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:
N/A

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
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Retinal dystrophy OMIM:615860
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
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
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Retinitis Pigmentosa Inversa With Deafness
Blindness, Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia OMIM:268010
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Reduced visual acuity, Moderately reduced visual acuity, Drusen... OMIM:616151
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Reduced visual acuity, Central scotoma, Moderately reduced visu... OMIM:616152
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 80
Macular atrophy, Blindness, Progressive visual loss OMIM:617781
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Night Blindness, Congenital Stationary, Type 1G
Blindness, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Increased extraneuronal autoflu... OMIM:204500
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Blindness, Cerebellar a... OMIM:610951
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Reduced visual acuity, Central scotoma, Central retinal vessel vascula... OMIM:619382
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Retinitis Pigmentosa 78
Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic d... OMIM:617433
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Blindness, Rod-cone dystrophy OMIM:610282
Progressive Cone Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment ORPHA:1871
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity, Macular dystrophy OMIM:601553
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Retinal dystrophy, Color vision defect, Visual impairment OMIM:607476
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia, Rod-cone dystrophy, Optic disc pallor OMIM:614494
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Leber Congenital Amaurosis 4
Macular atrophy, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/co... OMIM:604393
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Choroideremia
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303100
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:300578
Retinitis Pigmentosa 20
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Visual impairme... OMIM:613794
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Retinitis Pigmentosa 18
Nyctalopia, Scotoma, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Nanophthalmos 4
Optic disc drusen, Visual impairment, Reduced visual acuity OMIM:615972
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Foveoschisis, Mildly reduced visual acuity, Hypermetropia, Rod-cone dyst... OMIM:268080
Cone-Rod Dystrophy 21
Macular atrophy, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Photophobia OMIM:616502
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Micropenis, Visual impairment, Retinal dystrophy OMIM:610156
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dy... OMIM:610024
Retinitis Pigmentosa 62
Nyctalopia, Visual field defect, Rod-cone dystrophy, Optic disc pallor OMIM:614181
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Cone Dystrophy 3
Macular atrophy, Reduced visual acuity, Cone/cone-rod dystrophy, Progressive visual loss, Photoph... OMIM:602093
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Nyctalopia, Central scotoma, Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Visual field defect, Reduced visual acuity OMIM:611543
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Retinitis Pigmentosa 50
Nyctalopia, Retinal flecks, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal ... OMIM:613194
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visu... OMIM:611040
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Reduced visual acuity, Visual field defect, Cerebral visual impairment, Visual impairment, Optic ... OMIM:615722
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Dyschromatopsia, Photophobia, Optic atrophy,... OMIM:618977
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Optic Atrophy 9
Reduced visual acuity, Paracentral scotoma, Visual impairment, Red-green dyschromatopsia, Optic a... OMIM:616289
Achromatopsia 7
Macular atrophy, Absent foveal reflex, Reduced visual acuity, Central scotoma, Achromatopsia, Pho... OMIM:616517
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone Dystrophy 4
Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment, Photophobia OMIM:613093
Tritanopia
Photophobia, Reduced visual acuity, Abnormal retinal morphology, Tritanomaly, Color vision test a... ORPHA:88629
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinitis Pigmentosa 79
Macular atrophy, Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Phot... OMIM:617460
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinal Capillary Malformation
Retinal capillary hemangioma, Reduced visual acuity, Myopia, Epiretinal membrane, Blurred vision,... ORPHA:71213
Usher Syndrome, Type Iiia
Nyctalopia, Visual field defect, Rod-cone dystrophy, Reduced visual acuity OMIM:276902
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, Increased ci... ORPHA:277
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Blindness, Pancreatitis, Rod-cone dystrophy, Optic ... OMIM:616394
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:256731
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 12
Nyctalopia, Rod-cone dystrophy OMIM:600105
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Optic atr... OMIM:256730
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 60
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:613983
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic atrophy, Optic disc pallor, Reduced visual acuity OMIM:165300
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Cone-Rod Dystrophy 20
Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect, Constrictio... OMIM:615973
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Abnormality of macular pigmentation, Visua... OMIM:303700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:619090
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:610127
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Reduced visual acuity, Retinal exudat... OMIM:613310
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Nephronophthisis 14
Retinal degeneration OMIM:614844
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Hepatomegaly, Blindness, Fundus atrophy, Photophobia OMIM:204000
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Usher Syndrome, Type 1M
Nyctalopia, Drusen, Left ventricular hypertrophy, Optic disc pallor OMIM:618632
Cone-Rod Dystrophy 3
Visual loss, Pigmentary retinopathy, Attenuation of retinal blood vessels, Central scotoma, Cone/... OMIM:604116
Nephronophthisis 15
Retinal degeneration OMIM:614845
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Bardet-Biedl Syndrome 5
Reduced visual acuity, External genital hypoplasia, Hypogonadism, Micropenis, Rod-cone dystrophy,... OMIM:615983
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Congenital blindness, Retinal dystrophy, Photophobia, Rod-cone... OMIM:613341
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual impairment, Photophobia, Optic disc pallor OMIM:614186
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Vacuolated lymphocytes, Cerebral atrophy, Bl... OMIM:204200
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Abnormality of vision, Anemia, Splenomegaly ORPHA:294
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Jalili Syndrome
Nyctalopia, Cone/cone-rod dystrophy, Monochromacy, Photophobia, Optic disc pallor OMIM:217080
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis, Visual impai... ORPHA:3156
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Retinal Cone Dystrophy 3B
Macular atrophy, Nyctalopia, Scotoma, Myopia, Cone/cone-rod dystrophy, Photophobia OMIM:610356
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Reduced visual acuity, Myopia, Visual impairment, Hypogonadism OMIM:268050
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Visual impairment, Reduced visual acuity OMIM:164100
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Bornholm Eye Disease
Protanopia, Abnormality of retinal pigmentation, Amblyopia, High myopia, Optic nerve hypoplasia, ... OMIM:300843
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Oguchi Disease
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness ORPHA:75382
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 9
Nyctalopia, Attenuation of retinal blood vessels, Macular coloboma, Hypermetropia, Photophobia, O... OMIM:608553
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal testis morphology, Progressive night blindness, Bli... ORPHA:791
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Reduced visua... OMIM:601813
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Hardikar Syndrome
Mottled pigmentation, Pigmentary retinopathy, Hepatomegaly, Jaundice, Vaginal atresia, Cholangiti... OMIM:612726
Bardet-Biedl Syndrome 21
Retinal atrophy, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macular lesion, ... OMIM:617406
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Retinitis Pigmentosa 10
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Geographic atrophy, B... OMIM:180105
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Retinal nonattachment, Abnormality of vi... ORPHA:99000
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media OMIM:608971
Sandhoff Disease
Hepatomegaly, Blindness, Cherry red spot of the macula, Splenomegaly ORPHA:796
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303110
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Aganglionic megacolon, Myopia, Biliary tract abnormality, Retinal dystr... OMIM:209900
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinitis Pigmentosa 66
Nyctalopia, Reduced visual acuity, Central scotoma, Constriction of peripheral visual field, Visu... OMIM:615233
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Color vision defect, Photophobia, Blind-spot enlargment, ... OMIM:616732
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Photophobia, Reduced visual acuity, Abnormal foveal morphology on mac... ORPHA:370097
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Bardet-Biedl Syndrome 3
Nyctalopia, Pigmentary retinopathy, External genital hypoplasia, Visual impairment, Rod-cone dyst... OMIM:600151
Idiopathic Uveal Effusion Syndrome
Retinal fold, Metamorphopsia, Reduced visual acuity, Visual field defect, Blurred vision, Subreti... ORPHA:209956
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Corneal Dystrophy, Avellino Type
Visual impairment, Reduced visual acuity OMIM:607541
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Reduced visual acuity, Chorioretinal hypopigmentation, Iris transillumi... OMIM:619165
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Attenuation of retinal blood vessels, Abnormality of the optic nerve, Absent retinal ... ORPHA:436274
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Narp Syndrome
Retinal pigment epithelial mottling, Abnormal visual field test, Cerebral cortical atrophy, Blind... ORPHA:644
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Gray Platelet Syndrome
Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-induced platelet ag... OMIM:139090
Albinism, Oculocutaneous, Type Vi
Reduced visual acuity, Visual impairment, Photophobia, Hypoplasia of the fovea, Generalized hypop... OMIM:113750
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Retinitis Pigmentosa 89
Micronodular cirrhosis, Nyctalopia, Retinal thinning, Hepatic fibrosis, Intrahepatic bile duct di... OMIM:618955
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Nyctalopia, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Retinal degeneration OMIM:300438
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Myopia, Progressive night blindness, Blindnes... ORPHA:414
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration OMIM:615994
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Partial absence of specific an... OMIM:618108
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Lymphopenia, Decr... OMIM:615518
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Retinitis Pigmentosa 72
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Peripapi... OMIM:616469
Cone-Rod Dystrophy 10
Abnormality of skin pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Peripheral visual field lo... OMIM:610283
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:277480
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Åland Islands Eye Disease
Reduced visual acuity, Myopia, Difficulty adjusting from light to dark, Hypopigmentation of the f... ORPHA:178333
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Increased circulating antibody... OMIM:618495
Optic Pathway Glioma
Visual loss, Reduced visual acuity, Visual field defect, Papilledema, Blindness, Optic atrophy, P... ORPHA:2086
Coloboma Of Macula
Macular coloboma OMIM:120300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Congenital blindness, Retinal detachment ORPHA:436182
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal thinning, Retinal dystrophy OMIM:615960
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Gian... OMIM:231200
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness, Vitreoretinopathy, Abnormality of the optic disc, Retinal vascu... ORPHA:440727
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Chorioretinal atrophy, Myopia OMIM:258870
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Reduced visual acuity, Retinal dystrophy OMIM:617175
Cofs Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Myopia 22, Autosomal Dominant
Myopia, Visual impairment, Reduced visual acuity OMIM:615420
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Optic Atrophy 7 With Or Without Auditory Neuropathy
Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of peripheral visual field,... OMIM:612989
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss OMIM:601338
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Freckling, Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Eosinophilopenia
Autoimmunity, Decreased eosinophil count, Allergic rhinitis OMIM:131430
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Macular degeneration... OMIM:604360
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced visual acuity, Hepatomegaly, Cerebellar atrophy, Splenomegaly, Hypopigmentation of the skin OMIM:618541
Scheie Syndrome
Retinal degeneration OMIM:607016
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Keratoconus 9
Reduced visual acuity OMIM:617928
Retinal Aplasia
Congenital blindness OMIM:179900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ulcerative colit... OMIM:618935
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Masp2 Deficiency
Systemic lupus erythematosus, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Foveal Hypoplasia 2
Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting, Visual impairment, Hypop... OMIM:609218
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Photophobia, Retinal dystrophy OMIM:617547
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Early-Onset X-Linked Optic Atrophy
Reduced visual acuity, Central scotoma, Color vision defect, Progressive visual loss, Decreased n... ORPHA:98890
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly OMIM:619164
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody leve... OMIM:300853
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Chronic hepatitis due to cryptosporidium infection, T lymphocytopenia, Abnormal CD4:CD... ORPHA:572
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hepatomegaly, Abnormal fa... ORPHA:1655
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Choroidal neovascularization ORPHA:404451
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Visual loss, Nyctalopia, ... ORPHA:5
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Hyperlipoproteinemia, Type Id
Hepatomegaly, Lipemia retinalis, Splenomegaly OMIM:615947
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Leukodystrophy, Hypomyelinating, 14
Blindness, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Reduced visual acuity OMIM:618770
Apolipoprotein A-I Deficiency
Blurred vision, Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:425
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:618329
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Polycystic o... ORPHA:3085
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Abnormality of the optic nerve... ORPHA:94058
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Autoimmunity, Megaloblastic anemia, Lymphopenia, Decreased circulating antibody l... OMIM:617780
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia, Optic atrophy, Septo-optic dysplasia ORPHA:3301
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Myopia, Congenital stationary night blindness OMIM:613216
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Aceruloplasminemia
Retinal degeneration OMIM:604290
Albinism, Oculocutaneous, Type Ii
Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Reduced visual acuit... OMIM:203200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent otitis media, Lymphop... OMIM:600802
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anem... ORPHA:858
Spastic Paraplegia 55, Autosomal Recessive
Central scotoma, Optic atrophy, Visual impairment, Reduced visual acuity OMIM:615035
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16