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: myopathy (MONDO:0005336)
..Starting node ..muscular atrophy ()
Child Nodes:
........Arnold stickler bourne syndrome ()
Sister Nodes:
..acute quadriplegic myopathy ()
..congenital structural myopathy ()
..infectious, fungal or parasitic myopathy ()
..muscular atrophy ()
..muscular dystrophy ()
..myofascial pain syndrome ()
..myoglobinuria ()
..myopathy of extraocular muscle ()
..myopathy with eye involvement ()
..myopathy, lactic acidosis, and sideroblastic anemia ()
..myositis ()
..non-dystrophic myopathy ()
..polyglucosan body myopathy ()
..polymyalgia rheumatica ()
..spinal muscular atrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4323
Name:	muscular atrophy
Definition:	The loss of muscle tissue due to inactivity or disease.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	amyotrophia; muscle wasting; wasting - muscle
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal