Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
viral labyrinthitis	DOID_12357	[A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.]
amelogenesis imperfecta type 1E	DOID_0110058	[An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).]
mucopolysaccharidosis Ih/s	DOID_0111389	[A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.]
chronic duodenal ileus	DOID_13687
obsolete bacterial prostatitis	DOID_12356
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	DOID_0110059	[An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.]
prostatocystitis	DOID_12355
familial isolated hypoparathyroidism	DOID_0111387	[A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3.]
hypoparathyroidism	DOID_11199	[A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.]
amelogenesis imperfecta type 1C	DOID_0110056	[An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).]
amelogenesis imperfecta type 2A1	DOID_0110057	[An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.]
X-linked hypoparathyroidism	DOID_0111388	[A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.]
B- and T-cell mixed leukemia	DOID_9953
measles	DOID_8622	[A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.]
obsolete reticulosarcoma involving intrapelvic lymph nodes	DOID_8620
obsolete postherpetic trigeminal neuralgia	DOID_8625	[A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain.]
periostitis	DOID_9957	[A connective tissue disease characterized by inflammation located_in the periosteum of the bone.]
obsolete Sezary's disease involving spleen	DOID_8626
hypoplastic left heart syndrome	DOID_9955	[A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.]
obsolete adhesions and disruptions of pupillary membranes	DOID_8623