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

AttributesValues
rdf:type
rdfs:label
  • Menkes Disease
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Menkes Disease
UMLS_CUI
  • C0022716
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Menkes_Disease
FULL_SYN
  • Menkes DiseasePTNCI
  • Menkes Kinky Hair SyndromeSYNCI
  • Menkes Kinky-Hair SyndromePTNICHD
  • Kinky Hair SyndromeSYNCI
DEFINITION
  • An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.NCI
code
  • C75486
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