1. Gene
  2. RPGR - retinitis pigmentosa GTPase regulator Gene

RPGR - retinitis pigmentosa GTPase regulator Gene

Homo sapiens

Also known as CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1

Gene ID: 6103 | Gene type: protein coding

About RPGR

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:38,269,163-38,327,509 (from NCBI)

This gene has 19 transcripts (splice variants), 259 orthologues, 9 paralogues and is associated with 11 phenotypes. Ubiquitous expression in testis (RPKM 2.6), lung (RPKM 2.3) and 25 other tissues.

Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]

RPGR Products(9)

mRNA Protein Name
NM_000328.3 NP_000319.1 X-linked retinitis pigmentosa GTPase regulator isoform A
NM_001034853.2 NP_001030025.1 X-linked retinitis pigmentosa GTPase regulator isoform C
NM_001367245.1 NP_001354174.1 X-linked retinitis pigmentosa GTPase regulator isoform D
NM_001367246.1 NP_001354175.1 X-linked retinitis pigmentosa GTPase regulator isoform E
NM_001367247.1 NP_001354176.1 X-linked retinitis pigmentosa GTPase regulator isoform F
NM_001367248.1 NP_001354177.1 X-linked retinitis pigmentosa GTPase regulator isoform G
NM_001367249.1 NP_001354178.1 X-linked retinitis pigmentosa GTPase regulator isoform H
NM_001367250.1 NP_001354179.1 X-linked retinitis pigmentosa GTPase regulator isoform I
NM_001367251.1 NP_001354180.1 X-linked retinitis pigmentosa GTPase regulator isoform J

RPGR Protein Structure

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (55 - 101)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (106 - 155)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (158 - 205)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (208 - 258)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (262 - 310)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (314 - 363)

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  • 1020 a.a.
Protein Preferred Names Protein Names

X-linked retinitis pigmentosa GTPase regulator

retinitis pigmentosa 15

Related Diseases

Diseases Alias
Retinitis Pigmentosa 3

RP3

Retinitis Pigmentosa 15

Rp15

Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women

Cone-Rod Degeneration, X-Linked

Retinitis Pigmentosa Type 15

X-Linked Cone-Rod Degeneration

X-Linked Retinitis Pigmentosa 3

Xlrp3

Xlrp-3

Retinitis Pigmentosa-3

Retinitis Pigmentosa, Type 3

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness

Retinitis Pigmentosa And Sinorespiratory Infections With Or Without Deafness

RPDSI

X-Linked Retinitis Pigmentosa With Deafness And Sinorespiratory Infections

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Deafness

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With/Without Deafness

Cone-Rod Dystrophy, X-Linked, 1

CORDX1

X-Linked Cone-Rod Dystrophy 1

Cod1

Cone Dystrophy X-Linked 1

X-Linked Cone Dystrophy 1

Cone-Rod Dystrophy X-Linked 1

Cone-Rod Dystrophy, X-Linked 1

Dystrophy, Cone-Rod, X-Linked, Type 1

Cone Dystrophy, X-Linked, 1

Macular Degeneration, X-Linked Atrophic

X-Linked Atrophic Macular Degeneration

Macular Degeneration, X-Linked, Atrophic

MDXLA

Degeneration, Macular, X-Linked Atrophic

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

X-Linked Retinitis Pigmentosa And Sinorespiratory Infections

Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis
Retinitis Pigmentosa 6

RP6

Retinitis Pigmentosa, X-Linked Recessive, 6

Retinitis Pigmentosa-6, X-Linked Recessive

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis

X-Linked Retinoschisis

X-Linked Juvenile Retinoschisis

RS1

XLRS1

X-Linked Juvenile Retinoschisis 1

Xlrs

Retinoschisis, X-Linked

Rs

Congenital X-Linked Retinoschisis

Degenerative Retinoschisis

Juvenile Retinoschisis

Xjr

Retinoschisis Juvenile X-Linked 1

Retinoschisis, Juvenile, X-Linked

Retinoschisis, Degenerative

Retinitis Pigmentosa 2

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Retinal Degeneration

Degeneration Of Retina

Retinitis Pigmentosa 19

RP19

Retinitis Pigmentosa-19

Retinitis Pigmentosa, Type 19

Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene

Retinitis Pigmentosa 24

RP24

Retinitis Pigmentosa-24

Retinitis Pigmentosa 27

RP27

Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type

Retinal Degeneration Autosomal Recessive Clumped Pigment Type

RDCP

Clumped Pigmentary Retinal Degeneration

Retinitis Pigmentosa, Type 27

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Retinitis Pigmentosa 40

RP40

Retinitis Pigmentosa-40

Retinitis Pigmentosa, Type 40

Retinitis Pigmentosa 67

RP67

Retinitis Pigmentosa, Type 67

Night Blindness

Nyctalopia

Cone-Rod Dystrophy 13

CORD13

Dystrophy, Cone-Rod, Type 13

Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Retinitis Pigmentosa 35

RP35

Retinitis Pigmentosa-35

Retinitis Pigmentosa, Type 35

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Eye Degenerative Disease
Scotoma

Enlarged Blind Spot

Scotoma Of Blind Spot Area

Blind Spot Area Scotoma

Enlarged Angioscotoma

Enlarged Paracaecal Scotoma

Generalized Visual Field Contraction Or Constriction

Sector Or Arcuate Visual Field Defects

Cone-Rod Dystrophy 1

CORD1

Crd1

Cone-Rod Retinal Dystrophy-1

Retinitis Pigmentosa 1

Bietti Crystalline Corneoretinal Dystrophy

BCD

Bietti Crystalline Dystrophy

Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy

Bietti Crystalline Retinopathy

Bietti'S Crystalline Dystrophy

Crystalline Retinopathy

Dystrophy, Corneoretinal, Crystalline, Bietti

Retinitis Pigmentosa 85

RP85

Retinitis Pigmentosa, Type 85

Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74

Retinitis Pigmentosa 39

RP39

Retinitis Pigmentosa, Type 39

Joubert Syndrome 7

JBTS7

Cerebello-Oculo-Renal Syndrome 3

Cors3

Joubert Syndrome, Type 7

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Retinitis Pigmentosa 75

RP75

Retinitis Pigmentosa, Type 75

Retinitis Pigmentosa 25

RP25

Retinitis Pigmentosa-25

Retinitis Pigmentosa, Type 25

Progressive Cone Dystrophy

Cone Dystrophy

Cone Dystrophy Progressive

Cone-Rod Dystrophy, X-Linked, 3

CORDX3

X-Linked Cone-Rod Dystrophy 3

Cone-Rod Dystrophy X-Linked 3

Cone-Rod Dystrophy, X-Linked 3

Dystrophy, Cone-Rod, X-Linked, Type 3

Retinitis Pigmentosa 12

RP12

Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp With Or Without Pprpe

Retinitis Pigmentosa-12

Retinitis Pigmentosa 17

RP17

Retinitis Pigmentosa-17

Retinitis Pigmentosa, Type 17

Nephronophthisis 12

NPHP12

Joubert Syndrome 11

JBTS11

Nephronophthisis, Type 12

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Enhanced S-Cone Syndrome

Goldmann-Favre Syndrome

ESCS

Favre Hyaloideoretinal Degeneration

Retinoschisis With Early Hemeralopia

Retinoschisis With Early Nyctalopia

Enhanced S Cone Syndrome

S-Cone Syndrome, Enhanced

Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Macular Dystrophy, Dominant Cystoid

Cystoid Macular Edema

DCMD

Cystoid Macular Dystrophy

Macular Edema, Cystoid

Autosomal Dominant Cystoid Macular Edema

Cymd

Mddc

Familial Macular Edema

Macular Edema

Macular Retinal Edema

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Senior-Loken Syndrome 1

Senior-Loken Syndrome

Renal Dysplasia And Retinal Aplasia

Renal-Retinal Syndrome

Loken-Senior Syndrome

Juvenile Nephronophthisis With Leber Amaurosis

SLSN1

Senior-Loken Syndrome-1

Loken Senior Syndrome

Senior Loken Syndrome

Renal Dysplasia Retinal Aplasia

Nephronophthisis With Retinal Dystrophy

Renal Dysplasia-Retinal Aplasia Syndrome

Slsn

Occult Macular Dystrophy

OCMD

Omd

Dystrophy, Macular, Occult

Color Blindness

Color Vision Defect

Blindness Color

Colour Blindness

Colour Vision Deficiency

Color Vision Deficiency

Color Vision Defects

Defective Color Vision

Vision Defect, Color

Color-Vision Disease

Dyschromatopsia

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Blue Cone Monochromacy

Blue Cone Monochromatism

BCM

Cbbm

Color Blindness Blue Mono Cone Monochromatic Type

Cone Dystrophy 5, X-Linked

Colorblindness, Blue-Mono-Cone-Monochromatic Type

Achromatopsia Incomplete X-Linked

Incomplete Achromatopsia X-Linked

X-Chromosome-Linked Achromatopsia

X-Linked Achromatopsia Incomplete

Atypical X-Linked Achromatopsia

Color Blindness, Blue Monocone Monochromatic Type

S Cone Monochromacy

S Cone Monochromatism

X-Linked Incomplete Achromatopsia

Colorblindness Blue-Mono-Cone-Monochromatic Type

Cone Dystrophy 5

COD5

Cone Dystrophy 5 X-Linked

Monochromacy, Blue Cone

Cone Monochromatism

Achromatopsia Incomplete, X-Linked

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4

CILD4

Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8

CILD8

Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

Retinitis Pigmentosa 84

RP84

Retinitis Pigmentosa, Type 84

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Retinitis Pigmentosa 30

RP30

Retinitis Pigmentosa-30

Retinitis Pigmentosa, Type 30

Cone-Rod Dystrophy 3

CORD3

Dystrophy, Cone Rod, Type 3

Optic Disk Drusen

Optic Disc Drusen

Drusen Of Optic Disc

Optic Nerve Head Drusen

Drusen Optic Disc

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy

Leber Congenital Amaurosis 2

LCA2

Amaurosis Congenita Of Leber Ii

Amaurosis Congenita Of Leber, Type 2

Leber Congenital Amaurosis Type Ii

Leber Congenital Amaurosis, Type 2

Leber Congenital Amaurosis, Type Ii

Retinitis Pigmentosa 26

RP26

Retinitis Pigmentosa-26

Retinitis Pigmentosa, Type 26

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina

Degeneration Of Retina Nos

Reticular Retinal Degeneration

Retinal Degeneration

Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta

IMD25

Immunodeficiency, Type 25

Red-Green Color Blindness

Deutan Defect

Deuteranopia

Reduced Red-Green Discrimination

Color Blindness, Red-Green

Colorblindness, Partial, Deutan Series

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Refractive Error

Refractive Errors

Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa

Nephronophthisis 19

NPHP19

Nephronophthisis, Type 19

Bestrophinopathy, Autosomal Recessive

Bestrophinopathy

Autosomal Recessive Bestrophinopathy

ARB

Bestrophinopathies

Retinopathy, Burgess-Black Type

Retinopathy Burgess-Black Type

Retinitis Pigmentosa 31

RP31

Retinitis Pigmentosa-31

Retinitis Pigmentosa, Type 31

Ciliary Dyskinesia, Primary, 43

CILD43

Primary Ciliary Dyskinesia 43

Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus

Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Vitreous Syneresis

Vitreous Degeneration

Retinal Disease

Retinal Diseases

Retinal Disorder

Retinal Disorders

Ciliary Dyskinesia, Primary, 1

CILD1

Pcd

Primary Ciliary Dyskinesia 1

Kartagener Syndrome

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

Immotile Cilia Syndrome

Ics

Polynesian Bronchiectasis

Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus

Ics1

Immotile Cilia Syndrome 1

Primary Ciliary Dyskinesia

KTGS

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome Kartagener Type

Primary Ciliary Dyskinesia Kartagener Type

Siewert Syndrome

Immotile Cilia

Dyskinesia, Ciliary, Primary, Type 1

Ciliary Motility Disorders

Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis

Choroidal Dystrophy

Choroidal Dystrophy, Central Areolar

Cacd

Central Areolar Choroidal Dystrophy

CACD1

Choroidal Dystrophy, Central Areolar 1

Choroidal Dystrophy Central Areolar

Central Areolar Choroidal Sclerosis

Choroidal Degenerations

Areolar Atrophy Of The Macula

Partial Central Choroid Dystrophy

Degenerative Choroidopathy

Chorioretinal Degeneration

Hereditary Chorioretinal Degeneration

Hereditary Degeneration Of Choroid

Hereditary Choroidal Dystrophies

Generalised Choroidal Dystrophy

Hereditary Choroidopathy

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Sensory System Disease
Kartagener Syndrome

Kartagener'S Syndrome

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Cranioectodermal Dysplasia

Sensenbrenner Syndrome

Levin Syndrome 1

Ced

Levin Syndrome

Dysplasia, Cranioectodermal

Nanophthalmos

Nanophthalmia

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RPGR MGD MGI:1344037
Rattus norvegicus RPGR RGD RGD:1560136