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 hexacosanoic acid concentration (HP:0034298)

Term ID:

34298

Name:

Elevated circulating hexacosanoic acid concentration

Synonym:

Elevated circulating cerotic acid concentration

Definition:

Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.

Comments:

Reference:

HP:0034298

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:0034298	HP:0034298	Elevated circulating hexacosanoic acid concentration	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	94
HP:0034298	HP:0034298	Elevated circulating hexacosanoic acid concentration	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	106

Genes (2) :DNM1L PEX26

Diseases (2) :OMIM:614388 OMIM:614872

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