Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| alanine_tRNA_primary_transcript | SO_0000211 | [A primary transcript encoding alanyl tRNA.] |
| cryptic_splice_site | SO_0001533 | [A splice site that is in part of the transcript not normally spliced. They occur via mutation or transcriptional error.] |
| obsolete primary Fusobacteriaceae infectious disease | DOID_563 | |
| nuclear_rim_localization_signal | SO_0001534 | [A polypeptide region that targets a polypeptide to the nuclear rim.] |
| obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb | DOID_9033 | |
| p_element | SO_0001535 | [A P_element is a DNA transposon responsible for hybrid dysgenesis.] |
| polycystic kidney disease 1 | DOID_0110858 | [A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.] |
| polycystic kidney disease 2 | DOID_0110859 | [A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.] |
| obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck | DOID_9039 | |
| posterior polymorphous corneal dystrophy 2 | DOID_0110856 | [A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.] |
| 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 | |
| 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.] |