ABCD syndrome

Term ID

DOID:0050600

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 )