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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Norrie disease
described by
id
  • DOID:0060844
database_cross_reference
  • GARD:7224
  • MESH:C537849
  • NCI:C118634
  • OMIM:310600
  • ORDO:649
  • SNOMEDCT_US_2021_09_01:15228007
  • UMLS_CUI:C0266526
has_exact_synonym
  • Episkopi blindness (en)
  • Norrie-Warburg disease (en)
  • atrophia bulborum hereditaria (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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