Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the cerebrospinal fluid (HP:0002921)help
Parent Node:
expandAbnormal CSF metabolite level (HP:0025454)help
..Starting node
..expandDecreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)help
Term ID: 12446
Name: Decreased CSF 5-methyltetrahydrofolate concentration
Synonym: Cerebral folate deficiency; Low CSF 5-methyltetrahydrofolate; Reduced CSF 5-methyltetrahydrofolate concentration
Definition: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.
Comments:
Reference: HP:0012446
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal CSF biopterin level (HP:0040207) help
..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 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:0012446HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration0 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.