Human Phenotype Ontology 
Grandparent Node:
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Abnormal metabolic brain imaging by MRS (HP:0012705)help
Parent Node:
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Abnormal brain N-acetyl aspartate level by MRS (HP:0025052)help
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Elevated brain N-acetyl aspartate level by MRS (HP:0025053)help
Term ID: 25053
Name: Elevated brain N-acetyl aspartate level by MRS
Synonym: Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy
Definition: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0025053
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandReduced brain N-acetyl aspartate level by MRS (HP:0012708) 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:0025053HP:0025053Elevated brain N-acetyl aspartate level by MRS0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0025053HP:0025053Elevated brain N-acetyl aspartate level by MRS0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0025053HP:0025053Elevated brain N-acetyl aspartate level by MRS0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0025053HP:0025053Elevated brain N-acetyl aspartate level by MRS0FOCAD CL E G H5491423377OMIM:6199913
HP:0025053HP:0025053Elevated brain N-acetyl aspartate level by MRS0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27


Genes (4) :ASPA FARS2 FOCAD SLC35A2

Diseases (5) :OMIM:271900 ORPHA:314911 OMIM:614946 OMIM:619991 ORPHA:356961
 

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