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 cholesterol concentration (HP:0003107)

Parent Node:
Abnormality of lipoprotein cholesterol concentration (HP:0010979)

..Starting node
..Abnormal chylomicron concentration (HP:0031887)

Term ID:

31887

Name:

Abnormal chylomicron concentration

Synonym:

Definition:

Any deviation from the normal circulating concentration of chylomicrons.

Comments:

Reference:

HP:0031887

Genes and Diseases:

Child Nodes:

........

Increased circulating chylomicron concentration (HP:0012238)

........

Decreased circulating chylomicron concentration (HP:0031242)

Sister Nodes:

Abnormal HDL cholesterol concentration (HP:0031888)

Abnormal LDL cholesterol concentration (HP:0031886)

Abnormal VLDL cholesterol concentration (HP:0031889)

Hyperlipoproteinemia (HP:0010980)

Hypolipoproteinemia (HP:0010981)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031887	HP:0031887	Abnormal chylomicron concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0031887	HP:0031887	Abnormal chylomicron concentration	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0031887	HP:0031887	Abnormal chylomicron concentration	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0031887	HP:0031887	Abnormal chylomicron concentration	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0031887	HP:0031242	Decreased circulating chylomicron concentration	1	CL E G H
HP:0031887	HP:0012238	Increased circulating chylomicron concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0031887	HP:0012238	Increased circulating chylomicron concentration	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0031887	HP:0012238	Increased circulating chylomicron concentration	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0031887	HP:0012238	Increased circulating chylomicron concentration	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106

Genes (4) :APOA5 APOC2 GPIHBP1 LPL

Diseases (4) :OMIM:144650 OMIM:207750 OMIM:615947 OMIM:238600

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