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Parent Node:
expand46, XY Disorders of Sex Development (D058490)
Parent Node:
expandGonadal Dysgenesis (D006059)
..Starting node
..expandGonadal Dysgenesis, 46,XY (D006061)

       Child Nodes:
........expand46, XY female (C536769)
........expand46, XY Sex Reversal 5 (C567766)
........expand46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related (C565537)
........expand46,Xy Gonadal Dysgenesis, Complete, Sry-Related (C567574)
........expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
........expand46,XY SEX REVERSAL 1 (OMIM:400044)
........expand46,XY Sex Reversal 4 (C567887)
........expandAdrenal Insufficiency, Congenital, With 46,Xy Sex Reversal (C566131)
........expandAgonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
........expandAlopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia (C563920)
........expandAnorchia (C537770)
........expandGenito palato cardiac syndrome (C537683)
........expandGonadal Dysgenesis, XY Type, with Associated Anomalies (C565536)
........expandGonadoblastoma (D018238)
........expandKennerknecht Vogel syndrome (C537019)
........expandMale Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase (C564109)
........expandMeacham Winn Culler syndrome (C538162)
........expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)



 Sister Nodes: 
..expandDosage-sensitive sex reversal (C535601)
..expandGonadal Dysgenesis, 46,XX (D023961) Child8
..expandGonadal Dysgenesis, 46,XY (D006061) Child18
..expandGonadal Dysgenesis, Mixed (D006060)
..expandImmunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..expandMalouf syndrome (C535703)
..expandOvarian Dysgenesis 2 (C564499)
..expandSexual Infantilism (D050035)
..expandTurner Syndrome (D014424) Child2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4761
Name:Gonadal Dysgenesis, 46,XY
Definition:Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Alternative IDs:
ParentIDs:MESH:D006059|MESH:D058490
TreeNumbers:C12.706.316.096.687 |C12.706.316.309.388 |C13.351.875.253.096.687 |C13.351.875.253.309.388 |C16.131.939.316.096.687 |C16.131.939.316.309.388 |C19.391.119.096.687 |C19.391.119.309.388
Synonyms:46,XY Complete Gonadal Dysgenesis |46, XY Gonadal Dysgenesis |46, XY Gonadal Sex Reversal |Complete Gonadal Dysgenesis, 46, XY |Gonadal Dysgenesis, 46, XY |Pure Gonadal Dysgenesis 46,XY |Pure Gonadal Dysgenesis, 46, XY |Sex Reversal, Gonadal, 46, XY |Swyer Syndr
Slim Mappings:Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D006061
MeSH: D006061
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants