| Metadata | |
|---|---|
| ID | DOID:0050600 |
| Name | ABCD syndrome |
| 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). http://en.wikipedia.org/wiki/ABCD_syndrome, http://omim.org/entry/600501 |
| Xrefs | |
| Synonyms |
ABCDS [EXACT] albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness [EXACT] |
| Parent Relationships |
is_a syndrome |