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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010651 |
|
| database_cross_reference |
Orphanet:565 NORD:1440 NANDO:2200580 icd11.foundation:986728180 NCIT:C75486 DOID:1838 NANDO:1200653 MedDRA:10027294 UMLS:C0022716 OMIM:309400 MEDGEN:44030 SCTID:59178007 MESH:D007706 ICD9:759.89 GARD:1521 |
|
| 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 | ||
| id |
MONDO:0010651 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Menkes disease |
|
| notation |
MONDO:0010651 |
|
| prefLabel |
Menkes disease |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1521/menkes-disease |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C75486 http://identifiers.org/mesh/D007706 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/986728180 http://purl.obolibrary.org/obo/Orphanet_565 http://purl.obolibrary.org/obo/DOID_1838 http://linkedlifedata.com/resource/umls/id/C0022716 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0004689 |
|
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002917 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004689 |