Jump to:
loading...| Preferred Name | Gonadal Dysgenesis [Disease/Finding] | |
| Synonyms |
Gonadal Dysgenesis |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001377 |
|
| altLabel |
Gonadal Dysgenesis |
|
| cui |
C0018051 |
|
| MESH 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. |
|
| MESH DUI |
D006059 |
|
| MeSH name |
Gonadal Dysgenesis |
|
| MESH UI |
M0009537 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001377 |
|
| NUI |
N0000001377 |
|
| prefLabel |
Gonadal Dysgenesis [Disease/Finding] |
|
| SNOMED CID |
205681004 |
|
| tui |
T019 |
|
| subClassOf |
Create mapping