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 macular morphology (HP:0001103)

Grandparent Node:
Retinal degeneration (HP:0000546)

Parent Node:
Macular degeneration (HP:0000608)

..Starting node
..Cystoid macular degeneration (HP:0008028)

Term ID:

8028

Name:

Cystoid macular degeneration

Synonym:

Cystic macular degeneration

Definition:

A form of macular degeneration characterized by the presence of multiple cysts in the macula.

Comments:

Reference:

HP:0008028

Genes and Diseases:

Child Nodes:

Sister Nodes:

Foveal degeneration (HP:0025146)

Macular atrophy (HP:0007401)

obsolete Age-related macular degeneration (HP:0007868)

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:0008028	HP:0008028	Cystoid macular degeneration	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040281 - Very frequent	182
HP:0008028	HP:0008028	Cystoid macular degeneration	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.	182
HP:0008028	HP:0008028	Cystoid macular degeneration	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58

Genes (2) :BEST1 NR2E3

Diseases (3) :ORPHA:1243 OMIM:153700 OMIM:611131

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