OBO ID: DOID:0060844
Term Name: Norrie disease Search Ontology:
Synonyms:
  • atrophia bulborum hereditaria
  • Episkopi blindness
  • Norrie-Warburg disease
Definition: A X-linked recessive disease 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. (3)
References:
Ontology: Human Disease   (DOID:0060844)
Relationships
is a type of:
OTHER Norrie disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDP Norrie disease 310600
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None