ZFIN Human Disease: craniofacial-deafness-hand syndrome

OBO ID: DOID:0111336

Term Name:	craniofacial-deafness-hand syndrome		Search Ontology:
Synonyms:	CDHS Sommer-Young-Wee-Frye syndrome
Definition:	A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (2)
References:	GARD:1571 MESH:C536453 OMIM:122880 ORDO:1529 SNOMEDCT_US_2023_03_01:702362004 UMLS_CUI:C1852510
Ontology:	Human Disease ( DOID:0111336 )

Relationships

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

OTHER craniofacial-deafness-hand syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PAX3	pax3a pax3b	Craniofacial-deafness-hand syndrome	122880

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None