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: autoimmune disease (MONDO:0007179)
Parent Node: disease of genitourinary system (MONDO:0021145)
..Starting node ..autoimmune disease of urogenital tract ()
Child Nodes:
........autoimmune glomerulonephritis ()
........autoimmune oophoritis ()
........autoimmune primary ovarian failure ()
........pemphigoid gestationis ()
........postpartum thyroiditis ()
Sister Nodes:
..autoimmune disease of urogenital tract ()
..familial vesicoureteral reflux ()
..inherited genitourinary tract anomalies (disease) ()
..multisystemic smooth muscle dysfunction syndrome ()
..reproductive system disease ()
..syndromic urogenital tract malformation ()
..urogenital neoplasm ()
..urogenital tuberculosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	601
Name:	autoimmune disease of urogenital tract
Definition:	A hypersensitivity reaction type II disease that involves the genitourinary system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	autoimmune disease of genitourinary system; genitourinary system autoimmune disease; genitourinary system hypersensitivity reaction type II disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal