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 retinal morphology (HP:0000479)

Grandparent Node:
Abnormality of the vasculature of the eye (HP:0008047)

Parent Node:
Abnormal retinal vascular morphology (HP:0008046)

..Starting node
..Lipemia retinalis (HP:0000660)

Term ID:

660

Name:

Lipemia retinalis

Synonym:

Definition:

A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.

Comments:

Reference:

HP:0000660

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal distribution of retinal arterioles and venules (HP:0007815)

Abnormal retinal artery morphology (HP:0000630)

Attenuation of retinal blood vessels (HP:0007843)

Hypertensive retinopathy (HP:0001095)

Increased retinal vascularity (HP:0007986)

Peripheral retinal avascularization (HP:0007685)

Retinal neovascularization (HP:0030666)

Retinal telangiectasia (HP:0007763)

Retinal vascular malformation (HP:0007797)

Retinal vascular proliferation (HP:0007850)

Retinal vascular tortuosity (HP:0012841)

Retinal vasculitis (HP:0025188)

Retinal vein occlusion (HP:0012636)

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:0000660	HP:0000660	Lipemia retinalis	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0000660	HP:0000660	Lipemia retinalis	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000660	HP:0000660	Lipemia retinalis	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	HP:0040283 - Occasional	12
HP:0000660	HP:0000660	Lipemia retinalis	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0000660	HP:0000660	Lipemia retinalis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110

Genes (5) :APOC2 G6PC1 GPIHBP1 LPL SLC37A4

Diseases (5) :OMIM:207750 OMIM:232200 OMIM:615947 OMIM:238600 OMIM:232220

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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