About: Juvenile X-Linked Retinoschisis     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Juvenile X-Linked Retinoschisis
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Juvenile X-Linked Retinoschisis
UMLS_CUI
  • C0271091
Legacy_Concept_Name
  • Juvenile_X_Linked_Retinoschisis
FULL_SYN
  • Juvenile X-Linked RetinoschisisPTNCI
DEFINITION
  • A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight.NCI
code
  • C75483
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