Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Bernard-Soulier syndrome	DOID_2217	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.]
esophageal adenoid cystic carcinoma	DOID_4878	[An esophageal carcinoma that derives_from epithelial cells of the salivary gland.]
factor XI deficiency	DOID_2229	[An inherited blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.]
dexstrosynaptic_chromosome	SO_1000142	[An autosynaptic chromosome carrying the two right (D = dextro) telomeres.]
autosynaptic_chromosome	SO_1000136	[An autosynaptic chromosome is the aneuploid product of recombination between a pericentric inversion and a cytologically wild-type chromosome.]
chromosome_fission	SO_1000141	[A chromosome that occurred by the division of a larger chromosome.]
intrachromosomal_mutation	SO_1000028	[A chromosomal structure variation within a single chromosome.]
laevosynaptic_chromosome	SO_1000143	[LS is an autosynaptic chromosome carrying the two left (L = levo) telomeres.]
hetero_compound_chromosome	SO_1000140	[A compound chromosome whereby two arms from different chromosomes are connected through the centromere of one of them.]
homo_compound_chromosome	SO_1000138	[A compound chromosome whereby two copies of the same chromosomal arm attached to a common centromere. The chromosome is diploid for the arm involved.]
kidney clear cell sarcoma	DOID_4880	[A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope.]
obsolete pediatric soft part clear cell sarcoma	DOID_4882
obsolete peritoneal neoplasm	DOID_4884
factor X deficiency	DOID_2222
platelet storage pool deficiency	DOID_2223
Colorado tick fever	DOID_4885	[A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.]
essential thrombocythemia	DOID_2224	[A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.]
Thrombocytosis	HP_0001894	[Increased numbers of platelets in the peripheral blood.]
obsolete megakaryocytic tumor	DOID_2225
obsolete Rotavirus infectious disease	DOID_4887	[A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.]