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 creatine level by MRS (HP:0025049)help
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Reduced brain creatine level by MRS (HP:0025051)help
Term ID: 25051
Name: Reduced brain creatine level by MRS
Synonym: Low brain creatine phosphate; Reduced brain creatine level by magnetic resonance spectroscopy
Definition: A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
Comments:
Reference: HP:0025051
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated brain creatine level by MRS (HP:0025050) 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:0025051HP:0025051Reduced brain creatine level by MRS0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0025051HP:0025051Reduced brain creatine level by MRS0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 386
HP:0025051HP:0025051Reduced brain creatine level by MRS0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122


Genes (3) :GAMT GATM SLC6A8

Diseases (3) :OMIM:612736 OMIM:612718 OMIM:300352
 

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