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."