All terms in DOID

Label Id Description
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 the PIEZO2 gene 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 the MYH3 gene 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 (Orthoflavivirus denguei), 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
acquired color blindness DOID_13912
autosomal dominant limb-girdle muscular dystrophy type 2 DOID_0110304 [An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.]
autosomal dominant limb-girdle muscular dystrophy DOID_0110273 [A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance.]
autosomal recessive nonsyndromic deafness 57 DOID_0111635 [An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.]
autosomal recessive nonsyndromic deafness 113 DOID_0111636 [An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.]
autosomal dominant limb-girdle muscular dystrophy type 1 DOID_0110305 [An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.]
red color blindness DOID_13910
congenital sucrase-isomaltase deficiency DOID_0111633 [A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.]
obsolete autosomal dominant limb-girdle muscular dystrophy type 1C DOID_0110302
Galliformes NCBITaxon_8976