MIAA:0000023" "HAO:0000144" "AEO:0000193" - "MIAA:0000023" "BILA:0000018" "MAT:0000023" "CARO:0010003" @@ -157488,11 +157495,6 @@ "MEDGEN:66723" "SCTID:15170009" "NCIT:C27016" - "UMLS:C1832916" - "MedDRA:10079205" - "ICD10:I45.8" - "MeSH:C536962" - "OMIM:601005" "UMLS:C0282207" "MedDRA:10062907" "OMIM:175500" @@ -157508,6 +157510,11 @@ "UMLS:C0342284" "ICD10:E31.8" "MeSH:C537902" + "UMLS:C1832916" + "MedDRA:10079205" + "ICD10:I45.8" + "MeSH:C536962" + "OMIM:601005" "OMIM:618195" "UMLS:C4748658" "GARD:16306" @@ -157713,8 +157720,8 @@ "DOID:13081" "MEDGEN:146343" "http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html" - "SCTID:93473009" "EFO:1000707" + "SCTID:93473009" "NCIT:C8540" "MONDO:0006557" "MeSH:D008382" @@ -158236,17 +158243,17 @@ "PMID:35347128" "Orphanet:98565" "PMID:29875488" + "PMID:37164013" "icd11.foundation:1623148241" "DOID:11669" "UMLS:C0155213" "ICD9:374.54" "SCTID:79830009" "MEDGEN:509853" - "PMID:37164013" + "PMID:23823483" "CLO:0009853" "BTO:0004620" "RRID:CVCL_1844" - "PMID:23823483" "UMLS:C0234376" "UMLS:C4020856" "SNOMEDCT_US:30721006" @@ -158708,11 +158715,11 @@ "MEDGEN:1842552" "icd11.foundation:1833416892" "ICD10CM:E83.1" - "ICD10:Q87.8" - "OMIM:280000" "MeSH:D001827" "MedDRA:10005891" "NCIt:C25347" + "ICD10:Q87.8" + "OMIM:280000" "FBbt:00005533" "DSSTox_Generic_SID:40423" "OMIM:131220" @@ -158966,8 +158973,6 @@ "icd11.foundation:1191822552" "UMLS:C2673609" "MEDGEN:382142" - "OMIM:260650" - "ICD10:E72.8" "OMIM:617121" "ICD10:H35.5" "ICD10:Q04.3" @@ -158977,6 +158982,8 @@ "OMIM:614970" "OMIM:617562" "PMID:29875488" + "OMIM:260650" + "ICD10:E72.8" "NCIt:C53310" "MeSH:D015390" "MEDGEN:1631133" @@ -159200,6 +159207,7 @@ "MeSH:D042726" "SNOMEDCT:113674000" "NCIt:C86226" + "PMID:37794183" "ICD10:E24.0" "Orphanet:99892" "MONDO:0020528" @@ -159216,7 +159224,6 @@ "MESH:D047748" "GARD:19699" "SCTID:190502001" - "PMID:37794183" "PMID:28240269" "ICD10:Q87.8" "OMIM:600302" @@ -159278,8 +159285,8 @@ "MEDGEN:40258" "NCIT:C26718" "icd11.foundation:1712178777" - "MESH:D002761" "ICD10CM:K83.0" + "MESH:D002761" "DOID:9446" "SCTID:82403002" "DOID:6691" @@ -159602,11 +159609,6 @@ "Orphanet:98794" "UMLS:C5566334" "GARD:19577" - "MEDGEN:934746" - "OMIM:616950" - "DOID:0070172" - "GARD:16173" - "UMLS:C4310779" "Reaxys:30233" "PMID:17449064" "PMID:8469046" @@ -159627,6 +159629,11 @@ "DrugBank:DB01041" "PMID:18925849" "PMID:21207098" + "MEDGEN:934746" + "OMIM:616950" + "DOID:0070172" + "GARD:16173" + "UMLS:C4310779" "PMID:12135889" "PMID:37596262" "MetaCyc:R17-RXN" @@ -159794,13 +159801,13 @@ "NCIT:C40109" "DOID:3705" "PMID:29875488" - "UMLS:C0271847" "SCTID:19034001" "ICD9:588.81" "MEDGEN:543606" "ICD10CM:N25.81" "DOID:12465" "icd11.foundation:610229783" + "UMLS:C0271847" "RRID:CVCL_1685" "BTO:0005855" "CLO:0008969" @@ -159932,12 +159939,12 @@ "DOID:0080098" "OMIM:617114" "PMID:26160806" + "PMID:24816252" "ZFA:0000031" "MEDGEN:1778557" "UMLS:C5543339" "Orphanet:662234" "OMIM:619312" - "PMID:24816252" "UMLS:C0032339" "MedDRA:10052510" "OMIM:268400" @@ -160197,9 +160204,6 @@ "ICD9:210.4" "NCIT:C4411" "MEDGEN:87508" - "PMID:29875488" - "Orphanet:459056" - "OMIM:616680" "OMIM:602473" "DOID:0060640" "MEDGEN:355966" @@ -160209,12 +160213,15 @@ "GARD:2198" "Orphanet:51188" "UMLS:C1865349" + "Orphanet:459056" + "OMIM:616680" + "PMID:29875488" + "GARD:17347" + "Orphanet:293910" "MEDGEN:1640757" "DOID:0070199" "UMLS:C4551973" "OMIM:254130" - "GARD:17347" - "Orphanet:293910" "UMLS:C4020900" "PMID:29875488" "http://purl.obolibrary.org/obo/SCDO_1000452" @@ -160553,9 +160560,9 @@ "SCTID:62909004" "DOID:1570" "HP:0000656" + "PMID:37794183" "OMIM:271510" "ICD10:Q77.7" - "PMID:37794183" "UMLS:C5680623" "GARD:19900" "Orphanet:139009" @@ -160975,9 +160982,9 @@ "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" - "PMID:28369058" "PMID:29875488" "PMID:28240269" + "PMID:28369058" "NCIT:C6389" "DOID:3445" "MEDGEN:235088" @@ -161021,8 +161028,8 @@ "EFO:0000461" "GAID:407" "FMA:69067" - "VSAO:0000178" "ZFA:0001105" + "VSAO:0000178" "OMIM:192315" "Orphanet:108965" "UMLS:C5562024" @@ -161081,10 +161088,6 @@ "OMIM:614424" "OMIM:618161" "OMIM:614615" - "UMLS:C1842870" - "OMIM:607872" - "ICD10:Q93.5" - "MedDRA:10082398" "Drug_Central:852" "NCIt:C28982" "PMID:11925051" @@ -161107,8 +161110,10 @@ "HMDB:HMDB0014967" "UMLS:CN205736" "Orphanet:77258" - "ORCID:0000-0001-8222-008X" - "PMID:33462484" + "UMLS:C1842870" + "OMIM:607872" + "ICD10:Q93.5" + "MedDRA:10082398" "ONCOTREE:DESM" "MEDGEN:232127" "UMLS:C1333280" @@ -161125,6 +161130,8 @@ "MESH:D001917" "SCTID:181002002" "Wikipedia:Brachial_plexus" + "ORCID:0000-0001-8222-008X" + "PMID:33462484" "OMIM:619467" "MEDGEN:1794162" "UMLS:C5561952" @@ -161540,22 +161547,22 @@ "SNOMEDCT:19464000" "NCIt:C86199" "PMID:37164013" - "PMID:29875488" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" + "PMID:29875488" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" - "PMID:30476138" - "NCIt:C64856" "DOID:0070249" "MESH:C567831" "MEDGEN:414476" "UMLS:C2751807" "OMIM:612998" "GARD:18206" + "PMID:30476138" + "NCIt:C64856" "MEDGEN:1826028" "GARD:20915" "Orphanet:263756" @@ -161568,12 +161575,6 @@ "UMLS:C1333025" "DOID:6525" "PMID:28240269" - "DOID:0070423" - "UMLS:C4310671" - "GARD:17911" - "Orphanet:496641" - "MEDGEN:934638" - "OMIM:617193" "SCTID:702440000" "NANDO:2201299" "ICD9:270.8" @@ -161585,6 +161586,12 @@ "NANDO:1201033" "Orphanet:35704" "DOID:0050712" + "DOID:0070423" + "UMLS:C4310671" + "GARD:17911" + "Orphanet:496641" + "MEDGEN:934638" + "OMIM:617193" "OMIM:106600" "OMIM:613097" "OMIM:604625" @@ -161783,6 +161790,7 @@ "Orphanet:79147" "MEDGEN:347504" "PMID:29875488" + "MedDRA:10027008" "Orphanet:98795" "GARD:19578" "MEDGEN:1826078" @@ -161813,7 +161821,6 @@ "MedDRA:10064848" "MeSH:D051436" "NANDO:2100008" - "MedDRA:10027008" "MAT:0000400" "XAO:1000008" "WBls:0000023" @@ -161851,8 +161858,6 @@ "MEDGEN:1842344" "GARD:20407" "Orphanet:208593" - "NCIt:C68364" - "MeSH:C049811" "OMIM:251300" "OMIM:617731" "UMLS:C0795949" @@ -161864,6 +161869,8 @@ "OMIM:618349" "OMIM:618347" "OMIM:617730" + "NCIt:C68364" + "MeSH:C049811" "Wikipedia:Heart_development" "icd11.foundation:1699813614" "ICD9:359.89" @@ -161895,11 +161902,11 @@ "DOID:14482" "ICD9:646.80" "PMID:24816252" - "PATO:0001338" "OMIM:606529" "MESH:C564700" "UMLS:C1847865" "MEDGEN:338335" + "PATO:0001338" "DOID:3706" "NCIT:C6265" "UMLS:C1333590" @@ -162405,15 +162412,15 @@ "DOID:0050436" "UMLS:C0524582" "ICD9:759.89" - "Reaxys:10227786" "PMID:29875488" + "NCIt:C26938" + "MedDRA:10016667" + "Reaxys:10227786" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" "NCIT:C4902" "ICD9:211.9" - "NCIt:C26938" - "MedDRA:10016667" "MedDRA:10033266" "MEDGEN:38966" "DOID:5425" @@ -162456,6 +162463,8 @@ "ICDO:8243/3" "NCIT:C3689" "EFO:1000090" + "OMIM:608799" + "ICD10:E77.8" "Wikipedia:Warfarin" "PMID:25393417" "Pesticides:warfarin" @@ -162506,8 +162515,6 @@ "PMID:26114209" "PMID:25828628" "PMID:25842804" - "OMIM:608799" - "ICD10:E77.8" "SNOMEDCT_US:276617005" "SNOMEDCT_US:59576002" "UMLS:C0456070" @@ -162757,8 +162764,8 @@ "ICDO:9053/3" "NCIT:C4282" "DOID:4486" - "MEDGEN:137775" "UMLS:C0334515" + "MEDGEN:137775" "EFO:1000124" "MONDO:0006109" "PMID:35347128" @@ -162899,12 +162906,12 @@ "UMLS:C0694457" "MEDGEN:1843482" "ICD10CM:Q00-Q99" - "PMID:33634981" - "Orphanet:488594" - "OMIM:616907" "UMLS:C2931366" "OMIM:188150" "MeSH:C536904" + "PMID:33634981" + "Orphanet:488594" + "OMIM:616907" "OMIM:259100" "MEDGEN:1641972" "GARD:15216" @@ -162993,7 +163000,6 @@ "ICD10CM:E78.5" "PMID:37164013" "PMID:26068415" - "PMID:35347128" "MAT:0000282" "FMA:7208" "SAEL:53" @@ -163002,6 +163008,7 @@ "BTO:0000620" "MA:0000339" "XAO:0000237" + "PMID:35347128" "UMLS:C0012517" "NORD:705" "DOID:14422" @@ -163383,13 +163390,13 @@ "UMLS:C1853926" "OMIM:605820" "SCTID:702382000" - "PMID:28240269" "CALOHA:TS-0500" "SNOMEDCT:74447004" "BTO:0000667" "FMA:62879" "ZFA:0009158" "NCIt:C12589" + "PMID:28240269" "GARD:8329" "OMIM:256050" "MESH:C535395" @@ -163683,8 +163690,8 @@ "OMIM:259600" "ICD10:M89.5" "Reaxys:13203931" - "MeSH:C006568" "ChemIDplus:6484-52-2 \"CAS Registry Number\"" + "MeSH:C006568" "Reaxys:13203931 \"Reaxys Registry Number\"" "Wikipedia:Ammonium_nitrate" "Wikipedia:Ammonium_nitrate \"Wikipedia\"" @@ -164258,9 +164265,9 @@ "HMDB:HMDB0000244" "NCIt:C72267" "PMID:29875488" - "PMID:37253714" "PMID:30476138" "NCIt:C64810" + "PMID:37253714" "SCTID:77098009" "MESH:D011546" "GARD:21861"