All terms in DOID

Label Id Description
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia DOID_0112061 [A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1.]
primary ovarian insufficiency 10 DOID_0080867 [A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p.]
primary ovarian insufficiency 11 DOID_0080868 [A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.]
primary ovarian insufficiency 12 DOID_0080869 [A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26.]
nuclear type mitochondrial complex I deficiency 22 DOID_0112069 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.]
nuclear type mitochondrial complex I deficiency 31 DOID_0112071 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33.]
vaginal villous adenoma DOID_6613 [A vaginal adenoma that is a polyp that resembles colorectal villous adenoma.]
nuclear type mitochondrial complex I deficiency 18 DOID_0112070 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.]
bone epithelioid hemangioma DOID_6610
bone benign neoplasm DOID_0060094 [A connective tissue benign neoplasm that is located_in bone.]
Barrett's adenocarcinoma DOID_7941
adult central nervous system mixed germ cell tumor DOID_7945 [A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells.]
obsolete recurrent cancer of colon DOID_7946
primary ovarian insufficiency 17 DOID_0080874 [A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.]
non-syndromic X-linked intellectual disability 42 DOID_0112057 [A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26.]
X-linked intellectual disability-short stature-overweight syndrome DOID_0112056 [A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25.]
nipple carcinoma DOID_6629 [A breast carcinoma that is located_in the nipple.]
IDH-wildtype anaplastic astrocytoma DOID_0080876 [An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.]
non-syndromic X-linked intellectual disability 46 DOID_0112055 [A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26.]
astrocytoma, IDH-mutant, grade 4 DOID_0080877 [An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.]