All terms in HP

Label Id Description
Short philtrum HP_0000322 [Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.]
Hypoplasia of the radius HP_0002984 [Underdevelopment of the radius.]
Aplasia/Hypoplasia of the radius HP_0006501 [A small/hypoplastic or absent/aplastic radius.]
Forearm undergrowth HP_0009821 [Forearm shortening because of underdevelopment of one or more bones of the forearm.]
signal transduction GO_0007165 [The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.]
Facial asymmetry HP_0000324 [An abnormal difference between the left and right sides of the face.]
Elbow flexion contracture HP_0002987 [An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.]
Elbow contracture HP_0034391 [A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.]
Radial bowing HP_0002986 [A bending or abnormal curvature of the radius.]
Abnormal shape of the radius HP_0045008
Bowed forearm bones HP_0003956 [A bending or abnormal curvature affecting either the radius, the ulna, or both.]
Triangular face HP_0000325 [Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.]
regulation of monoatomic ion transmembrane transport GO_0034765 [Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.]
regulation of monoatomic ion transport GO_0043269 [Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.]
negative regulation of response to external stimulus GO_0032102 [Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus.]
negative regulation of monoatomic ion transmembrane transport GO_0034766 [Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.]
negative regulation of monoatomic ion transport GO_0043271 [Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.]
Femoral bowing HP_0002980 [Bowing (abnormal curvature) of the femur.]
Micromelia HP_0002983 [The presence of abnormally small extremities.]
Limb undergrowth HP_0009826 [Limb shortening because of underdevelopment of one or more bones of the extremities.]