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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

Disease Browser
Parent Node: Gonadal Dysgenesis, 46,XY (D006061)
..Starting node ..46, XY female (C536769)
Child Nodes:
Sister Nodes:
..46, XY female (C536769)
..46, XY Sex Reversal 5 (C567766)
..46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related (C565537)
..46,Xy Gonadal Dysgenesis, Complete, Sry-Related (C567574)
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..46,XY SEX REVERSAL 1 (OMIM:400044)
..46,XY Sex Reversal 4 (C567887)
..Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal (C566131)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia (C563920)
..Anorchia (C537770)
..Genito palato cardiac syndrome (C537683)
..Gonadal Dysgenesis, XY Type, with Associated Anomalies (C565536)
..Gonadoblastoma (D018238)
..Kennerknecht Vogel syndrome (C537019)
..Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase (C564109)
..Meacham Winn Culler syndrome (C538162)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	35
Name:	46, XY female
Definition:
Alternative IDs:
ParentIDs:	MESH:D006061
TreeNumbers:	C12.706.316.096.687/C536769 \|C12.706.316.309.388/C536769 \|C13.351.875.253.096.687/C536769 \|C13.351.875.253.309.388/C536769 \|C16.131.939.316.096.687/C536769 \|C16.131.939.316.309.388/C536769 \|C19.391.119.096.687/C536769 \|C19.391.119.309.388/C536769
Synonyms:	XY Female
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536769 MeSH: C536769 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants