Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
cone-rod dystrophy 18	DOID_0111024	[A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.]
cone-rod dystrophy 19	DOID_0111025	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.]
tracheal lymphoma	DOID_12001
platelet-type bleeding disorder 20	DOID_0111055	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.]
obsolete secondary malignant neoplasm of trachea	DOID_12000
platelet-type bleeding disorder 3	DOID_0111056	[A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.]
platelet-type bleeding disorder 15	DOID_0111053	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.]
von Willebrand's disease 3	DOID_0111054	[A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.]
platelet-type bleeding disorder 18	DOID_0111051	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.]
acrodysostosis	DOID_14669	[A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.]
Scott syndrome	DOID_0111052	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.]
Quebec platelet disorder	DOID_0111050	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.]
obsolete Toxoplasma myocarditis	DOID_13338	[A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain.]
congenital toxoplasmosis	DOID_13336	[A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.]
toxoplasmosis	DOID_9965	[A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.]
Bernard-Soulier syndrome type A2	DOID_0111059	[A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.]
ciliated epithelium	UBERON_0007601
obsolete Toxoplasma hepatitis	DOID_13335	[A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice.]
trachea squamous cell carcinoma	DOID_12003	[A squamous cell carcinoma that is located_in the trachea.]
platelet-type bleeding disorder 11	DOID_0111057	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.]