About: Rubinstein-Taybi syndrome

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About: Rubinstein-Taybi syndrome Goto Sponge NotDistinct Permalink

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Xref MGI. OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease chromosomal deletion syndrome syndrome nodeID://b50950334 nodeID://b50950339
label	Rubinstein-Taybi syndrome
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:1933
database_cross_reference	ICD10CM:Q87.2 GARD:7593 MESH:D012415 NCI:C75466 OMIM:180849 OMIM:610543 OMIM:613684 ORDO:783 SNOMEDCT_US_2021_09_01:157032007 UMLS_CUI:C0035934
has_exact_synonym	Broad Thumb-Hallux syndrome (en) Rubinstein syndrome (en) proximal chromosome 16p13.3 deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950340

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