All terms in DOID

Label Id Description
non-syndromic X-linked intellectual disability 19 DOID_0112019 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12.]
non-syndromic X-linked intellectual disability 104 DOID_0112018 [A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.]
non-syndromic X-linked intellectual disability 73 DOID_0112017 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2.]
non-syndromic X-linked intellectual disability 2 DOID_0112016 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.]
immunodeficiency 72 DOID_0112015 [A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.]
congenital megabladder DOID_0112014 [A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12.]
obsolete papillotubular adenocarcinoma DOID_6663
central nervous system osteosarcoma DOID_7994
ovary transitional cell carcinoma DOID_4000 [An ovarian epithelial cancer that derives_from epithelial transitional cells.]
testicular granulosa cell tumor DOID_5331
granulosa cell tumor DOID_2999 [A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.]
obsolete regressing nevus DOID_6667
obsolete renal neoplasm with t(6;11)(p21;q12) DOID_5335
paraphimosis DOID_5334
phimosis DOID_2712
Schneiderian carcinoma DOID_4003
familial glomangioma DOID_7996
epulis DOID_5337
thyrotoxicosis DOID_7997 [A thyroid gland disease that is characterized by excess thyroid hormone.]
endometrial transitional cell carcinoma DOID_4005 [An endometrial carcinoma that derives_from transitional epithelial cells.]