All terms in DOID

Label Id Description
posterior polymorphous corneal dystrophy 3 DOID_0110857 [A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.]
obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb DOID_9037
lambda 5 deficiency DOID_0060024 [A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.]
immunodeficiency with hyper IgM type 3 DOID_0060023 [A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.]
CD40 ligand deficiency DOID_0060022 [A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.]
DNA ligase IV deficiency DOID_0060021 [A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.]
reticular dysgenesis DOID_0060020 [A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.]
jaw-winking syndrome DOID_560 [A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw.]
holoprosencephaly 4 DOID_0110880 [A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11.]
inflammatory bowel disease 12 DOID_0110887 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3.]
inflammatory bowel disease 18 DOID_0110888 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1.]
inflammatory bowel disease 10 DOID_0110885 [An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37.]
inflammatory bowel disease 9 DOID_0110886 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26.]
acute pyelonephritis DOID_559
inflammatory bowel disease 17 DOID_0110883 [An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3.]
obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites DOID_9010
inflammatory bowel disease 23 DOID_0110884 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1.]
holoprosencephaly 1 DOID_0110881 [A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.]
inflammatory bowel disease 7 DOID_0110882 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36.]
obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen DOID_9001