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AttributesValues
rdf:type
rdfs:label
  • Usher Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Usher Syndrome
UMLS_CUI
  • C0271097
FULL_SYN
  • Usher SyndromePTNCI
DEFINITION
  • A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.NCI
code
  • C85217
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