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About: ocular albinism     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • ocular albinism
described by
id
  • DOID:0050633
database_cross_reference
  • MESH:D016117
  • OMIM:300500
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.
is subClassOf of
is topic of
is annotatedSource of
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