All terms in HP

Label Id Description
Reduced tissue gamma-glutamyltransferase activity HP_6000578 [Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP_6000577 [Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.]
Progressive cervical vertebral spine fusion HP_0008449
Hypoplastic coccygeal vertebrae HP_0008447
Cervical spinal canal stenosis HP_0008445 [An abnormal narrowing of the cervical spinal canal.]
Posterior wedging of vertebral bodies HP_0008444 [An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).]
Neuropathic spinal arthropathy HP_0008443 [A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.]
Vertebral hyperostosis HP_0008442 [Excessive growth of the bones of the vertebral bodies.]
Herniation of intervertebral nuclei HP_0008441 [The presence of one or more herniated nucleus pulposus of intervertebral disk.]
alpha,beta-unsaturated ketone CHEBI_51721 [A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position.]
Reduced tissue thymidine phosphorylase activity HP_6000570 [Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.]
Reduced tissue arginine:glycine amidinotransferase activity HP_6000572 [Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Reduced tissue tripeptidyl peptidase 1 activity HP_6000571 [Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.]
Reduced sepiapterin reductase activity in cultured fibroblasts HP_6000563 [Activity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.]
Reduced circulating adenosine deaminase-2 activity HP_6000562 [Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.]
Elevated circulating cholesterol sulfate concentration HP_6000565 [The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal.]
Elevated circulating vasoactive intestinal peptide concentration HP_6000564 [The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.]
5-aminolevulinate CHEBI_12109
Elevated circulating oxalate concentration HP_6000567 [The concentration of oxalate in the blood circulation is above the upper limit of normal.]
Elevated circulating lipoprotein-X concentration HP_6000566 [The concentration of lipoprotein-X in the blood circulation is above the upper limit of normal.]