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 muscular dystrophy (MONDO:0019950)
Parent Node: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: qualitative or quantitative defects of collagen 6 (MONDO:0016148)
..Starting node ..Ullrich congenital muscular dystrophy ()
Child Nodes:
........Ullrich congenital muscular dystrophy 1 ()
........Ullrich congenital muscular dystrophy 2 ()
Sister Nodes:
..Bethlem myopathy ()
..non-dystrophic myopathy with collagen 6 anomaly ()
..Ullrich congenital muscular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	355
Name:	Ullrich congenital muscular dystrophy
Definition:	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Alternative IDs:
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Synonyms:	congenital muscular dystrophy, Ullrich type; late onset scleroatonic familial myopathy (subtype); scleroatonic muscular dystrophy; scleroatonic Ullrich disease; UCMD; Ullrich disease; Ullrich scleroatonic muscular dystrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal