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:
Ontology: Human Disease   (DOID:0050600)
OTHER ABCD syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EDNRB ABCD syndrome 600501
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None