All terms in DOID

Label Id Description
King Denborough syndrome DOID_0080990 [A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.]
autoimmune cardiomyopathy DOID_0040095 [An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.]
autoimmune glomerulonephritis DOID_0040094 [An autoimmune disease of urogenital tract that is located_in the renal glomerulus.]
autoimmune disease of urogenital tract DOID_0060049 [An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.]
drug-induced lupus erythematosus DOID_0040093 [A lupus erythematosus caused by chronic use of certain drugs.]
juvenile ankylosing spondylitis DOID_0040092 [An ankylosing spondylitis with onset during childhood.]
anauxetic dysplasia 2 DOID_0080962 [A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.]
anauxetic dysplasia DOID_0080942 [A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.]
ureteral lymphoma DOID_14489
anauxetic dysplasia 3 DOID_0080963 [A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.]
intracranial berry aneurysm 1 DOID_0080964 [An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2.]
intracranial berry aneurysm DOID_0060228 [An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.]
intracranial berry aneurysm 2 DOID_0080965 [An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13.]
amelogenesis imperfecta type 2A6 DOID_0080960 [An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32.]
trimethoprim allergy DOID_0040029 [A drug allergy that has_allergic_trigger trimethoprim.]
pemphigoid gestationis DOID_14482 [A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.]
succinylcholine allergy DOID_0040028 [A drug allergy that has_allergic_trigger succinylcholine.]
chorea gravidarum DOID_14483
cyclophosphamide allergy DOID_0040027 [A drug allergy that has_allergic_trigger cyclophosphamide.]
sporotrichosis DOID_14484 [A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.]