All terms in DOID

Label Id Description
primary ciliary dyskinesia 1 DOID_0110594 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.]
autosomal dominant nonsyndromic deafness 7 DOID_0110591 [An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23.]
obsolete Transient hypertension of pregnancy DOID_1257
autosomal dominant nonsyndromic deafness 70 DOID_0110592 [An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.]
autosomal dominant nonsyndromic deafness 69 DOID_0110590 [An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.]
chondroblast CL_0000058
trichostrongylosis DOID_1254 [A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.]
fibroblast CL_0000057
obsolete Enoplea infectious disease DOID_1253 [A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands.]
trichuriasis DOID_1252 [A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.]
tuberculous epididymitis DOID_1251 [An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.]
primary ciliary dyskinesia 3 DOID_0110599 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.]
primary ciliary dyskinesia 22 DOID_0110597 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.]
primary ciliary dyskinesia 14 DOID_0110598 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.]
Stromme syndrome DOID_0110595 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.]
primary ciliary dyskinesia 21 DOID_0110596 [A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.]
acatalasia DOID_2582 [A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.]
obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis DOID_2584
obsolete nephrotic syndrome with lesion of segmental hyalinosis DOID_2585
obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis DOID_2586