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: hereditary motor neuron disease (MONDO:0024257)
Parent Node: spinal muscular atrophy (MONDO:0001516)
..Starting node ..proximal spinal muscular atrophy ()
Child Nodes:
........autosomal dominant proximal spinal muscular atrophy ()
........Werdnig-Hoffmann disease ()
Sister Nodes:
..autosomal dominant congenital benign spinal muscular atrophy ()
..autosomal recessive distal spinal muscular atrophy 1 ()
..autosomal recessive distal spinal muscular atrophy 2 ()
..bulbospinal muscular atrophy ()
..distal spinal muscular atrophy type 3 ()
..infantile-onset X-linked spinal muscular atrophy ()
..proximal spinal muscular atrophy ()
..spinal muscular atrophy, facioscapulohumeral type ()
..spinal muscular atrophy, Ryukyuan type ()
..spinal muscular atrophy, scapuloperoneal ()
..spinal muscular atrophy, segmental ()
..X-linked distal spinal muscular atrophy type 3 ()
..young adult-onset distal hereditary motor neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19079
Name:	proximal spinal muscular atrophy
Definition:	Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	SMA
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal