Skip to content

Commit 4c30dbe

Browse files
author
lschriml
committed
- align commits
2 parents dc046b4 + 142c2b4 commit 4c30dbe

File tree

1 file changed

+13
-4
lines changed

1 file changed

+13
-4
lines changed

src/ontology/doid-edit.owl

Lines changed: 13 additions & 4 deletions
Original file line numberDiff line numberDiff line change
@@ -2073,6 +2073,7 @@ Declaration(Class(obo:DOID_0061046))
20732073
Declaration(Class(obo:DOID_0061047))
20742074
Declaration(Class(obo:DOID_0061048))
20752075
Declaration(Class(obo:DOID_0061049))
2076+
Declaration(Class(obo:DOID_0061050))
20762077
Declaration(Class(obo:DOID_0070000))
20772078
Declaration(Class(obo:DOID_0070001))
20782079
Declaration(Class(obo:DOID_0070002))
@@ -42854,16 +42855,24 @@ SubClassOf(obo:DOID_0061048 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
4285442855

4285542856
# Class: obo:DOID_0061049 (autosomal dominant intellectual developmental disorder type FRA12A)
4285642857

42857-
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17236128/") obo:IAO_0000115 obo:DOID_0061049 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.
42858-
42859-
")
42858+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17236128/") obo:IAO_0000115 obo:DOID_0061049 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.")
4286042859
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061049 "MIM:136630")
4286142860
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061049 "disease_ontology")
4286242861
AnnotationAssertion(oboInOwl:id obo:DOID_0061049 "DOID:0061049")
4286342862
AnnotationAssertion(rdfs:label obo:DOID_0061049 "autosomal dominant intellectual developmental disorder type FRA12A")
4286442863
SubClassOf(obo:DOID_0061049 obo:DOID_0060307)
4286542864
SubClassOf(obo:DOID_0061049 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
4286642865

42866+
# Class: obo:DOID_0061050 (autosomal dominant intellectual developmental disorder 60 with seizures)
42867+
42868+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31104773/") obo:IAO_0000115 obo:DOID_0061050 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.")
42869+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061050 "MIM:618587")
42870+
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061050 "MRD60")
42871+
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061050 "disease_ontology")
42872+
AnnotationAssertion(oboInOwl:id obo:DOID_0061050 "DOID:0061050")
42873+
AnnotationAssertion(rdfs:label obo:DOID_0061050 "autosomal dominant intellectual developmental disorder 60 with seizures")
42874+
SubClassOf(obo:DOID_0061050 obo:DOID_0060307)
42875+
4286742876
# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
4286842877

4286942878
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")
@@ -56187,8 +56196,8 @@ SubClassOf(obo:DOID_0080408 obo:DOID_0050567)
5618756196

5618856197
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1651563") obo:IAO_0000115 obo:DOID_0080409 "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.")
5618956198
AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0080409 "DOID:8269")
56190-
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "MIM:175100")
5619156199
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "ICDO:8220/3")
56200+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "MIM:175100")
5619256201
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080409 "adenocarcinoma in adenomatous polyposis coli")
5619356202
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080409 "disease_ontology")
5619456203
AnnotationAssertion(oboInOwl:id obo:DOID_0080409 "DOID:0080409")

0 commit comments

Comments
 (0)