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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal enzyme/coenzyme activity (HP:0012379)

..Starting node
..Reduced carnitine O-palmitoyltransferase level (HP:0012380)

Term ID:

12380

Name:

Reduced carnitine O-palmitoyltransferase level

Synonym:

Definition:

Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

Comments:

Reference:

HP:0012380

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aldolase level (HP:0012400)

Abnormal biotinidase level (HP:0410144)

Abnormal erythrocyte enzyme level (HP:0030272)

Abnormal hypoxanthine-guanine phosphoribosyltransferase level (HP:0031821)

Abnormal lactate dehydrogenase level (HP:0045040)

Abnormal superoxide dismutase level (HP:0031835)

Abnormal uridine diphosphate glucose-4-epimerase level (HP:0410192)

Abnormality of alkaline phosphatase level (HP:0004379)

Decreased circulating lipoprotein lipase concentration (HP:0031209)

Decreased lecithin cholesterol acyl transferase level (HP:0025433)

Decreased small intestinal mucosa lactase level (HP:0025130)

Elevated gamma-glutamyltransferase level (HP:0030948)

obsolete Abnormal serum tryptase concentration (HP:0031900)

Platelet-activating factor acetylhydrolase deficiency (HP:0040175)

Reduced catalase level (HP:0012517)

Reduced lysosomal acid lipase activity (HP:0031205)

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:0012380	HP:0012380	Reduced carnitine O-palmitoyltransferase level	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent	101
HP:0012380	HP:0012380	Reduced carnitine O-palmitoyltransferase level	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0012380	HP:0012380	Reduced carnitine O-palmitoyltransferase level	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040281 - Very frequent	101

Genes (1) :CPT2

Diseases (3) :ORPHA:228302 ORPHA:228308 ORPHA:228305

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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