Skip to content

Commit d2c9acb

Browse files
committed
Update Christianson syndrome
1 parent 3acf143 commit d2c9acb

File tree

1 file changed

+2
-1
lines changed

1 file changed

+2
-1
lines changed

src/ontology/doid-edit.owl

Lines changed: 2 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -40260,7 +40260,7 @@ SubClassOf(obo:DOID_0060824 obo:DOID_0060309)
4026040260

4026140261
# Class: obo:DOID_0060825 (Christianson syndrome)
4026240262

40263-
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18342287") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20949524") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25044251") obo:IAO_0000115 obo:DOID_0060825 "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.")
40263+
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18342287") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20949524") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25044251") obo:IAO_0000115 obo:DOID_0060825 "A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.")
4026440264
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060825 "GARD:10572")
4026540265
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060825 "MESH:C537450")
4026640266
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060825 "MIM:300243")
@@ -40272,6 +40272,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060825 "X-linked intellec
4027240272
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060825 "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome")
4027340273
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060825 "mental retardation, X-linked syndromic, Christianson type")
4027440274
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060825 "mental retardation, microcephaly, epilepsy, and ataxia syndrome")
40275+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060825 "Christianson type of X-linked syndromic intellectual developmental disorder")
4027540276
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060825 "disease_ontology")
4027640277
AnnotationAssertion(oboInOwl:id obo:DOID_0060825 "DOID:0060825")
4027740278
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060825 doid:DO_rare_slim)

0 commit comments

Comments
 (0)