Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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 and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.]
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 ompound 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.]
obsolete bronchogenic lung adenocarcinoma	DOID_3909
congenital myasthenic syndrome 18	DOID_0110683	[A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.]
Buruli ulcer disease	DOID_0050456	[A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.]
obsolete arachnodactyly	DOID_0050455
juvenile myelomonocytic leukemia	DOID_0050458	[A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.]
hyperphosphatemia	DOID_0050459	[A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.]
congenital myasthenic syndrome 9	DOID_0110670	[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.]
congenital myasthenic syndrome 6	DOID_0110671	[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.]