Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal metabolic brain imaging by MRS (HP:0012705)

Parent Node:
Abnormal brain choline level by MRS (HP:0025047)

..Starting node
..Reduced brain choline level by MRS (HP:0025048)

Term ID:

25048

Name:

Reduced brain choline level by MRS

Synonym:

Reduced brain choline level by magnetic resonance spectroscopy

Definition:

An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).

Comments:

Reference:

HP:0025048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated brain choline level by MRS (HP:0012706)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025048	HP:0025048	Reduced brain choline level by MRS	0	CL E G H

Genes (0) :

Diseases (0) :

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