About: Oculocutaneous Albinism     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Oculocutaneous Albinism
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Oculocutaneous Albinism
UMLS_CUI
  • C0078918
FULL_SYN
  • Oculocutaneous AlbinismPTNCI
DEFINITION
  • An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia.NCI
code
  • C84941
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