All terms in DOID

Label Id Description
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.]
Chorioretinal lacunae HP_0007858
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.]
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 the COL4A1 gene 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 the PITX2 gene 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 [A cleft palate that is characterized as 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 the LHCGR gene 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.]
Charcot-Marie-Tooth disease X-linked recessive 4 DOID_0110212 [A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.]
Charcot-Marie-Tooth disease type X DOID_0050542 [A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.]
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 the SMAD4 gene on chromosome 18q21.2.]
Guttmacher syndrome DOID_0111544 [A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.]
isolated cleft palate DOID_0110213 [A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.]