Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete tuberculous encephalitis	DOID_0050123
Abnormality of muscle size	HP_0030236	[Abnormalities of the overall muscle bulk based on clinical observation.]
distal arthrogryposis type 2B3	DOID_0111602	[A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1.]
distal arthrogryposis type 2B	DOID_0111599	[A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.]
distal arthrogryposis type 7	DOID_0111603	[A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1.]
distal arthrogryposis type 2B1	DOID_0111600	[A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5.]
distal arthrogryposis type 2B2	DOID_0111601	[A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNT3 on chromosome 11p15.5.]
maxillary sinus adenoid cystic carcinoma	DOID_7198
red-green color blindness	DOID_13909
distal arthrogryposis type 5	DOID_0111608	[A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21.]
obsolete malignant pleural effusion	DOID_13906
distal arthrogryposis type 6	DOID_0111609	[A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.]
autosomal recessive Whistling face syndrome	DOID_0111606	[A Freeman-Sheldon syndrome that has autosomal recessive inheritance.]
Freeman-Sheldon syndrome	DOID_0111604	[A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.]
distal arthrogryposis type 3	DOID_0111607	[A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.]
white piedra	DOID_13902	[A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.]
distal arthrogryposis type 2A	DOID_0111605	[A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1.]
obsolete Tahyna virus encephalitis	DOID_0050126	[A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.]
dengue shock syndrome	DOID_0050125	[A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.]
paranasal sinus disease	DOID_1352