ZFIN Human Disease: Rubinstein-Taybi syndrome

OBO ID: DOID:1933

Term Name:	Rubinstein-Taybi syndrome		Search Ontology:
Synonyms:	Broad Thumb-Hallux syndrome proximal chromosome 16p13.3 deletion syndrome Rubinstein syndrome
Definition:	A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (3)
References:	GARD:7593 ICD10CM:Q87.2 MESH:D012415 NCI:C75466 OMIM:180849 OMIM:610543 OMIM:613684 ORDO:783 SNOMEDCT_US_2023_03_01:157032007 UMLS_CUI:C0035934
Ontology:	Human Disease ( DOID:1933 )

Relationships

is a type of:	autosomal dominant disease chromosomal deletion syndrome syndrome autosomal dominant disease chromosomal deletion syndrome syndrome Show first 5 Terms

OTHER Rubinstein-Taybi syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CREBBP	crebbpa crebbpb	Rubinstein-Taybi syndrome 1	180849
EP300	ep300b ep300a	Rubinstein-Taybi syndrome 2	613684

ZEBRAFISH MODELS

Fish	Conditions	Citations
TU	chemical treatment: C646	Babu et al., 2018
gib1002Tg + MO3-ep300b + MO4-ep300a	standard conditions	Babu et al., 2018

PHENOTYPE No data available

CITATIONS (3)