All terms in DOID

Label Id Description
immunodeficiency 35 DOID_0111989 [A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.]
congenital myasthenic syndrome 15 DOID_0110658 [A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.]
congenital myasthenic syndrome 7 DOID_0110659 [A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.]
obsolete enteroaggregative Escherichia coli infectious disease DOID_0050423
obsolete Yersinia pseudotuberculosis gastroenteritis DOID_0050422
restless legs syndrome DOID_0050425 [A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.]
Tabanidae NCBITaxon_7205
Stevens-Johnson syndrome DOID_0050426 [A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.]
juxtacortical chondroma DOID_2601
Hailey-Hailey disease DOID_0050429 [A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.]
anterior compartment syndrome DOID_3933
congenital myasthenic syndrome 2A DOID_0110681 [A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.]
vulvitis DOID_3901 [A vulvar disease that is characterized by inflammation of the vulva.]
congenital myasthenic syndrome 16 DOID_0110682 [A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.]
obsolete pseudorabies DOID_3902 [A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle.]
Gitelman syndrome DOID_0050450 [A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).]
congenital myasthenic syndrome 2C DOID_0110680 [A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.]
bronchus carcinoma DOID_3904 [A bronchus cancer that has_material_basis_in epithelial cells.]
mevalonic aciduria DOID_0050452 [A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.]
periventricular nodular heterotopia DOID_0050454 [A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.]