Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Disorders of Sex Development (D012734)
..Starting node ..Ovotesticular Disorders of Sex Development (D050090)
Child Nodes:
........46,XY SEX REVERSAL 1 (OMIM:400044)
........46,Xy True Hermaphroditism, Sry-Related (C567575)
........PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Sister Nodes:
..46, XX Disorders of Sex Development (D058489) 25
..46, XY Disorders of Sex Development (D058490) 48
..Adrenogenital Syndrome (D047808) 17
..Campomelic Dysplasia with Autosomal Sex Reversal (C564282)
..Gonadal Dysgenesis (D006059) 37
..Meacham Syndrome (C563821)
..Ovotesticular Disorders of Sex Development (D050090) 3
..Sex Chromosome Disorders of Sex Development (D058533) 8
..Verloes Gillerot Fryns syndrome (C536539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8495
Name:	Ovotesticular Disorders of Sex Development
Definition:	Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.
Alternative IDs:
ParentIDs:	MESH:D012734
TreeNumbers:	C12.706.316.343 \|C13.351.875.253.343 \|C16.131.939.316.343 \|C19.391.119.343
Synonyms:	46,XX Gonadal Dysgenesis, Complete, Sry-Positive \|46,XX True Hermaphroditism, Sry-Positive \|DSD, Ovotesticular \|DSDs, Ovotesticular \|Familial True Hermaphroditism \|Familial True Hermaphroditisms \|Familial XX True Hermaphroditism \|Hermaphroditism, Familial True \|
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D050090 MeSH: D050090 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants