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

..Starting node
..Elevated circulating propionylcarnitine concentration (HP:0033443)

Term ID:

33443

Name:

Elevated circulating propionylcarnitine concentration

Synonym:

Definition:

Increased concentration of propionylcarnitine in the blood circulation.

Comments:

Reference:

HP:0033443

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033443	HP:0033443	Elevated circulating propionylcarnitine concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	53
HP:0033443	HP:0033443	Elevated circulating propionylcarnitine concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	46

Genes (2) :ABCD4 LMBRD1

Diseases (2) :OMIM:614857 OMIM:277380

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