All terms in DOID

Label Id Description
Leydig cell hypoplasia type I DOID_0112260 [A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.]
obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear DOID_14549
obsolete transsexuality with heterosexual history DOID_13219
primary ovarian insufficiency 18 DOID_0112269 [A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.]
hole retinal cyst DOID_13214
nephrotic syndrome type 22 DOID_0112268 [A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.]
obsolete metastatic cancer to the breast DOID_13213
nephrotic syndrome type 21 DOID_0112267 [A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.]
obsolete macular or paramacular focal retinitis and retinochoroiditis DOID_14542
obsolete metastasis to skin DOID_13212
amine precursor uptake and decarboxylation cell CL_0000568
neuroendocrine cell CL_0000165
homocystinuria-megaloblastic anemia cblE type DOID_0112255 [An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31.]
submucous uterine fibroid DOID_13222 [An uterine fibroid that is located adjacent to the lining of the uterus.]
uterine fibroid DOID_13223 [An uterine benign neoplasm derived from the smooth muscle layer of the uterus.]
hepatic venoocclusive disease with immunodeficiency DOID_0112254 [A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1.]
Foster-Kennedy syndrome DOID_14555
papilledema DOID_146
combined cellular and humoral immune defects with granulomas DOID_0112253 [A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.]
parafollicular cell CL_0000570