All terms in DOID

Label Id Description
susceptibility to familial thoracic aortic aneurysm 11 MIM_617349
skin of body UBERON_0002097
Tangier disease DOID_1388 [A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.]
abetalipoproteinemia DOID_1386 [A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.]
interventricular septum UBERON_0002094
obsolete Chlamydia trachomatis urethritis DOID_1384
Fox-Fordyce disease DOID_1381 [A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.]
Dothideomycetes NCBITaxon_147541
Pleosporomycetidae NCBITaxon_451868
osteoarthritis susceptibility 2 MIM_140600
susceptibility to psoriasis 6 MIM_605364
Eurotiomycetes NCBITaxon_147545
primary lacrimal atrophy DOID_1399
Schwann cell CL_0002573
Abnormality of vitamin B12 metabolism HP_0004341
Abnormality of vitamin B metabolism HP_0004340
Abnormality of vitamin metabolism HP_0100508
urinary schistosomiasis DOID_1394 [A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.]
hypotrichosis 1 DOID_0110698 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.]
hypotrichosis 2 DOID_0110699 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.]