All terms in DOID

Label Id Description
platelet-type bleeding disorder 14 DOID_0111047 [A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.]
muscular dystrophy-dystroglycanopathy type B14 DOID_0112377 [A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.]
Axenfeld-Rieger syndrome DOID_14686 [An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.]
congenital nonspherocytic hemolytic anemia 2 DOID_0111077 [A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.]
diffuse interstitial keratitis DOID_13353
interstitial keratitis DOID_9857 [A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation.]
obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease DOID_12022
diastrophic dysplasia DOID_14687 [An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.]
tibial muscular dystrophy DOID_0111078 [A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.]
obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes DOID_12021
ego-dystonic sexual orientation DOID_13352 [A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.]
progressive familial heart block type II DOID_0111075 [A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.]
progressive familial heart block DOID_0111073 [A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.]
obsolete malignant neoplasm of corpus uteri, except isthmus DOID_12020
pedophilia DOID_13351
progressive familial heart block type IB DOID_0111076 [A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.]
obsolete gender identity disorder in children DOID_13350
progressive familial heart block type IA DOID_0111074 [A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.]
congenital bile acid synthesis defect 1 DOID_0111071 [A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.]
congenital bile acid synthesis defect DOID_0050674 [A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.]