All terms in DOID

Label Id Description
obsolete meningococcal endocarditis DOID_761
thrombophilia due to decreased release of PLAT DOID_0111906 [A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls.]
thrombophilia due to HRG deficiency DOID_0111903 [A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3.]
muscular atrophy DOID_767
Chromadorea NCBITaxon_119089
autosomal recessive thrombophilia due to protein C deficiency DOID_0111904 [A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.]
heparin cofactor II deficiency DOID_0111901 [A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.]
thrombophilia due to activated protein C resistance DOID_0111902 [A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.]
obsolete meningococcal pericarditis DOID_764
carboxylic anhydride CHEBI_35873
acid anhydride CHEBI_36606
autosomal dominant thrombophilia due to protein C deficiency DOID_0111909 [A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.]
3,3',5,5'-tetrabromobisphenol A CHEBI_33217 [A bromobisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups and the phenyl rings are substituted by bromo groups at positions 2, 2', 6 and 6'. It is a brominated flame retardant.]
legume food product FOODON_00001264
botanical fruit food product FOODON_00001262
severe congenital encephalopathy due to MECP2 mutation DOID_0111932 [A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.]
primary ciliary dyskinesia 12 DOID_0110601 [A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.]
primary ciliary dyskinesia 11 DOID_0110602 [A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.]
phosphoglycerate kinase 1 deficiency DOID_0111933 [A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.]
obsolete congenital disorder DOID_759