Gene Symbol:
PRPH2
HGNC:9942
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p21.1
Filters:

Adult-onset foveomacular vitelliform dystrophy classifications

adult-onset foveomacular vitelliform dystrophy
Submitted as: Orphanet:99000
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Central areolar choroidal dystrophy classifications

central areolar choroidal dystrophy
Submitted as: Orphanet:75377
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Choroidal dystrophy, central areolar 2 classifications

choroidal dystrophy, central areolar 2
Submitted as: OMIM:613105
AD
04/17/2018
Evaluated
12/24/2020
Submitted
choroidal dystrophy, central areolar 2
Submitted as: OMIM:613105
AD
05/12/2023
Evaluated
11/30/2023
Submitted

Cone-rod dystrophy classifications

cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Fundus albipunctatus classifications

fundus albipunctatus
Submitted as: OMIM:136880
AD
04/01/2021
Evaluated
11/30/2023
Submitted

Hereditary macular dystrophy classifications

hereditary macular dystrophy
AD
08/30/2017
Evaluated
01/17/2025
Submitted

Inherited retinal dystrophy classifications

inherited retinal dystrophy
SD
04/04/2024
Evaluated
04/21/2024
Submitted

Multifocal pattern dystrophy simulating fundus flavimaculatus classifications

multifocal pattern dystrophy simulating fundus flavimaculatus
Submitted as: Orphanet:99003
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Patterned macular dystrophy classifications

patterned macular dystrophy
Submitted as: Orphanet:99001
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Retinitis pigmentosa classifications

retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Retinitis pigmentosa 7 classifications

retinitis pigmentosa 7
Submitted as: OMIM:608133
SD
04/17/2018
Evaluated
12/24/2020
Submitted
retinitis pigmentosa 7
Submitted as: OMIM:608133
AR
06/14/2023
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 7
Submitted as: OMIM:608133
AD
06/14/2023
Evaluated
11/30/2023
Submitted

Retinitis punctata albescens classifications

retinitis punctata albescens
Submitted as: Orphanet:52427
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Vitelliform macular dystrophy 3 classifications

vitelliform macular dystrophy 3
Submitted as: OMIM:608161
AD
08/20/2021
Evaluated
11/30/2023
Submitted

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