ZFIN Human Disease: ABCD syndrome

OBO ID: DOID:0050600

Term Name:	ABCD syndrome		Search Ontology:
Synonyms:	ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Definition:	A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (2)
References:	MESH:C535334 OMIM:600501
Ontology:	Human Disease ( DOID:0050600 )

Relationships

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

OTHER ABCD syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EDNRB	ednrba ednrbb	?ABCD syndrome	600501

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None