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DO Term : Norrie disease [DOID:0060844] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
  • synonyms:
  • GARD:7224,
  • ORDO:649,
  • SNOMEDCT_US_2023_03_01:15228007,
  • atrophia bulborum hereditaria,
  • OMIM:310600,
  • Episkopi blindness,
  • NCI:C118634,
  • 310600,
  • UMLS_CUI:C0266526,
  • MESH:C537849,
  • Norrie-Warburg disease
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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