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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Abnormal brain choline level by MRS (HP:0025047)help
Term ID: 25047
Name: Abnormal brain choline level by MRS
Synonym: Abnormal brain choline level by magnetic resonance spectroscopy
Definition: A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0025047
Genes and Diseases:
 
       Child Nodes:
........expandElevated brain choline level by MRS (HP:0012706) help
........expandReduced brain choline level by MRS (HP:0025048) help

 Sister Nodes: 
..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 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:0025047HP:0025047Abnormal brain choline level by MRS0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0025047HP:0025047Abnormal brain choline level by MRS0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0025047HP:0025047Abnormal brain choline level by MRS0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0025047HP:0025047Abnormal brain choline level by MRS0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0025047HP:0025047Abnormal brain choline level by MRS0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0025047HP:0025047Abnormal brain choline level by MRS0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0025047HP:0025047Abnormal brain choline level by MRS0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025047HP:0025047Abnormal brain choline level by MRS0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0025047HP:0025048Reduced brain choline level by MRS1 CL E G H
HP:0025047HP:0012706Elevated brain choline level by MRS1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0025047HP:0012706Elevated brain choline level by MRS1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0025047HP:0012706Elevated brain choline level by MRS1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0025047HP:0012706Elevated brain choline level by MRS1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0025047HP:0012706Elevated brain choline level by MRS1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0025047HP:0012706Elevated brain choline level by MRS1NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0025047HP:0012706Elevated brain choline level by MRS1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0025047HP:0012706Elevated brain choline level by MRS1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81


Genes (8) :CNP CYP27A1 GALC GRM7 NAXE NDUFAF6 NGLY1 PSAP

Diseases (7) :OMIM:619071 ORPHA:909 ORPHA:206436 OMIM:618922 OMIM:617186 OMIM:618239 OMIM:615273
 

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