All terms in DOID

Label Id Description
YAP1-MAMLD1 fusion-positive supratentorial ependymoma DOID_0080891 [A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion.]
obsolete alveolar soft part sarcoma metastatic DOID_5317 [An alveolar soft part sarcoma that has spread to other parts of the body.]
obsolete alveolar soft part sarcoma nonmetastatic DOID_5316 [An alveolar soft part sarcoma that has not spread to other parts of the body.]
obsolete helicobacter pylori-related gastric adenocarcinoma DOID_7979
adult pineoblastoma DOID_6648
primary ovarian insufficiency 6 DOID_0080863 [A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13.]
nuclear type mitochondrial complex I deficiency 5 DOID_0112068 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.]
primary ovarian insufficiency 7 DOID_0080864 [A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.]
nuclear type mitochondrial complex I deficiency 25 DOID_0112067 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.]
stroma-dominant and stroma-poor composite ganglioneuroblastoma DOID_7949
obsolete unknown primary adenocarcinoma DOID_6618
primary ovarian insufficiency 8 DOID_0080865 [A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22.]
nuclear type mitochondrial complex I deficiency 6 DOID_0112066 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.]
primary ovarian insufficiency 9 DOID_0080866 [A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22.]
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis DOID_0112064 [A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.]
primary ovarian insufficiency 3 DOID_0080860 [A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22.]
X-Linked immunodeficiency 74 DOID_0112063 [A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.]
primary ovarian insufficiency 4 DOID_0080861 [A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11.]
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia DOID_0112062 [A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12.]
primary ovarian insufficiency 5 DOID_0080862 [A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35.]