Human Phenotype Ontology

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:
Abnormal LDL cholesterol concentration (HP:0031886)

Grandparent Node:
Hypolipoproteinemia (HP:0010981)

Parent Node:
Decreased LDL cholesterol concentration (HP:0003563)

..Starting node
..Abetalipoproteinemia (HP:0008181)

Term ID:

8181

Name:

Abetalipoproteinemia

Synonym:

Definition:

An absence of low-density lipoprotein cholesterol in the blood.

Comments:

Reference:

HP:0008181

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008181	HP:0008181	Abetalipoproteinemia	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81

Genes (1) :MTTP

Diseases (1) :OMIM:200100

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