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 of endocrine system (MONDO:0000569)
Parent Node: autoimmune disease of urogenital tract (MONDO:0000601)
Parent Node: primary ovarian failure (MONDO:0005387)
..Starting node ..autoimmune primary ovarian failure ()
Child Nodes:
........Satoyoshi syndrome ()
Sister Nodes:
..acquired primary ovarian failure ()
..autoimmune primary ovarian failure ()
..inherited primary ovarian failure ()
..premature menopause ()
..premature ovarian failure 10 ()
..premature ovarian failure 13 ()
..premature ovarian failure 14 ()
..premature ovarian failure 15 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	44338
Name:	autoimmune primary ovarian failure
Definition:	An autoimmune form of primary ovarian failure.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	primary ovarian failure arising through autoimmunity
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal