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 dystrophy (HP:0000556)

Parent Node:
Pattern dystrophy of the retina (HP:0007963)

..Starting node
..Reticular retinal dystrophy (HP:0007913)

Term ID:

7913

Name:

Reticular retinal dystrophy

Synonym:

Definition:

A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.

Comments:

Reference:

HP:0007913

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007913	HP:0007913	Reticular retinal dystrophy	0	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	.	159

Genes (1) :PRPH2

Diseases (1) :OMIM:169150

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