All terms in DOID

Label Id Description
infiltrating renal pelvis transitional cell carcinoma DOID_0050620 [A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis.]
gastrointestinal neuroendocrine tumor DOID_0050626 [A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells.]
obsolete benign hypertensive heart disease DOID_1954
familial atrial fibrillation DOID_0050650 [An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.]
atrial fibrillation DOID_0060224 [A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.]
obsolete soft tissue cancer DOID_0050652
atrioventricular septal defect DOID_0050651 [A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.]
hereditary spastic paraplegia 48 DOID_0110800 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.]
serosa of uterus UBERON_0001297
renal pelvis UBERON_0001224
hereditary spastic paraplegia 55 DOID_0110807 [A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24.]
hereditary spastic paraplegia 56 DOID_0110808 [A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.]
hereditary spastic paraplegia 53 DOID_0110805 [A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22.]
hereditary spastic paraplegia 54 DOID_0110806 [A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.]
hereditary spastic paraplegia 51 DOID_0110803 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21.]
hereditary spastic paraplegia 52 DOID_0110804 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12.]
hereditary spastic paraplegia 49 DOID_0110801 [A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32.]
hereditary spastic paraplegia 50 DOID_0110802 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.]
supravalvular aortic stenosis DOID_1929 [An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.]
Baller-Gerold syndrome DOID_0050654 [A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.]