Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the cerebrospinal fluid (HP:0002921)help
Parent Node:
expandAbnormal circulating biopterin concentration (HP:0040210)help
Parent Node:
expandAbnormal CSF metabolite level (HP:0025454)help
..Starting node
..expandAbnormal CSF biopterin level (HP:0040207)help
Term ID: 40207
Name: Abnormal CSF biopterin level
Synonym: Abnormal cerebrospinal fluid biopterin level
Definition: Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).
Comments:
Reference: HP:0040207
Genes and Diseases:
 
       Child Nodes:
........expandElevated CSF biopterin level (HP:0040208) help
........expandDecreased CSF biopterin level (HP:0040209) help

 Sister Nodes: 
..expandAbnormal CSF dopamine level (HP:0012654) help
..expandAbnormal CSF glucose level (HP:0031884) help
..expandAbnormal CSF lactate level (HP:0030085) help
..expandAbnormal CSF neopterin level (HP:0040203) help
..expandDecreased CSF 5-hydroxyindolacetic acid (HP:0025455) help
..expandDecreased CSF 5-methyltetrahydrofolate concentration (HP:0012446) help
..expandDecreased CSF homovanillic acid (HP:0003785) help
..expandDecreased level of erythritol in CSF (HP:0410056) help
..expandIncreased CSF interferon alpha (HP:0009709) help
..expandIncreased level of D-threitol in CSF (HP:0410058) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040207HP:0040207Abnormal CSF biopterin level0 CL E G H
HP:0040207HP:0040208Elevated CSF biopterin level1 CL E G H
HP:0040207HP:0040209Decreased CSF biopterin level1 CL E G H


Genes (0) :

Diseases (0) :
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.