Skip to content

Commit d2f2e52

Browse files
committed
Add 'Fliedner-Zweier syndrome' (DOID:0070653)
Closes #1511
1 parent 5bc33ca commit d2f2e52

File tree

1 file changed

+14
-0
lines changed

1 file changed

+14
-0
lines changed

src/ontology/doid-edit.owl

Lines changed: 14 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -2855,6 +2855,7 @@ Declaration(Class(obo:DOID_0070648))
28552855
Declaration(Class(obo:DOID_0070649))
28562856
Declaration(Class(obo:DOID_0070650))
28572857
Declaration(Class(obo:DOID_0070651))
2858+
Declaration(Class(obo:DOID_0070653))
28582859
Declaration(Class(obo:DOID_0080000))
28592860
Declaration(Class(obo:DOID_0080001))
28602861
Declaration(Class(obo:DOID_0080005))
@@ -53420,6 +53421,19 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070651 "MIM:619323")
5342053421
SubClassOf(obo:DOID_0070651 obo:DOID_225)
5342153422
SubClassOf(obo:DOID_0070651 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
5342253423

53424+
# Class: obo:DOID_0070653 (Fliedner-Zweier syndrome)
53425+
53426+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32730804/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36333968/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37394306/") obo:IAO_0000115 obo:DOID_0070653 "A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.")
53427+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070653 "MIM:620511")
53428+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070653 "ORDO:528084")
53429+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070653 "SCAF4-related syndromic intellectual disability")
53430+
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070653 "disease_ontology")
53431+
AnnotationAssertion(oboInOwl:id obo:DOID_0070653 "DOID:0070653")
53432+
AnnotationAssertion(rdfs:label obo:DOID_0070653 "Fliedner-Zweier syndrome")
53433+
AnnotationAssertion(skos:broadMatch obo:DOID_0070653 "ORDO:528084")
53434+
AnnotationAssertion(skos:exactMatch obo:DOID_0070653 "MIM:620511")
53435+
SubClassOf(obo:DOID_0070653 obo:DOID_0050888)
53436+
5342353437
# Class: obo:DOID_0080000 (muscular disease)
5342453438

5342553439
AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")

0 commit comments

Comments
 (0)