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DO Term : ABCD syndrome [DOID:0050600] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • ABCDS,
  • OMIM:600501,
  • 600501,
  • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness,
  • MESH:C535334
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents