All terms in DOID

Label Id Description
Actinobacillus NCBITaxon_713
autosomal dominant nonsyndromic deafness 48 DOID_0110571 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14.]
autosomal dominant nonsyndromic deafness 49 DOID_0110572 [An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23.]
autosomal dominant nonsyndromic deafness 47 DOID_0110570 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21.]
tolosa-hunt syndrome DOID_1278
obsolete Pneumovirus infectious disease DOID_1275 [A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions.]
autosomal dominant nonsyndromic deafness 53 DOID_0110579 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12.]
respiratory syncytial virus infectious disease DOID_1273 [A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.]
telangiectasis DOID_1272
autosomal dominant nonsyndromic deafness 51 DOID_0110577 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.]
obsolete autosomal dominant nonsyndromic deafness 52 DOID_0110578 [An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32.]
hereditary hemorrhagic telangiectasia DOID_1270 [A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.]
autosomal dominant nonsyndromic deafness 5 DOID_0110575 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.]
autosomal dominant nonsyndromic deafness 50 DOID_0110576 [An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32.]
autosomal dominant nonsyndromic deafness 4A DOID_0110573 [An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.]
autosomal dominant nonsyndromic deafness 4B DOID_0110574 [An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.]
nephrotic syndrome type 24 DOID_0061194 [A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21.]
proximal renal tubular acidosis-ocular anomaly syndrome DOID_0061195 [A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.]
renal tubular acidosis DOID_14219 [A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.]
Mietens syndrome DOID_0061196 [A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.]