- congenital dyserythropoietic anemia type II [DOID:0111401]
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
- embryonal carcinoma [DOID:3308]
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
- Froelich syndrome [DOID:6676]
A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.
- spermatogenic failure 28 [DOID:0111916]
A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2.
- spermatogenic failure 32 [DOID:0111925]
A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3.
- partial androgen insensitivity syndrome [DOID:0080776]
An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.
- gummatous syphilis [DOID:0050584]
A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
- spermatogenic failure 25 [DOID:0111920]
A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12.
- Renpenning syndrome [DOID:0060179]
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.