MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: muscular disease (MONDO:0005218)
..Starting node ..muscle tissue disease ()
Child Nodes:
........atrophic muscular disease ()
........cardiomyopathy ()
........conduction system disorder ()
........distal arthrogryposis ()
........muscular channelopathy ()
........myomatous neoplasm ()
........myopathy ()
........myostatin-related muscle hypertrophy ()
........septal myocardial infarction ()
........skeletal muscle disease ()
........striated muscle rhabdoid tumor ()
........tonsillar pillar cancer ()
Sister Nodes:
..anterior compartment syndrome ()
..biliary dyskinesia ()
..contracture ()
..frozen shoulder ()
..Kocher-debre-Semelaigne syndrome ()
..levator syndrome ()
..muscle tissue disease ()
..myalgic encephalomeyelitis/chronic fatigue syndrome ()
..rhabdomyolysis (disease) ()
..rotator cuff syndrome ()
..sarcopenia ()
..urethral intrinsic sphincter deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3939
Name:	muscle tissue disease
Definition:	A disease involving the muscle tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of muscle tissue; disease or disorder of muscle tissue; disorder of muscle tissue; disorder of muscle tissue; muscle tissue disease; muscle tissue disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal