About: Waardenburg Syndrome Type 1     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Waardenburg Syndrome Type 1
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Waardenburg Syndrome Type 1
UMLS_CUI
  • C1847800
Legacy_Concept_Name
  • Waardenburg_Syndrome_Type_1
FULL_SYN
  • Waardenburg Syndrome Type 1PTNCI
  • Waardenburg Syndrome Type ISYNCI
DEFINITION
  • A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.NCI
code
  • C75008
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