Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
n_terminal_region	SO_0100014	[The amino-terminal positively-charged region of a signal peptide (approx 1-5 aa).]
obsolete McKusick type metaphyseal dysplasia	DOID_0080022
no_output	SO_0100010	[An experimental region wherean analysis has been run and not produced any annotation.]
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.]
obsolete endosteal hyperostosis	DOID_0080034	[A hyperostosis of endosteal bone.]
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's 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.]
Abnormal platelet count	HP_0011873	[Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.]
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.]
sciatic neuropathy	DOID_11446
lesion of sciatic nerve	DOID_12528
obsolete Trypanosoma brucei rhodesiense infectious disease	DOID_10114	[A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems.]
sleeping sickness	DOID_10112	[A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.]
trypanosomiasis	DOID_10113	[A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.]
obsolete endemic African Kaposi's sarcoma	DOID_12773	[A Kaposi's sarcoma that is located_in black Africans.]
obsolete malignant mast cell tumors involving lymph node of head	DOID_11442
obsolete Congenital or acquired abnormality of vagina, with delivery	DOID_10111