All terms in DOID

Label Id Description
Paget's disease of bone 6 DOID_0081369 [A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21.]
Paget's disease of bone DOID_5408 [A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.]
pycnodysostosis DOID_0080038 [An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.]
axial osteomalacia DOID_0080039 [An osteosclerosis that results_in coarsening located_in trabecular bone.]
Paget's disease of bone 2 DOID_0081365 [A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.]
obsolete endosteal hyperostosis DOID_0080034 [A hyperostosis of endosteal bone.]
susceptibility to migraine with or without aura 13 MIM_613656
Paget's disease of bone 3 DOID_0081366 [A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.]
Paget's disease of bone 4 DOID_0081367 [A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972.]
SOST-related sclerosing bone dysplasia DOID_0080036 [A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.]
hyperostosis DOID_205 [A bone remodeling disease that results in an abnormal growth of located in bone.]
Worth syndrome DOID_0080037 [A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.]
Paget's disease of bone 5 DOID_0081368 [A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24.]
Keratoconus HP_0000563
obsolete Trypanosoma brucei gambiense infectious disease DOID_10116 [A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems.]
obsolete recurrent Kaposi's sarcoma DOID_12779 [A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes.]
Abnormal shape of the frontal region HP_0011218
Abnormal frontal bone morphology HP_0430000
sciatic neuropathy DOID_11446
lesion of sciatic nerve DOID_12528