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: disease of visual system (MONDO:0024458)
Parent Node: eye adnexa disease (MONDO:0000462)
Parent Node: myopathy (MONDO:0005336)
Parent Node: skeletal muscle disease (MONDO:0020120)
..Starting node ..myopathy of extraocular muscle ()
Child Nodes:
........congenital fibrosis of extraocular muscles ()
........oculopharyngeal muscular dystrophy ()
Sister Nodes:
..acquired skeletal muscle disease ()
..anismus ()
..Brown's tendon sheath syndrome ()
..Cyprus facial-neuromusculoskeletal syndrome ()
..diaphragm disease ()
..intellectual disability-developmental delay-contractures syndrome ()
..muscular dystrophy ()
..muscular dystrophy-white matter spongiosis syndrome ()
..myopathy due to calsequestrin and SERCA1 protein overload ()
..myopathy of extraocular muscle ()
..myotonic syndrome ()
..non-dystrophic myopathy ()
..periodic paralysis (disease) ()
..skeletal muscle neoplasm ()
..Tel Hashomer camptodactyly syndrome ()
..Volkmann contracture ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4746
Name:	myopathy of extraocular muscle
Definition:	A myopathy that involves the extra-ocular muscle.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	extra-ocular muscle myopathy; myopathy of extra-ocular muscle; myopathy of extraocular muscles
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: DICER1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal