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: muscular dystrophy (MONDO:0020121)
..Starting node ..distal myopathy ()
Child Nodes:
........autosomal dominant distal myopathy ()
........autosomal recessive distal myopathy ()
........Laing early-onset distal myopathy ()
........myopathy, distal, 5 ()
........myopathy, distal, infantile-onset ()
........myopathy, distal, with rimmed vacuoles ()
........oculopharyngodistal myopathy ()
Sister Nodes:
..congenital muscular dystrophy ()
..distal myopathy ()
..Fukuda-Miyanomae-Nakata syndrome ()
..Hauptmann-Thannhauser muscular dystrophy ()
..muscular dystrophy, Barnes type ()
..muscular dystrophy, cardiac type ()
..muscular dystrophy, Hemizygous lethal type ()
..muscular dystrophy, Mabry type ()
..muscular dystrophy, progressive Pectorodorsal ()
..progressive 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:	18949
Name:	distal myopathy
Definition:	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	distal muscular dystrophy; distal myopathy; Miyoshi muscular dystrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal