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ABCD syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description An autosomal recessive disease 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).
Uniprot Description An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
Disease Ontology Description An autosomal recessive disease 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).
Mondo Term and Equivalent IDs
MONDO:0010895:  ABCD syndrome
MESH:C535334: 
UMLS:C1838099: 
UMLS:CN206498: