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 protein concentration (HP:0010876)

Parent Node:
Abnormal circulating apolipoprotein concentration (HP:0025201)

..Starting node
..Elevated circulating apolipoprotein A-II concentration (HP:0031800)

Term ID:

31800

Name:

Elevated circulating apolipoprotein A-II concentration

Synonym:

Elevated Apo-AII level; Elevated apoA-II level; Elevated APOAII level; Elevated apolipoprotein A-II level

Definition:

An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.

Comments:

Reference:

HP:0031800

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating apolipoprotein AI concentration (HP:0031799)

Elevated circulating apolipoprotein A-IV concentration (HP:0025202)

Elevated circulating apolipoprotein B concentration (HP:0031798)

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:0031800	HP:0031800	Elevated circulating apolipoprotein A-II concentration	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0031800	HP:0031800	Elevated circulating apolipoprotein A-II concentration	0	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.