ZFIN Human Disease: Crouzon syndrome-acanthosis nigricans syndrome

OBO ID: DOID:0111161

Term Name:	Crouzon syndrome-acanthosis nigricans syndrome		Search Ontology:
Synonyms:	Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome
Definition:	A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (3)
References:	OMIM:612247 ORDO:93262
Ontology:	Human Disease ( DOID:0111161 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FGFR3	fgfr3	Crouzon syndrome with acanthosis nigricans	612247

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None