Search Ontology:
Human Disease
ABCD syndrome
- Term ID
- DOID:0050600
- Synonyms
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- 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 )
- is a type of
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