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: spinal muscular atrophy (MONDO:0001516)
..Starting node ..bulbospinal muscular atrophy ()
Child Nodes:
........bulbospinal muscular atrophy of adulthood ()
........bulbospinal muscular atrophy of childhood ()
........generalized bulbospinal muscular atrophy ()
........spinal muscular atrophy associated with central nervous system anomaly ()
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:	16113
Name:	bulbospinal muscular atrophy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bulbospinal muscular atrophy; SBMA; spinal and bulbal muscular atrophy; spinal-bulbar muscular atrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal