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 lipid concentration (HP:0003119)

Parent Node:
Hyperlipidemia (HP:0003077)

..Starting node
..Transient hyperlipidemia (HP:0008279)

Term ID:

8279

Name:

Transient hyperlipidemia

Synonym:

Definition:

Comments:

Reference:

HP:0008279

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypertriglyceridemia (HP:0002155)

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:0008279	HP:0008279	Transient hyperlipidemia	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0008279	HP:0008279	Transient hyperlipidemia	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99

Genes (1) :CPT1A

Diseases (2) :ORPHA:156 OMIM:255120

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