Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete hyperostosis frontalis interna	DOID_9925
bronchopneumonia	DOID_12375	[A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.]
arrhythmogenic right ventricular dysplasia 8	DOID_0110076	[An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.]
gastroschisis	DOID_11044
arrhythmogenic right ventricular dysplasia 9	DOID_0110077	[An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.]
obsolete moderate degree recurrent episode manic disease	DOID_8609
arrhythmogenic right ventricular dysplasia 5	DOID_0110074	[An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.]
Felty's syndrome	DOID_11042	[A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.]
arrhythmogenic right ventricular dysplasia 6	DOID_0110075	[An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.]
arrhythmogenic right ventricular dysplasia 3	DOID_0110072	[An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.]
arrhythmogenic right ventricular dysplasia 4	DOID_0110073	[An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.]
arrhythmogenic right ventricular dysplasia 1	DOID_0110070	[An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.]
arrhythmogenic right ventricular dysplasia 2	DOID_0110071	[An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.]
Arvicolinae	NCBITaxon_39087
meconium aspiration syndrome	DOID_11049
obsolete mixed disorder as reaction to stress	DOID_12379
obsolete predominant psychomotor disturbance	DOID_12378
Fungi incertae sedis	NCBITaxon_112252
Leber congenital amaurosis 1	DOID_0110078	[A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.]
juvenile spinal muscular atrophy	DOID_12376