Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormal metabolic brain imaging by MRS (HP:0012705)help
..Starting node
..expand
Reduced brain glutamate level by MRS (HP:0031161)help
Term ID: 31161
Name: Reduced brain glutamate level by MRS
Synonym:
Definition: An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0031161
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal brain choline level by MRS (HP:0025047) help
..expandAbnormal brain choline/creatine ratio by MRS (HP:0012709) help
..expandAbnormal brain creatine level by MRS (HP:0025049) help
..expandAbnormal brain lactate level by MRS (HP:0025045) help
..expandAbnormal brain N-acetyl aspartate level by MRS (HP:0025052) help
..expandHigh myoinositol in brain by MRS (HP:0025460) help
..expandReduced brain gamma-aminobutyric acid level by MRS (HP:0500021) help
..expandReduced brain glutamine level by MRS (HP:0030980) 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:0031161HP:0031161Reduced brain glutamate level by MRS0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0031161HP:0031161Reduced brain glutamate level by MRS0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81


Genes (2) :GALC PSAP

Diseases (1) :ORPHA:206436
 

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