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 disease (MONDO:0005218)
Parent Node: urethral disease (MONDO:0004184)
..Starting node ..urethral intrinsic sphincter deficiency ()
Child Nodes:
Sister Nodes:
..prolapse of urethra ()
..urethra neoplasm ()
..urethral calculus ()
..urethral false passage ()
..urethral gland abscess ()
..urethral intrinsic sphincter deficiency ()
..urethral obstruction (disease) ()
..urethral syndrome ()
..urethritis (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1721
Name:	urethral intrinsic sphincter deficiency
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	intrinsic; intrinsic (urethral) sphincter deficiency [ISD]
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SGCD;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal