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Metadata
ID DOID:1933
Name Rubinstein-Taybi syndrome
Definition An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome, http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome
Xrefs

GARD:7593

ICD10CM:Q87.2

MESH:D012415

NCI:C75466

OMIM:180849

OMIM:610543

OMIM:613684

ORDO:783

SNOMEDCT_US_2018_03_01:45582004

UMLS_CUI:C0035934

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Broad Thumb-Hallux syndrome [EXACT]

proximal chromosome 16p13.3 deletion syndrome [EXACT]

Rubinstein syndrome [EXACT]

Parent Relationships

is_a autosomal dominant disease

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