All terms in HP
| Label | Id | Description |
|---|---|---|
| compatible osmolytes | CHEBI_23366 | |
| Cystathioninemia | HP_0003286 | [An increased concentration of cystathionine in the blood.] |
| Factor XIII subunit A deficiency | HP_0040233 | [Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.] |
| Reduced factor XIII activity | HP_0008357 | [Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.] |
| Increased serum ferritin | HP_0003281 | [Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.] |
| Abnormality of alkaline phosphatase activity | HP_0004379 | [An abnormality of alkaline phosphatase activity.] |
| Impaired neutrophil chemotaxis | HP_0040238 | [An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response] |
| Increased plasma vitamin K epoxide after vitamin K supplementation | HP_0040239 | [Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.] |
| Factor XIII subunit B deficiency | HP_0040234 | [Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.] |
| Leukocyte inclusion bodies | HP_0040235 | [The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.] |
| Neutrophil inclusion bodies | HP_0008264 | [The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.] |
| organic polycyclic compound | CHEBI_51958 | |
| Hyperfibrinolysis | HP_0040236 | [Increased degradation of fibrin, associated with clot instability and bleeding] |
| Abnormality of fibrinolysis | HP_0040224 | [Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)] |
| 17alpha-hydroxy steroid | CHEBI_35342 | [The alpha-stereoisomer of 17-hydroxy steroid.] |
| Impaired binding of factor VIII to VWF | HP_0040237 | [Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.] |
| 17beta-hydroxy steroid | CHEBI_35343 | [A 17-hydroxy steroid in which the hydroxy group at position 17 has a beta-configuration.] |
| hydroxy steroid | CHEBI_35350 | |
| 11-hydroxy steroid | CHEBI_36841 | |
| 3beta-hydroxy steroid | CHEBI_36836 | [A 3-hydroxy steroid in which the 3-hydroxy substituent is in the beta-position.] |