Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete Measles virus encephalitis	DOID_0050184	[A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia.]
Culex <subgenus>	NCBITaxon_53527
obsolete Epstein-Barr virus encephalitis	DOID_0050183	[An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.]
prolidase deficiency	DOID_0111540	[An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11.]
obsolete Cytomegalovirus encephalitis	DOID_0050186	[A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.]
erythema multiforme	DOID_0050185	[A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.]
obsolete coxsackievirus encephalitis	DOID_0050188	[An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma.]
obsolete Rubella virus encephalitis	DOID_0050187	[A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma.]
polygonal cell	CL_0000398
obsolete polioencephalitis	DOID_0050189	[An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.]
retinal arterial tortuosity	DOID_0111547	[An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34.]
Leber congenital amaurosis 11	DOID_0110216	[A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.]
ring dermoid of cornea	DOID_0111548	[A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25.]
Leber congenital amaurosis 17	DOID_0110217	[A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.]
cleft soft palate	DOID_0110214	[Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.]
familial male-limited precocious puberty	DOID_0111545	[An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3.]
Currarino syndrome	DOID_0111546	[A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3.]
Leber congenital amaurosis 5	DOID_0110215	[A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.]
obsolete Colorado tick fever encephalitis	DOID_0050180	[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss.]
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	DOID_0111543	[A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2.]