All terms in HP

Label Id Description
Spastic paraparetic gait HP_0031958 [A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.]
Hypercitraturia HP_0012406 [A greater than normal concentration of citrate(3-) in the urine.]
Abnormal urine citrate concentration HP_0012404 [A deviation from normal of the concentration of citrate(3-) in the urine.]
Hypocitraturia HP_0012405 [A lower than normal concentration of citrate(3-) in the urine.]
regulation of transmembrane transporter activity GO_0022898 [Any process that modulates the frequency, rate or extent of transmembrane transporter activity.]
bone remodeling GO_0046849 [The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.]
tissue remodeling GO_0048771 [The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling.]
Cortical nephrocalcinosis HP_0012409 [The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).]
Medullary nephrocalcinosis HP_0012408 [The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).]
Decreased urine alpha-ketoglutarate concentration HP_0012403 [A lower than normal concentration of 2-oxoglutaric acid in the urine.]
Abnormal urine alpha-ketoglutarate concentration HP_0012401 [A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.]
hydroxy group CHEBI_43176
inorganic group CHEBI_33246 [Any substituent group which does not contain carbon.]
Increased urine alpha-ketoglutarate concentration HP_0012402 [A greater than normal concentration of 2-oxoglutaric acid in the urine.]
Abnormal circulating aldolase concentration HP_0012400 [An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.]
lactate biosynthetic process GO_0019249 [The chemical reactions and pathways resulting in the formation of lactate, the anion of lactic acid.]
lactate metabolic process GO_0006089 [The chemical reactions and pathways involving lactate, the anion of lactic acid.]
monocarboxylic acid biosynthetic process GO_0072330 [The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group.]
Abnormal morphology of the nasal alae HP_0000429 [An abnormality of the Ala of nose.]
Abnormal external nose morphology HP_0010938 [An abnormality of the external nose.]