ZFIN Human Disease: Fraser syndrome

OBO ID: DOID:0090001

Term Name:	Fraser syndrome		Search Ontology:
Synonyms:	cryptophthalmos with other malformations
Definition:	A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (4)
References:	GARD:6465 ICD10CM:Q87.0 MESH:D058497 OMIM:PS219000 ORDO:2052
Ontology:	Human Disease ( DOID:0090001 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms
has subtype:	Fraser syndrome 1 Fraser syndrome 2 Fraser syndrome 3 Fraser syndrome 1 Fraser syndrome 2 Fraser syndrome 3 Show first 5 Terms

OTHER Fraser syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)