loading...| Preferred Name |
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| Synonyms |
MNK MK MD Kinky hair syndrome Kinky hair disease Trichopoliodystrophy Steely hair disease Menkes syndrome Steely hair syndrome X-linked copper deficiency |
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| 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_565 |
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| Obsolete |
true |
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| 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 |
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| label |
obsolete_Menkes disease |
|
| obsoleted_in_version |
3.41.0 |
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| reason_for_obsolescence |
Replaced with Mondo term. |
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| term replaced by | ||
| subClassOf |