Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:4759
Name:Gonadal Dysgenesis
Definition:A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Alternative IDs:
ParentIDs:MESH:D012734
TreeNumbers:C12.706.316.309 |C13.351.875.253.309 |C16.131.939.316.309 |C19.391.119.309
Synonyms:Dysgenesis, Gonadal |Gonadal Agenesis
Slim Mappings:Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D006059
MeSH: D006059
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants