metabolic myopathy

http://purl.obolibrary.org/obo/MONDO_0020123

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. [ NCIT:C98985 ]

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Term history

Term info

database cross reference

UMLS:C0270984 (Orphanet:98486/e)
SCTID:26111005 (MONDO:equivalentTo)
NCIT:C98985 (MONDO:equivalentTo)
Orphanet:98486 (MONDO:equivalentTo)
ICD9:359.89 (MONDO:relatedTo)
MedDRA:10068836 (Orphanet:98486/e)

Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10068836

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.

exactMatch

http://identifiers.org/snomedct/26111005, http://linkedlifedata.com/resource/umls/id/C0270984, http://purl.obolibrary.org/obo/Orphanet_98486, http://purl.obolibrary.org/obo/NCIT_C98985

MONDO:0020123

Term relations

Subclass of:

myopathy