Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

obsolete_Menkes disease
Synonyms

X-linked copper deficiency

Steely hair syndrome

Menkes syndrome

Steely hair disease

Trichopoliodystrophy

Kinky hair disease

Kinky hair syndrome

MD

MK

MNK
Definitions

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
ID

http://www.orpha.net/ORDO/Orphanet_565
Obsolete

true
database_cross_reference

ICD10:E83.0

MedDRA:10027294

OMIM:309400

UMLS:C0022716
definition

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
definition_citation

orphanet
deprecated

true
has_exact_synonym

X-linked copper deficiency

Steely hair syndrome

Menkes syndrome

Steely hair disease

Trichopoliodystrophy

Kinky hair disease

Kinky hair syndrome

MD

MK

MNK
label

obsolete_Menkes disease
obsoleted_in_version

3.41.0
preferred label

obsolete_Menkes disease
prefLabel

obsolete_Menkes disease
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0010651
subClassOf

http://www.w3.org/2002/07/owl#Thing
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