All terms in HP
Label | Id | Description |
---|---|---|
cellular response to stimulus | GO_0051716 | [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell.] |
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.] |
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.] |
Femoral bowing | HP_0002980 | [Bowing (abnormal curvature) of the femur.] |
regulation of response to extracellular stimulus | GO_0032104 | [Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus.] |
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.] |
Bird-like facies | HP_0000320 | |
positive regulation of response to external stimulus | GO_0032103 | [Any process that activates, maintains or increases the rate of a response to an external stimulus.] |
Square face | HP_0000321 | [Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.] |
Tibial bowing | HP_0002982 | [A bending or abnormal curvature of the tibia.] |
Decreased serum complement C9 | HP_0012308 | [A reduced level of the complement component C9 in circulation.] |
Complement deficiency | HP_0004431 | [An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.] |
Spatulate ribs | HP_0012307 | [Ribs that are increased in width and taper to the posterior ends.] |
Broad ribs | HP_0000885 | [Increased width of ribs] |
Abnormal rib ossification | HP_0012306 | [An anomaly of the process of rib bone formation.] |
Abnormal enchondral ossification | HP_0003336 | [An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.] |