All terms in DOID

Label Id Description
von Willebrand's disease DOID_12531 [A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.]
von Willebrand's disease 2 DOID_0060574 [A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.]
sequence sequence
spinal disease DOID_0060564 [A bone disease that is located_in the spine.]
disease DOID_4 [A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.]
bone disease DOID_0080001 [A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.]
monogenic disease DOID_0050177 [A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.]
Trypanosoma cruzi NCBITaxon_5693
Schizotrypanum NCBITaxon_47570
Holzgreve-Wagner-Rehder Syndrome DOID_0060566 [A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.]
erythema elevatum diutinum DOID_0060567 [A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks.]
vasculitis DOID_865 [A vascular disease that is characterized by inflammation of the blood vessels.]
Trypanosoma NCBITaxon_5690
Trypanosomatidae NCBITaxon_5654
hypertrichotic osteochondrodysplasia Cantu type DOID_0060569 [An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.]
osteochondrodysplasia DOID_2256 [A bone development disease that results_in defective development of cartilage or bone.]
lethal congenital contracture syndrome 2 DOID_0060560 [A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.]
obsolete DMD-related dilated cardiomyopathy DOID_0060561 [A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene.]
anomalous left coronary artery from the pulmonary artery DOID_0060562 [A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.]
coronary artery anomaly DOID_11843