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: adrenogenital syndrome (MONDO:0015898)
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: sex differentiation disease (MONDO:0002145)
..Starting node ..hyperandrogenism ()
Child Nodes:
Sister Nodes:
..46,XX disorder of sex development ()
..46,XY disorder of sex development ()
..gynecomastia ()
..hyperandrogenism ()
..indeterminate sex and/or pseudohermaphroditism ()
..sex chromosome disorder of sex development ()
..true hermaphroditism ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1324
Name:	hyperandrogenism
Definition:	A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hyperandrogenization syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal