Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
MER proto-oncogene tyrosine kinase
Synonyms:
Nyk,  Mer,  Eyk,  Tyro 12,  nmf12

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mertk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mertk by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Mertk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Re... ORPHA:75377
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Retinitis Pigmentosa 42
Rod-cone dystrophy, Peripapillary atrophy, Cystoid macular edema, Perifoveal ring of hyperautoflu... OMIM:612943
Persistent Placoid Maculopathy
Amblyopia, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascula... ORPHA:97341
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Blindness, External genital hypoplasia OMIM:268010
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy OMIM:613144
Choroideremia
Progressive visual loss, Choroideremia, Granular macular appearance, Retinal pigment epithelial m... OMIM:303100
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the reti... OMIM:180210
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Blindness, Retinal thinning, Severe... ORPHA:41751
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Retinitis Pigmentosa 11
Rod-cone dystrophy, Blindness, Macular edema, Reduced visual acuity, Macular degeneration, Macula... OMIM:600138
Optic Atrophy 9
Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral scotoma, Visual impa... OMIM:616289
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Vitelliform-like macular lesions, Reduced visu... OMIM:616152
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 29
Rod-cone dystrophy, Blindness, Attenuation of retinal blood vessels OMIM:612165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy, Bone spicule pigmentation of the retina, Att... OMIM:617781
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Immunodeficiency 18
Recurrent otitis media, Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-... OMIM:615615
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Visual field defect... OMIM:616544
Retinitis Pigmentosa 62
Rod-cone dystrophy, Reduced visual acuity, Visual field defect, Bone spicule pigmentation of the ... OMIM:614181
Retinitis Pigmentosa 4
Rod-cone dystrophy, Blindness, Retinal atrophy, Visual field defect, Bone spicule pigmentation of... OMIM:613731
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration, Central scoto... OMIM:600977
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Visual impairment, Pigmentary retinopathy, Nyctalopia OMIM:613758
Retinitis Pigmentosa 68
Rod-cone dystrophy, Retinal atrophy, Visual field defect, Bone spicule pigmentation of the retina... OMIM:615725
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... OMIM:204500
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Macular Dystrophy, Patterned, 1
Reduced visual acuity, Choroidal neovascularization, Pattern dystrophy of the retina, Reticular r... OMIM:169150
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Retinitis Pigmentosa 27
Rod-cone dystrophy, Blindness, Macular edema, Macular atrophy, Peripapillary chorioretinal atroph... OMIM:613750
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Abnormal platelet count, Impaired ristocetin-induced platelet aggregatio... OMIM:614201
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Reduced visual acuity, Bone spicule pigmentation of the retin... OMIM:617871
Choroideremia
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Myopia, Nyctalop... ORPHA:180
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Nyctalopia ORPHA:1872
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Color vision defect, Photophobia, Ny... OMIM:600852
Senior-Loken Syndrome 6
Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:610189
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613428
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Macular Dystrophy, Vitelliform, 1
Visual field defect, Vitelliform-like macular lesions, Visual impairment, Reduced visual acuity, ... OMIM:153840
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614180
Retinitis Pigmentosa 78
Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic disc pallor, ... OMIM:617433
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Rod-cone dystrophy, Blindness, Cone/cone-rod dystrophy, Nyctalopia OMIM:610282
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Blindness, Optic atrophy, Visual loss, Cerebral atrophy, Cerebellar atrophy, Neurode... OMIM:610951
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Retinitis Pigmentosa 7
Rod-cone dystrophy, Attenuation of retinal blood vessels, Constriction of peripheral visual field... OMIM:608133
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Visual impairment, Nyctalopia OMIM:607476
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... OMIM:601718
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Central scotoma, Retinal t... OMIM:619382
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness, Macular dystrophy OMIM:601553
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Scotoma, Bone spicule pigmentation of the retina, Attenuat... OMIM:180100
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Vitelliform-like macular lesions, Drusen, Macular dystrophy OMIM:616151
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, External genital hypoplasia, Vaginal atresia, Hypospadias, Pigmentary retinop... OMIM:605231
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 63
Blurred vision, Rod-cone dystrophy, Nyctalopia, Optic disc pallor OMIM:614494
Cone-Rod Dystrophy 16
Progressive visual loss, Rod-cone dystrophy, Cone/cone-rod dystrophy, Reduced visual acuity, Macu... OMIM:614500
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Constriction of peripheral visual field, Red... OMIM:615780
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Constriction of peripheral visual fi... OMIM:606068
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Photophobia, Color vision defect, Vitelliform-like... OMIM:608161
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 79
Reduced visual acuity, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617460
Retinitis Pigmentosa 92
Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Pigmentary retin... OMIM:619614
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Central scotoma, Color vision defect, Reduced visual acuity, Bull's eye ... OMIM:612657
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment, Blindness, Abnormal macular morphology, Retin... ORPHA:90050
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Choroidal neovascularization, Reduced OCT-measured foveal thickness, Nycta... OMIM:619977
Retinitis Pigmentosa 20
Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely reduced vis... OMIM:613794
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Leber Congenital Amaurosis 4
Blindness, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Attenuation of retina... OMIM:604393
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Progressive visual field defects, N... OMIM:601414
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pho... OMIM:300029
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Reduced visual acuity, Retinal dystrophy, Central scotoma, Photophobia, Nyctal... OMIM:616079
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:620102
Retinitis Pigmentosa 38
Progressive visual loss, Rod-cone dystrophy, Macular atrophy, Constriction of peripheral visual f... OMIM:613862
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... OMIM:187800
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Progressive visual loss, Rod-cone dystrophy, Attenuation of r... OMIM:613660
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Photophobia, Reduced visual acuity, Nyctalopia OMIM:616502
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy, Reduced visual acuity OMIM:165510
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Blindness, Cone/cone-rod dystrophy, Bone spicule pigmentation... OMIM:120970
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Achromatopsia
Retinal pigment epithelial atrophy, Monochromacy, Abnormal macular morphology, Retinal pigment ep... ORPHA:49382
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Retinitis Pigmentosa 2
Rod-cone dystrophy, Myopia, High myopia, Central scotoma, Pericentral scotoma, Constriction of pe... OMIM:312600
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Photophobia, Constriction of periph... OMIM:610478
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Fleck Retina Of Kandori
Retinal flecks, Blindness, Nyctalopia OMIM:228990
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Leber Congenital Amaurosis 2
Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Photophobia, Fundus atrop... OMIM:204100
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cons... OMIM:180104
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia OMIM:611543
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Congenital Stationary Night Blindness
Retinal thinning, Congenital stationary night blindness with normal fundus, Abnormality of retina... ORPHA:215
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 50
Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal flecks, ... OMIM:613194
Cone-Rod Dystrophy 20
Tritanomaly, Cone/cone-rod dystrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615973
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Severely reduced visual acuity, Blindness, Optic atrophy OMIM:309555
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Cone Dystrophy 3
Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Photoph... OMIM:602093
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, High hypermetropia, Optic disc drusen, Foveoschisis, Reduced ... OMIM:611040
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephriti... OMIM:247800
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Leber Congenital Amaurosis 9
Optic atrophy, Reduced visual acuity, Ultra-low vision, Retinal dots, Retinal pigment epithelial ... OMIM:608553
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Central heterochromia OMIM:275400
Usher Syndrome, Type Iiia
Visual field defect, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity OMIM:276902
Fleck Retina, Familial Benign
Retinal flecks, Nyctalopia, Visual impairment OMIM:228980
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Optic Atrophy 12
Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal Ishihara plate test,... OMIM:618977
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Macular Dystrophy With Central Cone Involvement
Red-green dyschromatopsia, Reduced visual acuity, High myopia, Central scotoma, Perifoveal ring o... OMIM:616170
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Retinitis Pigmentosa
Rod-cone dystrophy, Constriction of peripheral visual field, Abnormality of fundus pigmentation, ... OMIM:268000
Leber Congenital Amaurosis 1
Optic disc drusen, Blindness, Reduced visual acuity, Attenuation of retinal blood vessels, Hepato... OMIM:204000
Achromatopsia 7
Macular atrophy, Central scotoma, Achromatopsia, Photophobia, Hypoplasia of the fovea, Reduced vi... OMIM:616517
Fundus Albipunctatus
Retinal flecks, Fundus albipunctatus, Nyctalopia OMIM:136880
Retinal Capillary Malformation
Progressive visual loss, Vitreous hemorrhage, Amblyopia, Blindness, Retinal exudate, Central fund... ORPHA:71213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Retinitis Pigmentosa 6
Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal degeneration, Pigmenta... OMIM:312612
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu... OMIM:204200
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar atrophy, Optic disc pa... OMIM:619389
Tritanopia
Tritanomaly, Abnormal retinal morphology, Reduced visual acuity, Photophobia, Color vision test a... ORPHA:88629
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen OMIM:608895
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:613310
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Nephronophthisis 15
Retinal degeneration OMIM:614845
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... OMIM:256730
Leber Congenital Amaurosis 16
Reduced visual acuity, Visual field defect, Photophobia, Visual impairment, Optic disc pallor, Ny... OMIM:614186
Cone Dystrophy 4
Cone/cone-rod dystrophy, Photophobia, Dyschromatopsia, Visual impairment, Reduced visual acuity, ... OMIM:613093
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Inflammatory abnormality of the sk... ORPHA:277
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Scotoma, Macular atrophy, Photophobia, Myopia, Reduced visual acuity, Ny... OMIM:610356
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... OMIM:617006
Usher Syndrome, Type Iid
Rod-cone dystrophy, Nyctalopia OMIM:611383
Retinitis Pigmentosa 49
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613756
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Scotoma, Optic atrophy, Reduced visual acuity OMIM:165300
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity, Bone spicule pigmentation of the re... OMIM:600105
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment OMIM:616335
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Drusen, Nyctalopia OMIM:618632
Nephronophthisis 14
Retinal degeneration OMIM:614844
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... OMIM:312863
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle l... OMIM:618806
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Central scotoma, ... OMIM:615233
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:155100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Blue Cone Monochromacy
Blue cone monochromacy, Photophobia, Visual impairment, Myopia, Reduced visual acuity, Abnormalit... OMIM:303700
Leber Congenital Amaurosis 14
Congenital blindness, Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy, Photophobia, Redu... OMIM:613341
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Bornholm Eye Disease
Deuteranopia, Amblyopia, Protanopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia,... OMIM:300843
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Central scotoma, Visual loss, Colo... OMIM:604116
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... OMIM:256731
Congenital Glaucoma
Retinal detachment ORPHA:98976
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly, Abnormality of vision ORPHA:294
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Macular dystrophy, Reduced visual ... OMIM:615983
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:602271
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigme... OMIM:613983
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Blindness, Cone/cone-rod dystrophy, Macular degeneration, Abnorm... OMIM:605549
Retinitis Pigmentosa 10
Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the retina, Attenuation o... OMIM:180105
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, High myopia, Reduced visual acuity, Congenital stationary night blindness, N... OMIM:615058
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Foveal atrophy, Foveal hyperpigmentation, Central scotoma, Reduced visua... OMIM:615374
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... ORPHA:444463
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Retinal dystrophy, Visual impairment, Peripheral retinal atrophy, Reduced visual acu... OMIM:615147
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Central scotoma, Photophobia, Color visio... OMIM:300476
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Canavan Disease
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... OMIM:618204
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... OMIM:615513
Jalili Syndrome
High hypermetropia, Monochromacy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, M... OMIM:217080
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Mildly reduced visual acuity, Visual impairment OMIM:164100
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinal Cone Dystrophy 3A
Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Photophobia, High myopia, Nyctalopia OMIM:610024
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Reduced visual acuity, Micropenis, Nyctalopia OMIM:610156
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Reduced visual acuity, Bone spicule pigmentation of th... OMIM:616469
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... OMIM:616468
Acute Zonal Occult Outer Retinopathy
Blurred vision, Photopsia, Abnormal retinal vascular morphology, Rod-cone dystrophy, Hemianopia, ... ORPHA:284454
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Vaginal Atresia
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, C... ORPHA:65681
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Blindness, Poste... OMIM:601813
Cone-Rod Dystrophy 6
Hemeralopia, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, A... OMIM:601777
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Blindness, Foveoschisis, Chorioretinal atrophy, Visual impairment, Myopia, Ny... OMIM:258870
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... OMIM:613835
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa
Blindness, Abnormal testis morphology, Optic atrophy, Hypogonadism, Hypoplasia of penis, Progress... ORPHA:791
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Retinitis Pigmentosa 59
Rod-cone dystrophy, Cystoid macular edema, Constriction of peripheral visual field, Hepatomegaly,... OMIM:613861
Sandhoff Disease
Blindness, Splenomegaly, Cherry red spot of the macula, Hepatomegaly ORPHA:796
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Decrease... OMIM:209900
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor OMIM:612572
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis medi... OMIM:608971
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Reduced visual acuity, Blind-spot enlargment, Severely reduced visual acuity, Opti... OMIM:614296
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod... OMIM:614420
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, External genital hypoplasia, Visual impairment, Pigmentary retinopathy, Nycta... OMIM:600151
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Hypogonadism, Hydrometrocolpos, Vaginal atresia, Abdominal mass OMIM:615989
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of t... OMIM:610283
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Blindness, Optic nerve hypoplasia OMIM:617914
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:601859
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Visual field defect, Iris hypopigmentation, Retinal nonattachment, Vitelliform-lik... ORPHA:99000
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Retinitis Punctata Albescens
Progressive visual loss, Peripheral visual field loss, Retinal atrophy, Retinal pigment epithelia... ORPHA:52427
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Reduced visual acuity, Visual field defec... OMIM:613581
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Rod-cone dystrophy, Abnormal fundus morphology, Attenuation of retinal blood vessels, Absent reti... ORPHA:436274
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Senior-Loken Syndrome
Progressive visual loss, Premature ovarian insufficiency, Retinal dystrophy, Abnormality of retin... ORPHA:3156
Retinitis Pigmentosa 37
Tritanomaly, Rod-cone dystrophy, Red-green dyschromatopsia, Photophobia, Constriction of peripher... OMIM:611131
Oguchi Disease
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon ORPHA:75382
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... OMIM:601399
Retinitis Pigmentosa 93
Retinal dots, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity OMIM:619845
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Reduced visual acuity, Central scotoma, Color vision defect, Blind-spot enlarg... OMIM:616732
Retinitis Pigmentosa 89
Hepatic fibrosis, Rod-cone dystrophy, Retinal thinning, Intrahepatic bile duct dilatation, Hepato... OMIM:618955
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair, Photophobia, Hypoplasia of the fovea, Visual impairment,... OMIM:113750
Narp Syndrome
Rod-cone dystrophy, Cerebral cortical atrophy, Blindness, Retinal pigment epithelial mottling, Re... ORPHA:644
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Optic disc drusen OMIM:615972
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Chromosome Xq21 Deletion Syndrome
Progressive visual loss, Choroideremia, Constriction of peripheral visual field, Chorioretinal at... OMIM:303110
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Immunodeficiency 19
Recurrent otitis media, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B ce... OMIM:615617
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Photoph... ORPHA:370097
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Constriction of peripheral visual field, Visual impairment, Optic disc pallor... OMIM:616389
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormality of retinal pigmentation ORPHA:397951
Gyrate Atrophy Of Choroid And Retina
Progressive visual loss, Blindness, Abnormal macular morphology, Chorioretinal hyperpigmentation,... ORPHA:414
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Photophobia, Hypopigmentation of hai... OMIM:619165
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Blindness, Optic atrophy, Moderate myopia, Attenuation of retinal blood vesse... OMIM:300578
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Immunodeficiency 102
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Dec... OMIM:301082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... OMIM:601457
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Late-Onset Retinal Degeneration
Tritanomaly, Peripapillary atrophy, Iris transillumination defect, Red-green dyschromatopsia, Abn... ORPHA:67042
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:252650
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... OMIM:615518
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Åland Islands Eye Disease
Hypopigmentation of the fundus, Hypoplasia of the fovea, Color vision defect, Myopia, Difficulty ... ORPHA:178333
Optic Atrophy 1
Tritanomaly, Red-green dyschromatopsia, Optic atrophy, Centrocecal scotoma, Central scotoma, Visu... OMIM:165500
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Reduce... ORPHA:440727
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Coloboma Of Macula
Macular coloboma OMIM:120300
Cone-Rod Dystrophy 19
Perifoveal ring of hyperautofluorescence, High myopia, Cone/cone-rod dystrophy, Reduced visual ac... OMIM:615860
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... OMIM:231200
Retinitis Pigmentosa 75
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:617023
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Tritanomaly, Retinal pigment epithelial mottling, Photophobia, Parace... OMIM:619649
Optic Pathway Glioma
Precocious puberty, Blindness, Optic atrophy, Reduced visual acuity, Visual field defect, Visual ... ORPHA:2086
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Blindness, Retinal arteriolar occlusion, Dy... OMIM:193220
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Au... OMIM:614470
Hsd10 Mitochondrial Disease
Retinal degeneration, Cerebral cortical atrophy, Optic atrophy OMIM:300438
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Sjögren-Larsson Syndrome
Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness, Hepatic steatosis ORPHA:436182
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Bone spicule pigmentation of the retina, Myopia, Congenital stationary night blindne... OMIM:257270
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Cerebral atrophy, Optic atrophy OMIM:616211
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Coats Disease
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology ORPHA:190
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of periphera... OMIM:612989
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I... OMIM:610127
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Immunodeficiency 64 With Lymphoproliferation
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Decreased lymphocyt... OMIM:618534
Scheie Syndrome
Retinal degeneration OMIM:607016
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc pallor, Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Mac... ORPHA:364055
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... OMIM:300424
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Melanocytic nevus, Abnormality of macular pigmentation ORPHA:1573
Cofs Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Stickler Syndrome Type 2
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:617547
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... OMIM:300853
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Cer... OMIM:604360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Abnormality of the liver, Constriction of peripheral visual field, Hypergonad... OMIM:614307
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Splenomegaly OMIM:619164
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... OMIM:270200
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1390
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,... OMIM:619510
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni... OMIM:618935
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Reduced visual acuity, Optic atrophy OMIM:618770
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, High myopia, Congenital stationary night blindness, Visual impairment OMIM:614565
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy OMIM:264470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:169154
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... OMIM:187900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Oculocutaneous Albinism Type 1
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... ORPHA:352731
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymphoc... ORPHA:572
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... ORPHA:1655
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Leber Congenital Amaurosis 15
Hemeralopia, Peripapillary atrophy, Reduced visual acuity, Dull foveal reflex, Retinal degenerati... OMIM:613843
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White eyelashes, Aganglionic megacolon, W... ORPHA:897
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropathy, Hypoalbuminemia OMIM:615863
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization ORPHA:404451
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis OMIM:216950
Early-Onset X-Linked Optic Atrophy
Progressive visual loss, Optic atrophy, Optic disc pallor, Central scotoma, Color vision defect, ... ORPHA:98890
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Visual loss,... ORPHA:5
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... ORPHA:90280
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Bietti Crystalline Corneoretinal Dystrophy
Progressive visual loss, Retinal degeneration, Progressive night blindness, Paracentral scotoma, ... OMIM:210370
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Blindness, Cerebral atrophy OMIM:617899
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Brain atrophy, Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenu... OMIM:619260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy OMIM:268100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor OMIM:616171
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:249270
Renal Hypodysplasia/Aplasia 1
Primary amenorrhea, Vaginal atresia, Bicornuate uterus OMIM:191830
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... OMIM:617514
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism, Optic atrophy, Septo-optic dysplasia ORPHA:3301
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Inflammatory Bowel Disease (Crohn Disease) 30
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... OMIM:619079
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Usher Syndrome Type 1
Cerebral cortical atrophy, Hemianopia, Subcortical cerebral atrophy, Iris hypopigmentation, Scoto... ORPHA:231169
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Decreased testicular size, Abnormalit