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ABCD syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050600

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). [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 ]

Term info

Label

ABCD syndrome

Synonyms
  • ABCDS
  • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050600