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
..Decreased circulating apolipoprotein AI concentration (HP:0031799)

Term ID:

31799

Name:

Decreased circulating apolipoprotein AI concentration

Synonym:

Decreased apo-AI level; Decreased apoA-I level; Decreased apolipoprotein AI level

Definition:

Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.

Comments:

Reference:

HP:0031799

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0031799	HP:0031799	Decreased circulating apolipoprotein AI concentration	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0031799	HP:0031799	Decreased circulating apolipoprotein AI concentration	0	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE	40

Genes (2) :ABCA1 APOA1

Diseases (2) :OMIM:205400 OMIM:619836

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

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