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
..Decreased circulating apolipoprotein concentration (HP:0033459)

Term ID:

33459

Name:

Decreased circulating apolipoprotein concentration

Synonym:

Decreased apolipoprotein level

Definition:

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

Comments:

Reference:

HP:0033459

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:0033459	HP:0033459	Decreased circulating apolipoprotein concentration	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0033459	HP:0033459	Decreased circulating apolipoprotein concentration	0	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE	40
HP:0033459	HP:0033459	Decreased circulating apolipoprotein concentration	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY	27
HP:0033459	HP:0033459	Decreased circulating apolipoprotein concentration	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	56
HP:0033459	HP:0031799	Decreased circulating apolipoprotein AI concentration	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	191
HP:0033459	HP:0031799	Decreased circulating apolipoprotein AI concentration	1	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE	40
HP:0033459	HP:0033983	Decreased circulating apolipoprotein C-II concentration	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY	27
HP:0033459	HP:0034075	Decreased circulating apolipoprotein B concentration	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	56

Genes (4) :ABCA1 APOA1 APOC2 CCT5

Diseases (4) :OMIM:205400 OMIM:619836 OMIM:207750 OMIM:256840

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