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 circulating lipid concentration (HP:0003119)

Parent Node:
Abnormal circulating fatty-acid concentration (HP:0004359)

..Starting node
..Elevated circulating palmitoleylcarnitine concentration (HP:0031544)

Term ID:

31544

Name:

Elevated circulating palmitoleylcarnitine concentration

Synonym:

Elevated circulating O-propionylcarnitine concentration; Elevated plasma palmitoleylcarnitine, C16:1; Elevated plasma propionylcarnitine, C3:0; Elevated propionylcarnitine level

Definition:

An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.

Comments:

Reference:

HP:0031544

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating fatty-acid anion concentration (HP:0010966)

Abnormal circulating free fatty acid concentration (HP:0040300)

Abnormal circulating long-chain fatty-acid concentration (HP:0010964)

Abnormal circulating unsaturated fatty acid concentration (HP:0011022)

obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA (HP:0003490)

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:0031544	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0031544	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0031544	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101

Genes (3) :LMBRD1 MCEE MMACHC

Diseases (3) :ORPHA:79284 OMIM:251120 ORPHA:79282

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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