Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
isoxazoles	CHEBI_55373	[Oxazoles in which the N and O atoms are adjacent.]
oxazole	CHEBI_35790	[An azole based on a five-membered heterocyclic aromatic skeleton containing one N and one O atom.]
cardiac tuberculosis	DOID_0060570
heart disease	DOID_114	[A cardiovascular system disease that involves the heart.]
tuberculosis	DOID_399	[A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.]
Ritscher-Schinzel syndrome 1	DOID_0060571	[A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.]
Ritscher-Schinzel syndrome	DOID_0060565	[A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.]
Ritscher-Schinzel syndrome 2	DOID_0060572	[A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.]
X-linked recessive disease	DOID_0080012	[A X-linked monogenic disease that has_material_basis_in recessive inheritance.]
X-linked recessive inheritance	GENO_0000149	[An X-linked inheritance pattern wherein a trait caused by alleles of a gene on the X-chromosome manifests in homozygous but not heterozygote individuals.]
von Willebrand's disease 1	DOID_0060573	[A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.]
von Willebrand's disease	DOID_12531	[A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.]
von Willebrand's disease 2	DOID_0060574	[A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13.]
sequence	sequence
bone disease	DOID_0080001	[A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.]
monogenic disease	DOID_0050177	[A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.]
gene	SO_0000704	[A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.]
Trypanosoma cruzi	NCBITaxon_5693
Schizotrypanum	NCBITaxon_47570
Holzgreve-Wagner-Rehder Syndrome	DOID_0060566	[A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.]