Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Elevated brain choline level by MRS (HP:0012706)

Term ID:

12706

Name:

Elevated brain choline level by MRS

Synonym:

Definition:

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

Comments:

Reference:

HP:0012706

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced brain choline level by MRS (HP:0025048)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0012706	HP:0012706	Elevated brain choline level by MRS	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81

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.

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