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)

Parent Node:
Retinal degeneration (HP:0000546)

..Starting node
..Cone dystrophy (HP:0008020)

Term ID:

8020

Name:

Cone dystrophy

Synonym:

Progressive cone degeneration; Progressive cone dystrophy

Definition:

Inherited progressive cone degeneration.

Comments:

Reference:

HP:0008020

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular degeneration (HP:0000608)

obsolete Tapetoretinal degeneration (HP:0000547)

obsolete Vitreoretinal degeneration (HP:0000655)

Peripheral retinal degeneration (HP:0007769)

Retinal atrophy (HP:0001105)

Retinitis pigmentosa inversa (HP:0008035)

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:0008020	HP:0008020	Cone dystrophy	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14

Genes (1) :PDE6H

Diseases (1) :OMIM:610024

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