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:
Retinal degeneration (HP:0000546)

Parent Node:
obsolete Vitreoretinal degeneration (HP:0000655)

Parent Node:
Peripheral retinal degeneration (HP:0007769)

..Starting node
..Snowflake vitreoretinal degeneration (HP:0011533)

Term ID:

11533

Name:

Snowflake vitreoretinal degeneration

Synonym:

Snowflake retinal degeneration

Definition:

The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.

Comments:

Reference:

HP:0011533

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lattice retinal degeneration (HP:0007992)

obsolete Peripheral retinal cone degeneration (HP:0007782)

Peripheral cystoid retinal degeneration (HP:0007667)

Reticular pigmentary degeneration (HP:0007937)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011533	HP:0011533	Snowflake vitreoretinal degeneration	0	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration	42

Genes (1) :KCNJ13

Diseases (1) :OMIM:193230

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