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: abdominal and pelvic region disorder (MONDO:0044965)
Parent Node: anus disease (MONDO:0002519)
Parent Node: muscular disease (MONDO:0005218)
..Starting node ..levator syndrome ()
Child Nodes:
Sister Nodes:
..anterior compartment syndrome ()
..biliary dyskinesia ()
..contracture ()
..frozen shoulder ()
..Kocher-debre-Semelaigne syndrome ()
..levator syndrome ()
..muscle tissue disease ()
..myalgic encephalomeyelitis/chronic fatigue syndrome ()
..rhabdomyolysis (disease) ()
..rotator cuff syndrome ()
..sarcopenia ()
..urethral intrinsic sphincter deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	23628
Name:	levator syndrome
Definition:	Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.
Alternative IDs:
ParentIDs:
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Synonyms:	anorectal spasm; levator ani spasm syndrome; levator ani syndrome; levator syndrome; painful spasm of anus; paroxysmal proctalgia; proctalgia fugax; psychogenic anal spasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal