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: progressive muscular dystrophy (MONDO:0016106)
..Starting node ..facioscapulohumeral muscular dystrophy ()
Child Nodes:
........facioscapulohumeral muscular dystrophy 1 ()
........facioscapulohumeral muscular dystrophy 2 ()
........muscular dystrophy, scapulohumeral ()
Sister Nodes:
..Bethlem myopathy ()
..childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome ()
..congenital fibrosis of extraocular muscles ()
..Duchenne and Becker muscular dystrophy ()
..Emery-Dreifuss muscular dystrophy ()
..facioscapulohumeral muscular dystrophy ()
..hereditary proximal myopathy with early respiratory failure ()
..late-onset scapuloperoneal muscular dystrophy with hyaline bodies ()
..limb-girdle muscular dystrophy ()
..myotonic dystrophy ()
..oculopharyngeal muscular dystrophy ()
..oculopharyngodistal myopathy ()
..progressive scapulohumeroperoneal distal myopathy ()
..Schwartz-Jampel syndrome ()
..X-linked myopathy with excessive autophagy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1347
Name:	facioscapulohumeral muscular dystrophy
Definition:	An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	facioscapulohumeral dystrophy; facioscapulohumeral muscular dystrophy; facioscapulohumeral myopathy; FSH dystrophy; FSHD; Landouzy Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy; Landouzy-Dejerine myopathy; muscular dystrophy, Landouzy-Dejerine
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal