Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal circulating carbohydrate concentration (HP:0011013)help
..Starting node
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Increased level of D-threitol in plasma (HP:0410057)help
Term ID: 410057
Name: Increased level of D-threitol in plasma
Synonym:
Definition: An increase in the level of D-threitol in the plasma.
Comments:
Reference: HP:0410057
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal circulating glycerol level (HP:0031795) help
..expandAbnormal circulating polysaccharide concentration (HP:0011012) help
..expandAbnormal glucose homeostasis (HP:0011014) help
..expandAbnormal glucose-6-phosphate dehydrogenase level (HP:0410176) help
..expandAbnormal glycosylation (HP:0012345) help
..expandAbnormality of glycolysis (HP:0004366) help
..expandAbnormality of glycoside metabolism (HP:0003649) help
..expandDecreased CSF erythritol concentration (HP:0410056) help
..expandDecreased level of 1,5 anhydroglucitol in serum (HP:0410050) help
..expandDecreased level of D-mannose in urine (HP:0410060) help
..expandDecreased level of erythritol in urine (HP:0410055) help
..expandElevated circulating ribitol concentration (HP:0025550) help
..expandGlycopeptiduria (HP:0012067) help
..expandGlyoxalase deficiency (HP:0003258) help
..expandImpairment of fructose metabolism (HP:0011033) help
..expandImpairment of galactose metabolism (HP:0004915) help
..expandIncreased level of D-threitol in CSF (HP:0410058) help
..expandIncreased level of D-threitol in urine (HP:0410059) help
..expandIncreased level of galactitol in plasma (HP:0410061) help
..expandIncreased level of galactitol in red blood cells (HP:0410064) help
..expandIncreased level of galactitol in urine (HP:0410062) help
..expandIncreased level of L-fucose in urine (HP:0410067) help
..expandIncreased level of N-acetylneuraminic acid in fibroblasts (HP:0410157) help
..expandIncreased level of N-acetylneuraminic acid in urine (HP:0410156) help
..expandIncreased level of ribitol in CSF (HP:0410071) help
..expandIncreased level of ribitol in urine (HP:0410070) help
..expandIncreased level of ribose in CSF (HP:0410073) help
..expandIncreased level of ribose in urine (HP:0410072) help
..expandIncreased level of xylitol in CSF (HP:0410075) help
..expandIncreased level of xylitol in urine (HP:0410074) help
..expandIncreased urinary sedoheptulose (HP:0025157) help
..expandOligosacchariduria (HP:0010471) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410057HP:0410057Increased level of D-threitol in plasma0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency18


Genes (1) :RPIA

Diseases (1) :OMIM:608611
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.