Preferred Name | Gonadal Dysgenesis | |
Synonyms |
|
|
Definitions |
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C61420 |
|
ALT_DEFINITION |
Anomalous development of the gonads, resulting in reduced hormone production and germ cell numbers. The gonads are completely or partially underdeveloped and comprise mainly fibrous tissue. Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome. |
|
code |
C61420 |
|
Contributing_Source |
Cellosaurus NICHD PCDC |
|
definition |
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. |
|
Has_PCDC_Data_Type | ||
Has_PCDC_GCT_Permissible_Value |
http://purl.obolibrary.org/obo/NCIT_C43234 http://purl.obolibrary.org/obo/NCIT_C49487 |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C177391 |
|
label |
Gonadal Dysgenesis |
|
Legacy Concept Name |
Gonadal_Dysgenesis |
|
Preferred_Name |
Gonadal Dysgenesis |
|
prefixIRI |
NCIT:C61420 |
|
prefLabel |
Gonadal Dysgenesis |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0018051 |
|
subClassOf |