Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| beta_bulge | SO_0001107 | [A motif of three residues within a beta-sheet in which the main chains of two consecutive residues are H-bonded to that of the third, and in which the dihedral angles are as follows: Residue(i): -140 degrees < phi(l) -20 degrees , -90 degrees < psi(l) < 40 degrees. Residue (i+1): -180 degrees < phi < -25 degrees or +120 degrees < phi < +180 degrees, +40 degrees < psi < +180 degrees or -180 degrees < psi < -120 degrees.] |
| asx_motif | SO_0001106 | [A motif of five consecutive residues and two H-bonds in which: Residue(i) is Aspartate or Asparagine (Asx), side-chain O of residue(i) is H-bonded to the main-chain NH of residue(i+2) or (i+3), main-chain CO of residue(i) is H-bonded to the main-chain NH of residue(i+3) or (i+4).] |
| polypeptide_ligand_contact | SO_0001105 | [Residues which interact with a ligand.] |
| ligand_binding_site | SO_0001657 | [A binding site that, in the molecule, interacts selectively and non-covalently with a small molecule such as a drug, or hormone.] |
| catalytic_residue | SO_0001104 | [Amino acid involved in the activity of an enzyme.] |
| amino_acid | SO_0001237 | [A sequence feature that corresponds to a single amino acid residue in a polypeptide.] |
| polypeptide_zinc_ion_contact_site | SO_0001103 | [A binding site that, in the polypeptide molecule, interacts selectively and non-covalently with zinc ions.] |
| parallel_beta_strand | SO_0001113 | [A peptide region which hydrogen bonded to another region of peptide running in the oposite direction (both running N-terminal to C-terminal). This orientation is slightly less stable because it introduces nonplanarity in the inter-strand hydrogen bonding pattern. Hydrogen bonding occurs between every other C=O from one strand to every other N-H on the adjacent strand. In this case, if two atoms C-alpha (i)and C-alpha (j) are adjacent in two hydrogen-bonded beta strands, then they do not hydrogen bond to each other; rather, one residue forms hydrogen bonds to the residues that flank the other (but not vice versa). For example, residue i may form hydrogen bonds to residues j - 1 and j + 1; this is known as a wide pair of hydrogen bonds. By contrast, residue j may hydrogen-bond to different residues altogether, or to none at all. The dihedral angles (phi, psi) are about (-120 degrees, 115 degrees) in parallel sheets.] |
| beta_strand | SO_0001111 | [A beta strand describes a single length of polypeptide chain that forms part of a beta sheet. A single continuous stretch of amino acids adopting an extended conformation of hydrogen bonds between the N-O and the C=O of another part of the peptide. This forms a secondary protein structure in which two or more extended polypeptide regions are hydrogen-bonded to one another in a planar array.] |
| antiparallel_beta_strand | SO_0001112 | [A peptide region which hydrogen bonded to another region of peptide running in the oposite direction (one running N-terminal to C-terminal and one running C-terminal to N-terminal). Hydrogen bonding occurs between every other C=O from one strand to every other N-H on the adjacent strand. In this case, if two atoms C-alpha (i) and C-alpha (j) are adjacent in two hydrogen-bonded beta strands, then they form two mutual backbone hydrogen bonds to each other's flanking peptide groups; this is known as a close pair of hydrogen bonds. The peptide backbone dihedral angles (phi, psi) are about (-140 degrees, 135 degrees) in antiparallel sheets.] |
| salt and pepper syndrome | DOID_0060470 | [A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.] |
| fetal valproate syndrome | DOID_0060471 | [A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.] |
| beta_bulge_loop_six | SO_0001110 | [A motif of three residues within a beta-sheet consisting of two H-bonds in which: the main-chain NH of residue(i) is H-bonded to the main-chain CO of residue(i+5), the main-chain CO of residue i is H-bonded to the main-chain NH of residue(i+4), these loops have an RL nest at residues i+3 and i+4.] |
| Kindler syndrome | DOID_0060472 | [A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.] |
| Kabuki syndrome | DOID_0060473 | [A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.] |
| familial erythrocytosis 2 | DOID_0060474 | [A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.] |
| primary polycythemia | DOID_10780 | [A polycythemia that_has_material_basis in factors intrinsic to red cell precursors.] |
| childhood onset epileptic encephalopathy | DOID_0060475 | [An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.] |
| idiopathic generalized epilepsy | DOID_1827 | [An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.] |
| Matonaviridae | NCBITaxon_2560066 |