loading...| Preferred Name | Menkes disease | |
| Synonyms |
Menkea syndrome copper transport disease Mk X-linked copper deficiency Menkes disease kinky hair disease MD Trichopoliodystrophy steely hair syndrome steely hair disease kinky hair syndrome Menkes syndrome menkes disease, X-linked recessive Menkes kinky hair syndrome Menkes kinky-hair syndrome MNK |
|
| Definitions |
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://purl.obolibrary.org/obo/MONDO_0010651 |
|
| altLabel |
Menkea syndrome copper transport disease Mk X-linked copper deficiency Menkes disease kinky hair disease MD Trichopoliodystrophy steely hair syndrome steely hair disease kinky hair syndrome Menkes syndrome menkes disease, X-linked recessive Menkes kinky hair syndrome Menkes kinky-hair syndrome MNK |
|
| definition |
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. |
|
| has_broad_synonym |
copper transport disease |
|
| has_exact_synonym |
Mk X-linked copper deficiency Menkes disease kinky hair disease MD Trichopoliodystrophy steely hair syndrome steely hair disease kinky hair syndrome Menkes syndrome menkes disease, X-linked recessive Menkes kinky hair syndrome Menkes kinky-hair syndrome MNK |
|
| has_related_synonym |
Menkea syndrome |
|
| IAO_0000233 | ||
| label |
Menkes disease |
|
| prefixIRI |
MONDO:0010651 |
|
| prefLabel |
Menkes disease |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1521/menkes-disease |
|
| textual definition |
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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004689 |