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:
Abnormality of metabolism/homeostasis (HP:0001939)

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

..Starting node
..Abnormality of liposaccharide metabolism (HP:0010968)

Term ID:

10968

Name:

Abnormality of liposaccharide metabolism

Synonym:

Definition:

An abnormality of liposaccharide metabolism.

Comments:

Reference:

HP:0010968

Genes and Diseases:

Child Nodes:

........

Abnormality of glycolipid metabolism (HP:0010969)

................... HP:0004343 Abnormality of glycosphingolipid metabolism

Sister Nodes:

Abnormal circulating cholesterol concentration (HP:0003107)

Abnormal circulating fatty-acid concentration (HP:0004359)

Abnormal circulating phospholipid concentration (HP:0040176)

Hyperapobetalipoproteinemia (HP:0008158)

Hyperlipidemia (HP:0003077)

Hypolipidemia (HP:0045014)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010968	HP:0010968	Abnormality of liposaccharide metabolism	0	CL E G H

Genes (0) :

Diseases (0) :

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