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:
Retinal degeneration (HP:0000546)

Parent Node:
Hyperpigmentation of the fundus (HP:0011512)

Parent Node:
Peripheral retinal degeneration (HP:0007769)

..Starting node
..Reticular pigmentary degeneration (HP:0007937)

Term ID:

7937

Name:

Reticular pigmentary degeneration

Synonym:

Fishnet retinal pigmentation; Honeycomb retinal degeneration

Definition:

A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.

Comments:

Reference:

HP:0007937

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)

Snowflake vitreoretinal degeneration (HP:0011533)

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:0007937	HP:0007937	Reticular pigmentary degeneration	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	86
HP:0007937	HP:0007937	Reticular pigmentary degeneration	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	57
HP:0007937	HP:0007937	Reticular pigmentary degeneration	0	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.	54
HP:0007937	HP:0007937	Reticular pigmentary degeneration	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	54
HP:0007937	HP:0007937	Reticular pigmentary degeneration	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40

Genes (4) :CFH CFI EFEMP1 POU3F4

Diseases (3) :ORPHA:75376 OMIM:126600 ORPHA:1435

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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