Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating lipid concentration (HP:0003119)

..Starting node
..Hyperapobetalipoproteinemia (HP:0008158)

Term ID:

8158

Name:

Hyperapobetalipoproteinemia

Synonym:

Definition:

Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.

Comments:

Reference:

HP:0008158

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating cholesterol concentration (HP:0003107)

Abnormal circulating fatty-acid concentration (HP:0004359)

Abnormal circulating phospholipid concentration (HP:0040176)

Abnormality of liposaccharide metabolism (HP:0010968)

Hyperlipidemia (HP:0003077)

Hypolipidemia (HP:0045014)

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:0008158	HP:0008158	Hyperapobetalipoproteinemia	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76

Genes (1) :ABCG8

Diseases (1) :OMIM:210250

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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