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: hypogonadism (MONDO:0002146)
..Starting node ..gonadal dysgenesis ()
Child Nodes:
........45,X/46,XY mixed gonadal dysgenesis ()
........46 XX gonadal dysgenesis ()
........46,XY complete gonadal dysgenesis ()
........testicular dysgenesis syndrome ()
........Turner syndrome ()
Sister Nodes:
..eunuchism ()
..gonadal dysgenesis ()
..hypogonadism, male ()
..hypogonadotropic hypogonadism ()
..Moebius axonal neuropathy hypogonadism ()
..Slti-Salem syndrome ()
..weinstein kliman scully syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1967
Name:	gonadal dysgenesis
Definition:	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	gonadal dysgenesis syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal