ZFIN Human Disease: Beare-Stevenson cutis gyrata syndrome

OBO ID: DOID:0050660

Term Name:	Beare-Stevenson cutis gyrata syndrome		Search Ontology:
Synonyms:
Definition:	A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome
References:	GARD:332 OMIM:123790
Ontology:	Human Disease ( DOID:0050660 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FGFR2	fgfr2	Beare-Stevenson cutis gyrata syndrome	123790

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None