Experimental Factor Ontology

Last uploaded: November 18, 2024

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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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_565	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_565	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_565	CCONT	LOOM