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: congenital structural myopathy (MONDO:0002921)
Parent Node: non-dystrophic myopathy (MONDO:0016110)
..Starting node ..nemaline myopathy ()
Child Nodes:
........adult-onset nemaline myopathy ()
........childhood-onset nemaline myopathy ()
........intermediate nemaline myopathy ()
........nemaline myopathy 11 ()
........nemaline myopathy 5 ()
........severe congenital nemaline myopathy ()
........typical nemaline myopathy ()
Sister Nodes:
..Brody myopathy ()
..congenital generalized lipodystrophy type 4 ()
..congenital myopathy ()
..early-onset myopathy with fatal cardiomyopathy ()
..hereditary continuous muscle fiber activity ()
..inclusion myopathy ()
..metabolic myopathy ()
..myofibrillar myopathy (disease) ()
..nemaline myopathy ()
..non-dystrophic myopathy with collagen 6 anomaly ()
..proximal myopathy with extrapyramidal signs ()
..proximal myopathy with focal depletion of mitochondria () L: 00412;
..rippling muscle disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18958
Name:	nemaline myopathy
Definition:	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	congenital rod disease; NEM; nemaline body disease; nemaline rod disease; nemaline rod myopathy; NM; Rod body disease; rod myopathy; Rod-body myopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal