All terms in DOID

Label Id Description
non-syndromic X-linked intellectual disability 90 DOID_0112041 [A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1.]
anaplastic oligodendroglioma DOID_7154 [An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).]
non-syndromic X-linked intellectual disability 100 DOID_0112040 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.]
vitamin D-dependent rickets type 2A DOID_0080884 [A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.]
non-syndromic X-linked intellectual disability 23 DOID_0112049 [A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24.]
susceptibility to celiac disease 12 MIM_612010
non-syndromic X-linked intellectual disability 101 DOID_0112048 [A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3.]
susceptibility to celiac disease 13 MIM_612011
non-syndromic X-linked intellectual disability 53 DOID_0112047 [A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26.]
obsolete ovarian dermoid cyst with secondary sarcoma DOID_6630
cervical non-keratinizing squamous cell carcinoma DOID_7961 [A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.]
tamoxifen-related endometrial lesion DOID_7962 [An endometrial disease that is caused by tamoxifen exposure.]
obsolete ovarian dermoid cyst with leiomyosarcoma DOID_6631
malignant spiradenoma DOID_7960
adult central nervous system choriocarcinoma DOID_6634 [A choriocarcinoma that is located in the central nervous system of an adult.]
uterine ligament clear cell adenocarcinoma DOID_5302 [A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.]
susceptibility to celiac disease 11 MIM_612009
Non-motor seizure HP_0033259
fallopian tube clear cell adenocarcinoma DOID_5301 [A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.]
obsolete type 3 ALPS DOID_7966