loading...| Preferred Name | metabolic myopathy | |
| Synonyms |
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|
| Definitions |
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020123 |
|
| database_cross_reference |
ICD9:359.89 UMLS:C0270984 MEDGEN:452364 SCTID:26111005 NCIT:C98985 Orphanet:98486 MedDRA:10068836 GARD:19472 |
|
| definition |
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. |
|
| id |
MONDO:0020123 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
metabolic myopathy |
|
| notation |
MONDO:0020123 |
|
| preferred label |
metabolic myopathy |
|
| prefLabel |
metabolic myopathy |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/26111005 http://identifiers.org/medgen/452364 http://purl.obolibrary.org/obo/Orphanet_98486 |
|
| subClassOf |