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: muscle tissue disease (MONDO:0003939)
Parent Node: neuromuscular disease (MONDO:0019056)
..Starting node ..atrophic muscular disease ()
Child Nodes:
Sister Nodes:
..atrophic muscular disease ()
..Charcot-Marie-Tooth disease ()
..motor neuron disease ()
..muscular channelopathy ()
..neuromuscular disease with dilated cardiomyopathy ()
..neuromuscular junction disease ()
..skeletal 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:	4714
Name:	atrophic muscular disease
Definition:	A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	atrophic muscular disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PHKB;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal