Terminology Service for NFDI4Health
Menkes Disease
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http://purl.obolibrary.org/obo/NCIT_C75486
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. [ ]
Term info
Label
Menkes Disease
Synonyms
- Kinky Hair Syndrome
- Menkes Disease
- Menkes Kinky Hair Syndrome
- Menkes Kinky-Hair Syndrome
Subsets
NCIT_C90259, NCIT_C99147
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C3101, http://purl.obolibrary.org/obo/NCIT_C97075
Legacy Concept Name
Menkes_Disease
NICHD Hierarchy Term
Menkes Disease
Preferred Name
Menkes Disease
Semantic Type
Disease or Syndrome
UMLS CUI
C0022716
code
C75486