All terms in DOID

Label Id Description
cytochrome P450 oxidoreductase deficiency DOID_0080925 [A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2.]
Malasseziaceae NCBITaxon_742845
Malasseziales NCBITaxon_162474
unilateral focal polymicrogyria DOID_0080919 [A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.]
primary localized cutaneous amyloidosis 1 DOID_0080930 [A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.]
primary cutaneous amyloidosis DOID_0050639 [An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.]
primary localized cutaneous amyloidosis 2 DOID_0080931 [A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11.]
primary localized cutaneous amyloidosis 3 DOID_0080932 [A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.]
Phasianidae NCBITaxon_9005
wild-type amyloidosis DOID_0080937 [An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.]
nonobstructive coronary artery disease DOID_0080938 [A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.]
hereditary angioedema type I DOID_0080939 [A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.]
immunoglobulin light chain amyloidosis DOID_0080933 [An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.]
immunoglobulin heavy chain amyloidosis DOID_0080934 [An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm.]
immunoglobulin heavy-and-light chain DOID_0080935 [An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.]
serum amyloid A amyloidosis DOID_0080936 [An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body.]
mitochondrial type mitochondrial complex I deficiency 1 DOID_0112101 [A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome.]
mitochondrial type mitochondrial complex I deficiency DOID_0112100 [A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.]
spermatogenic failure 44 DOID_0112109 [A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1.]
myxomatous pattern testicular yolk sac tumor DOID_8081