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Human Diseases (thesaurus)

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Concept information

disease > genetic disease > hereditary disease > Menkes syndrome
disease > skin appendages disease > skin disease > Menkes syndrome
... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > epilepsy > Menkes syndrome
disease > enzymopathy > Menkes syndrome
disease > metabolic diseases > hypocupremia > Menkes syndrome
disease > biological abnormality > hypocupremia > Menkes syndrome
disease > skin appendages disease > frizzy hair > Menkes syndrome

Preferred term

Menkes syndrome  

Definition(s)

  • Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. (Wikipedia)

Broader concept(s)

Synonym(s)

  • kinky hair syndrome

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-WK6210CD-T

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RDF/XML TURTLE JSON-LD Last modified 5/14/20