Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Abnormal metabolic brain imaging by MRS (HP:0012705)help
Term ID: 12705
Name: Abnormal metabolic brain imaging by MRS
Synonym:
Definition: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0012705
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal brain choline/creatine ratio by MRS (HP:0012709) help
........expandAbnormal brain lactate level by MRS (HP:0025045) help
................... HP:0012707 Elevated brain lactate level by MRS
................... HP:0025046 Reduced brain lactate level by MRS
........expandAbnormal brain choline level by MRS (HP:0025047) help
................... HP:0012706 Elevated brain choline level by MRS
................... HP:0025048 Reduced brain choline level by MRS
........expandAbnormal brain creatine level by MRS (HP:0025049) help
................... HP:0025050 Elevated brain creatine level by MRS
................... HP:0025051 Reduced brain creatine level by MRS
........expandAbnormal brain N-acetyl aspartate level by MRS (HP:0025052) help
................... HP:0012708 Reduced brain N-acetyl aspartate level by MRS
................... HP:0025053 Elevated brain N-acetyl aspartate level by MRS
........expandHigh myoinositol in brain by MRS (HP:0025460) help
........expandReduced brain glutamine level by MRS (HP:0030980) help
........expandReduced brain glutamate level by MRS (HP:0031161) help
........expandReduced brain gamma-aminobutyric acid level by MRS (HP:0500021) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) 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:0012705HP:0012705Abnormal metabolic brain imaging by MRS0 CL E G H
HP:0012705HP:0031161Reduced brain glutamate level by MRS1 CL E G H
HP:0012705HP:0012709Abnormal brain choline/creatine ratio by MRS1 CL E G H
HP:0012705HP:0025045Abnormal brain lactate level by MRS1 CL E G H
HP:0012705HP:0500021Reduced brain gamma-aminobutyric acid level by MRS1 CL E G H
HP:0012705HP:0025052Abnormal brain N-acetyl aspartate level by MRS1 CL E G H
HP:0012705HP:0025460High myoinositol in brain by MRS1 CL E G H
HP:0012705HP:0030980Reduced brain glutamine level by MRS1 CL E G H
HP:0012705HP:0025047Abnormal brain choline level by MRS1 CL E G H
HP:0012705HP:0025049Abnormal brain creatine level by MRS1 CL E G H
HP:0012705HP:0025053Elevated brain N-acetyl aspartate level by MRS2 CL E G H
HP:0012705HP:0025048Reduced brain choline level by MRS2 CL E G H
HP:0012705HP:0025051Reduced brain creatine level by MRS2 CL E G H
HP:0012705HP:0012706Elevated brain choline level by MRS2 CL E G H
HP:0012705HP:0025050Elevated brain creatine level by MRS2 CL E G H
HP:0012705HP:0025046Reduced brain lactate level by MRS2 CL E G H
HP:0012705HP:0012707Elevated brain lactate level by MRS2 CL E G H
HP:0012705HP:0012708Reduced brain N-acetyl aspartate level by MRS2 CL E G H


Genes (7) :CACNA1G GAMT GATM NGLY1 POLR3A SLC6A8 TBCK

Diseases (7) :615273 447896 458803 612736 612718 300352 616900
 

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