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: focal dystonia (MONDO:0000477)
Parent Node: skeletal muscle disease (MONDO:0020120)
..Starting node ..anismus ()
Child Nodes:
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:	480
Name:	anismus
Definition:	A focal dystonia of the pelvic floor muscles during attempted defecation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	anal region skeletal muscle focal dystonia; dyskinetic puborectalis; dyssynergic defecation; focal dystonia of anal region skeletal muscle; puborectalis syndrome; rectosphincteric dyssynergia; spastic pelvic floor syndrome; sphincteric disobedience syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal