Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cerebrospinal fluid morphology (HP:0002921)help
Parent Node:
expandAbnormal circulating carbohydrate concentration (HP:0011013)help
Parent Node:
expandAbnormal CSF metabolite concentration (HP:0025454)help
..Starting node
..expandIncreased level of D-threitol in CSF (HP:0410058)help
Term ID: 410058
Name: Increased level of D-threitol in CSF
Synonym: Increased level of D-threitol in cerebrospinal fluid
Definition: An increase in the level of D-threitol in the cerebrospinal fluid.
Comments:
Reference: HP:0410058
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal CSF biopterin concentration (HP:0040207) help
..expandAbnormal CSF dopamine concentration (HP:0012654) help
..expandAbnormal CSF glucose concentration (HP:0031884) help
..expandAbnormal CSF lactate concentration (HP:0030085) help
..expandAbnormal CSF neopterin concentration (HP:0040203) help
..expandDecreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455) help
..expandDecreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) help
..expandDecreased CSF erythritol concentration (HP:0410056) help
..expandDecreased CSF homovanillic acid concentration (HP:0003785) help
..expandIncreased CSF interferon alpha (HP:0009709) 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:0410058HP:0410058Increased level of D-threitol in CSF0RPIA 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.