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DO Term : Rubinstein-Taybi syndrome [DOID:1933] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.

synonyms:
610543,
Broad Thumb-Hallux syndrome,
OMIM:610543,
ORDO:783,
OMIM:613684,
Rubinstein syndrome,
NCI:C75466,
613684,
OMIM:180849,
GARD:7593,
MESH:D012415,
180849,
UMLS_CUI:C0035934,
proximal chromosome 16p13.3 deletion syndrome,
ICD10CM:Q87.2,
SNOMEDCT_US_2023_03_01:157032007

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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