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

http://purl.obolibrary.org/obo/NCIT_C25162

Has_PCDC_GCT_Permissible_Value

http://purl.obolibrary.org/obo/NCIT_C43234

http://purl.obolibrary.org/obo/NCIT_C49487

http://purl.obolibrary.org/obo/NCIT_C17998

http://purl.obolibrary.org/obo/NCIT_C49488

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C177391

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C177384

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

http://purl.obolibrary.org/obo/NCIT_C27570

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