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 tetradecanoylcarnitine concentration (HP:0033465)

Term ID:

33465

Name:

Elevated circulating tetradecanoylcarnitine concentration

Synonym:

Elevated circulating C14 carnitine concentration; Elevated circulating myristoylcarnitine concentration

Definition:

Elevated circulating tetradecanoyl concentration.

Comments:

Reference:

HP:0033465

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033465	HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22

Genes (1) :COX16

Diseases (1) :OMIM:619355

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