Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal metabolic brain imaging by MRS (HP:0012705)help
..Starting node
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High myoinositol in brain by MRS (HP:0025460)help
Term ID: 25460
Name: High myoinositol in brain by MRS
Synonym: High myo-inositol in brain by MRS
Definition: An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0025460
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
..expandReduced brain gamma-aminobutyric acid level by MRS (HP:0500021) help
..expandReduced brain glutamate level by MRS (HP:0031161) 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:0025460HP:0025460High myoinositol in brain by MRS0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025460HP:0025460High myoinositol in brain by MRS0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138


Genes (2) :NGLY1 POLR3A

Diseases (2) :OMIM:615273 ORPHA:447896
 

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