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: amyotrophic lateral sclerosis (MONDO:0004976)
..Starting node ..progressive muscular atrophy ()
Child Nodes:
........adult progressive spinal muscular atrophy, Aran Duchenne type ()
Sister Nodes:
..amyotrohpic lateral sclerosis type 22 ()
..amyotrophic lateral sclerosis type 21 ()
..amyotrophic lateral sclerosis type 23 ()
..amyotrophic lateral sclerosis type 3 ()
..amyotrophic lateral sclerosis type 7 ()
..amyotrophic lateral sclerosis type 8 ()
..amyotrophic lateral sclerosis type 9 ()
..amyotrophic lateral sclerosis with polyglucosan bodies ()
..amyotrophic lateral sclerosis, susceptibility to, 24 ()
..familial amyotrophic lateral sclerosis ()
..progressive muscular atrophy ()
..sporadic amyotrophic lateral sclerosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18687
Name:	progressive muscular atrophy
Definition:	A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	PMA; progressive spinal muscular atrophy; pure progressive muscular atrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal