Absent testis

0010469

Normal Case/Contol

GWAS of 0010469

Sibling Case/Control

No sibling GWAS available 0010469

Statistics

Case Control
366 459828

Phenotype Definition

Testis not palpable in the scrotum or inguinal canal. [HPO:probinson, PMID:23650202]

Phenotype Comment

Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies.


Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: C629 Testis, unspecified 8/20