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
..Increased circulating apolipoprotein circulation (HP:0033460)

Term ID:

33460

Name:

Increased circulating apolipoprotein circulation

Synonym:

Definition:

Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).

Comments:

Reference:

HP:0033460

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:0033460	HP:0033460	Increased circulating apolipoprotein circulation	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0033460	HP:0033460	Increased circulating apolipoprotein circulation	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	106
HP:0033460	HP:0033112	Elevated circulating apolipoprotein C-III concentration	1	CL E G H
HP:0033460	HP:0025202	Elevated circulating apolipoprotein A-IV concentration	1	CL E G H
HP:0033460	HP:0031800	Elevated circulating apolipoprotein A-II concentration	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0033460	HP:0031798	Elevated circulating apolipoprotein B concentration	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	106
HP:0033460	HP:0031800	Elevated circulating apolipoprotein A-II concentration	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	106

Genes (2) :ABCA1 LPL

Diseases (2) :OMIM:205400 OMIM:144250

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