About: Menkes Disease

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

Attributes	Values
rdf:type	Class
rdfs:label	Menkes Disease
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder Hereditary Connective Tissue Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
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
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0012055
is sameAs of	Menkes Kinky Hair Syndrome

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