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:
Hyperlipidemia (HP:0003077)

Parent Node:
Hypertriglyceridemia (HP:0002155)

..Starting node
..Lactescent serum (HP:0031028)

Term ID:

31028

Name:

Lactescent serum

Synonym:

Milk-like serum; Plasma lactescence

Definition:

Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.

Comments:

Reference:

HP:0031028

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:0031028	HP:0031028	Lactescent serum	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106

Genes (1) :LPL

Diseases (1) :OMIM:238600

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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