All terms in DOID

Label Id Description
Omsk hemorrhagic fever virus NCBITaxon_12542
Orthoflavivirus omskense NCBITaxon_3048233
obsolete syphilitic disseminated chorioretinitis DOID_11409
obsolete bronchial tuberculosis DOID_12739 [A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways.]
gas molecular entity CHEBI_138675
choroiditis DOID_11406
choroid disease DOID_1417 [An uveal disease that is located_in the choroid.]
diphtheria DOID_11405 [A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.]
neural tube defect DOID_0080074 [A physical disorder characterized by incomplete closure of the neural tube.]
Neu-Laxova syndrome 2 DOID_0080075 [A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.]
serine deficiency DOID_0050721 [An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.]
Neu-Laxova syndrome 1 DOID_0080076 [A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.]
hypophosphatemic nephrolithiasis/osteoporosis 1 DOID_0080077 [A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.]
mucolipidosis II alpha/beta DOID_0080070 [A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.]
mucolipidosis III alpha/beta DOID_0080071 [A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.]
intestinal pseudo-obstruction DOID_0080072 [A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.]
spina bifida occulta DOID_0080073 [A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed.]
Abnormal chorioretinal morphology HP_0000532
Kniest dysplasia DOID_0080045 [An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.]
obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy DOID_0081376 [A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.]