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
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
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
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
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Visual loss, Blindness, Su... ORPHA:59181
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Amblyopia, Retinal pigment epithelial mottl... ORPHA:97341
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Blindness, 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
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Central scotoma, Macular dystrophy, Optic disc pallor, Reduced visual acu... OMIM:616170
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Choroideremia
Constriction of peripheral visual field, Hypopigmentation of the fundus, Chorioretinal degenerati... OMIM:303100
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule ... OMIM:180210
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:41751
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Macular dystrophy, Vitelliform-like macular le... OMIM:616152
Retinitis Pigmentosa 11
Nyctalopia, Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration... OMIM:600138
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Macular atrophy OMIM:617781
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T ce... OMIM:615615
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 47
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Visual impairment OMIM:613758
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Abnormality of vision, Nyct... ORPHA:180
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Retinal d... ORPHA:85128
Retinitis Pigmentosa 27
Blindness, Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapilla... OMIM:613750
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Retinitis Pigmentosa 17
Color vision defect, Rod-cone dystrophy, Photophobia, Bone spicule pigmentation of the retina, Ny... OMIM:600852
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Visual loss, Cerebellar atrophy, Cerebral atrophy, Blindness, Pigmentary retinopathy... OMIM:610951
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Macular Dystrophy, Vitelliform, 1
Visual impairment, Macular dystrophy, Vitelliform-like macular lesions, Visual field defect, Redu... OMIM:153840
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuat... OMIM:613428
Retinitis Pigmentosa 4
Blindness, Rod-cone dystrophy, Pigmentary retinopathy, Visual field defect, Nyctalopia OMIM:613731
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:614180
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Optic disc pallor, Visual field defect, Nyctalopia, Reduced vis... OMIM:617433
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Macular Dystrophy, Patterned, 1
Dark choroid, Reticular retinal dystrophy, Macular dystrophy, Pattern dystrophy of the retina, Ch... OMIM:169150
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Blindness, Rod-cone dystrophy, Cone/cone-rod dystrophy, Nyctalopia OMIM:610282
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central scotoma, Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Retinal t... OMIM:619382
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Macular dystrophy, Reduced visual acuity OMIM:601553
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, Drusen OMIM:616151
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
Newfoundland Rod-Cone Dystrophy
Color vision defect, Retinal dystrophy, Nyctalopia, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 7
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Adult-onset night ... OMIM:608133
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinal Detachment
Retinal detachment OMIM:180050
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Phot... OMIM:614500
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bon... OMIM:601718
Retinitis Pigmentosa 63
Rod-cone dystrophy, Blurred vision, Optic disc pallor, Nyctalopia OMIM:614494
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Retinopathy Of Prematurity
Abnormal macular morphology, Blindness, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tract... ORPHA:90050
Cone-Rod Dystrophy 12
Bull's eye maculopathy, Central scotoma, Color vision defect, Cone/cone-rod dystrophy, Nyctalopia... OMIM:612657
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Const... OMIM:606068
Retinitis Pigmentosa 37
Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cystoid macular... OMIM:611131
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Thr... OMIM:187800
Leber Congenital Amaurosis 4
Blindness, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Attenuation o... OMIM:604393
Retinitis Pigmentosa 92
Pigmentary retinopathy, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field,... OMIM:619614
Retinitis Pigmentosa 20
Rod-cone dystrophy, Severely reduced visual acuity, Nyctalopia, Attenuation of retinal blood vess... OMIM:613794
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 18
Progressive visual field defects, Rod-cone dystrophy, Retinal arteriolar constriction, Nyctalopia... OMIM:601414
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Retinoschisis Of Fovea
Visual loss, Hypermetropia, Macular dystrophy, Rod-cone dystrophy, Foveoschisis, Mildly reduced v... OMIM:268080
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Cone-Rod Dystrophy 21
Photophobia, Macular atrophy, Retinal dystrophy, Nyctalopia, Reduced visual acuity OMIM:616502
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Retinal Cone Dystrophy 3A
Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dystrophy, Nyctalopia, Reduced visual... OMIM:610024
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Optic atrophy OMIM:616211
Retinal Cone Dystrophy 4
Visual impairment, Retinal pigment epithelial mottling, Photophobia, Cone/cone-rod dystrophy, Con... OMIM:610478
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor, Visual field defect, Nyctalopia OMIM:614181
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Constriction of periphe... OMIM:120970
Nanophthalmos 4
Reduced visual acuity, Optic disc drusen, Visual impairment OMIM:615972
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
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
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Visual impairment, Reduced visual acuity OMIM:610156
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
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
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Myopia, Abnormality of retinal pigmentation, Hypermetropia... ORPHA:215
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Blindness, Pigmentary retinopathy, Optic disc pallor, Photo... OMIM:204100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Retinitis Pigmentosa 1
Myopia, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Constriction of ... OMIM:180100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Optic disc pallor, Photophobia, Retinal dystrophy, Nyctalopia OMIM:616079
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Nyct... OMIM:180104
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Cavitary Optic Disc Anomalies
Peripapillary atrophy, Nyctalopia, Visual field defect, Reduced visual acuity OMIM:611543
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Nyctalopia, Attenuatio... OMIM:613194
Cone Dystrophy 3
Progressive visual loss, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Reduced visual ac... OMIM:602093
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity, Optic atrophy OMIM:309555
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Visual i... OMIM:611040
Retinitis Pigmentosa 2
Bull's eye maculopathy, Pericentral scotoma, Central scotoma, Fundus atrophy, High myopia, Ring s... OMIM:312600
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Optic disc pa... OMIM:619389
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Visual impairment, Optic disc pallor, Cerebral visual impairment, Visual field defect, Optic atro... OMIM:615722
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retin... OMIM:251270
Optic Atrophy 12
Dyschromatopsia, Optic disc pallor, Photophobia, Abnormal Ishihara plate test, Optic atrophy, Red... OMIM:618977
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Central heterochromia OMIM:275400
Achromatopsia 7
Absent foveal reflex, Central scotoma, Hypoplasia of the fovea, Achromatopsia, Photophobia, Macul... OMIM:616517
Optic Atrophy 9
Paracentral scotoma, Reduced visual acuity, Optic atrophy, Red-green dyschromatopsia, Visual impa... OMIM:616289
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 79
Optic disc pallor, Photophobia, Macular atrophy, Nyctalopia, Constriction of peripheral visual fi... OMIM:617460
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Visual impairment, Congenital stationary night blindness, Myopia OMIM:614565
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Cone Dystrophy 4
Visual impairment, Dyschromatopsia, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity OMIM:613093
Tritanopia
Abnormal retinal morphology, Color vision test abnormality, Tritanomaly, Photophobia, Reduced vis... ORPHA:88629
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Myopia, Blindness, Retinal exudate,... ORPHA:71213
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia, Constriction ... OMIM:312612
Usher Syndrome, Type Iiia
Rod-cone dystrophy, Nyctalopia, Visual field defect, Reduced visual acuity OMIM:276902
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, Lack of ... ORPHA:277
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Blindness, Hepatomegaly, Pigmentary retinopathy, Photophobia, ... OMIM:204000
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Fundus Albipunctatus
Retinal flecks, Nyctalopia, Fundus albipunctatus OMIM:136880
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa
Rod-cone dystrophy, Constriction of peripheral visual field, Abnormality of fundus pigmentation, ... OMIM:268000
Retinitis Pigmentosa 12
Rod-cone dystrophy, Nyctalopia OMIM:600105
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity,... ORPHA:90283
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Autoimmunity, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Cerebellar atrophy, Retinal degeneration OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular d... OMIM:256730
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Visual impairment, Chorioretinal dysplasia, Reduced visual acuity OMIM:616335
Retinitis Pigmentosa 60
Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:613983
Cone-Rod Dystrophy 20
Central scotoma, Color vision defect, Visual impairment, Cone/cone-rod dystrophy, Constriction of... OMIM:615973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 51
High myopia, Visual impairment, Rod-cone dystrophy, Macular degeneration, Photophobia, Bone spicu... OMIM:613464
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic disc pallor, Optic atrophy, Reduced visual acuity OMIM:165300
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Blue Cone Monochromacy
Visual impairment, Myopia, Blue cone monochromacy, Abnormality of macular pigmentation, Photophob... OMIM:303700
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Atten... OMIM:613756
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Visual impairment, Retinal exudate, Tractional retinal detachment, R... OMIM:613310
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Usher Syndrome, Type 1M
Optic disc pallor, Left ventricular hypertrophy, Drusen, Nyctalopia OMIM:618632
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Antimitoch... OMIM:610163
Retinitis Pigmentosa 66
Central scotoma, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:615233
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Leber Congenital Amaurosis 14
Congenital blindness, Rod-cone dystrophy, Optic disc pallor, Photophobia, Retinal dystrophy, Nyct... OMIM:613341
Leber Congenital Amaurosis 16
Optic disc pallor, Photophobia, Reduced visual acuity, Nyctalopia, Visual impairment OMIM:614186
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Visual loss, Central scotoma, Color vision defect, Pigmentary retinopathy... OMIM:604116
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Congenital Glaucoma
Retinal detachment ORPHA:98976
Nephronophthisis 15
Retinal degeneration OMIM:614845
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Vacuolated lymphocytes, Blindness, Progressive visual loss, Rod-cone dystrophy,... OMIM:204200
Bardet-Biedl Syndrome 5
Micropenis, Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Red... OMIM:615983
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Fetal Cytomegalovirus Syndrome
Anemia, Abnormality of vision, Splenomegaly, Hepatomegaly ORPHA:294
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Jalili Syndrome
Optic disc pallor, Photophobia, Monochromacy, Cone/cone-rod dystrophy, Nyctalopia OMIM:217080
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... ORPHA:444463
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Severely reduced visual acuity, Ma... OMIM:612095
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Central scotoma, Color vision defect, Visual impairment, Myopia, Retinal de... OMIM:300476
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Retinal Cone Dystrophy 3B
Myopia, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Scotoma OMIM:610356
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Blindness, Abnormality of retinal pigmentation, Retinal arteriola... OMIM:605549
Retinitis Pigmentosa 58
Rod-cone dystrophy, Optic disc pallor, Severely reduced visual acuity, Bone spicule pigmentation ... OMIM:613617
Bornholm Eye Disease
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia... OMIM:300843
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Progressive visual loss, Congenital hepat... ORPHA:3156
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:284454
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinopathy, Pigmentary, And Mental Retardation
Visual impairment, Myopia, Pigmentary retinopathy, Hypogonadism, Reduced visual acuity OMIM:268050
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Blurred vision, Photophobia, Tractional retin... ORPHA:209943
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Color vision defect, Hypermetropia, Myopia, Pigmentary retinop... OMIM:613843
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Pelvic mass, Uterus didelphys, Abdominal mass, Vaginal at... ORPHA:65681
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Leber Congenital Amaurosis 9
Hypermetropia, Optic atrophy, Optic disc pallor, Photophobia, Macular coloboma, Nyctalopia, Atten... OMIM:608553
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinitis Pigmentosa
Progressive night blindness, Blindness, Abnormality of retinal pigmentation, Hypoplasia of penis,... ORPHA:791
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Peripheral retinal avascularization, Blindness, Retinal exudate, Fal... OMIM:601813
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media OMIM:608971
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy OMIM:612572
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Retinal atrophy, Rod-cone dystrophy, Hyperautofluoresc... OMIM:617406
Sandhoff Disease
Blindness, Cherry red spot of the macula, Splenomegaly, Hepatomegaly ORPHA:796
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Bardet-Biedl Syndrome 1
Retinal degeneration, Hepatic fibrosis, Myopia, Micropenis, Abnormality of the ovary, Vaginal atr... OMIM:209900
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Vitelliform-like macular lesions, Choroideremia, Iris... ORPHA:99000
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Abnormal dense granule content, Prolonged bleeding time, Abnormal ... OMIM:601399
Bardet-Biedl Syndrome 3
External genital hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Nyctalopia, Visual impai... OMIM:600151
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Retinitis Punctata Albescens
Absent foveal reflex, Central scotoma, Progressive night blindness, Progressive visual field defe... ORPHA:52427
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Photophobia, Bone spicule pigmentat... OMIM:602772
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Central scotoma, Color vision defect, Blind-spot enlargment, Optic disc pallor, Photophobia, Redu... OMIM:616732
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma ORPHA:2196
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormality of the optic nerve, Rod-cone dystrophy, Abnormal fundus morphology, Absent retinal pi... ORPHA:436274
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Blurred vision, Retinal fold, Visual field defect, Exudative retinal detachment... ORPHA:209956
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... OMIM:139090
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Narp Syndrome
Corticospinal tract atrophy, Blindness, Retinal arteriolar tortuosity, Retinal pigment epithelial... ORPHA:644
Corneal Dystrophy, Avellino Type
Visual impairment, Reduced visual acuity OMIM:607541
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Retinitis Pigmentosa 89
Hepatosplenomegaly, Nyctalopia, Retinal thinning, Rod-cone dystrophy, Hyperautofluorescent retina... OMIM:618955
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Albinism, Oculocutaneous, Type Vi
Visual impairment, Hypoplasia of the fovea, Photophobia, Generalized hypopigmentation, Reduced vi... OMIM:113750
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Progressive visual loss, Choroideremia, Chorioretinal atrophy, Nyctal... OMIM:303110
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:252650
Late-Onset Retinal Degeneration
Abnormal best corrected visual acuity test, Visual loss, Fundus atrophy, Nyctalopia, Peripapillar... ORPHA:67042
Vitreoretinochoroidopathy
Color vision defect, Abnormality of chorioretinal pigmentation, Dyschromatopsia, Blindness, Retin... OMIM:193220
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy, Cerebral cortical atrophy OMIM:300438
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor, Constriction of per... OMIM:616389
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Abnormal macular morphology, Progressive night blindness, Myopia... ORPHA:414
Optic Atrophy 1
Central scotoma, Visual impairment, Centrocecal scotoma, Tritanomaly, Optic atrophy, Red-green dy... OMIM:165500
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Cryptorchidism, Blindness, Pigmentary retinopathy, Rod-cone dystrophy, Moderate my... OMIM:300578
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Photophobia, Nyctalopia, Constricti... OMIM:616469
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Prolong... OMIM:231200
Chromosome 16Q12 Duplication Syndrome
High myopia, Temporal optic disc pallor, Retinal pigment epithelial mottling, Tritanomaly, Photop... OMIM:619649
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Åland Islands Eye Disease
Color vision defect, Myopia, Hypoplasia of the fovea, Hypopigmentation of the fundus, Difficulty ... ORPHA:178333
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Optic Pathway Glioma
Visual loss, Blindness, Papilledema, Precocious puberty, Visual field defect, Optic atrophy, Redu... ORPHA:2086
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Blindness, Abnormality of the optic disc, Retinal vascular tortuosity, Reduced... ORPHA:440727
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Cone-Rod Dystrophy 10
Abnormality of skin pigmentation, Progressive visual loss, Rod-cone dystrophy, Macular degenerati... OMIM:610283
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Coloboma Of Macula
Macular coloboma OMIM:120300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Hepatic steatosis, Retinal detachment ORPHA:436182
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Retinal atrophy, Rod-cone dystrophy, Increased neuronal aut... OMIM:610127
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Chorioretinal atrophy, Myopia OMIM:258870
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:1466
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Retinal dystrophy, Premature ovarian insufficiency, Reduced visual acuity OMIM:617175
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Myopia 22, Autosomal Dominant
Visual impairment, Myopia, Reduced visual acuity OMIM:615420
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Optic Atrophy 7 With Or Without Auditory Neuropathy
Central scotoma, Visual impairment, Dyschromatopsia, Optic disc pallor, Optic atrophy, Constricti... OMIM:612989
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Prolonged bleeding time OMIM:608404
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Abnormality of macular pigmentation, Freckling, Macular degeneration ORPHA:1573
Scheie Syndrome
Retinal degeneration OMIM:607016
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, B lymphocytopenia, Lymphopenia OMIM:619164
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Degeneration of the latera... OMIM:604360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Keratoconus 9
Reduced visual acuity OMIM:617928
Retinal Aplasia
Congenital blindness OMIM:179900
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy OMIM:615863
Foveal Hypoplasia 2
Visual impairment, Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Red... OMIM:609218
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Acute pancreatitis, Lymphadenitis, Rheu... OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, T lymphocytopenia, Sclerosing cholangitis, Autoimmunity, Abnormal CD4:CD... ORPHA:572
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia OMIM:617547
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked pote... ORPHA:352731
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Reduced visual acuity OMIM:618541
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Early-Onset X-Linked Optic Atrophy
Central scotoma, Color vision defect, Progressive visual loss, Decreased nerve conduction velocit... ORPHA:98890
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Cryptorchidism, Micropenis, Vaginal atresia, Splenomegaly, Pulmonary lymphang... ORPHA:1655
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration ORPHA:404451
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Reduced visual acuity OMIM:618770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Visual loss, Myopia, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal cho... ORPHA:5
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Vitreoretinopathy, Macular edema, Retinoschisis OMIM:268100
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Leukodystrophy, Hypomyelinating, 14
Blindness, Cerebral atrophy, Cerebellar atrophy OMIM:617899
Neovascular Glaucoma
Retinal vein occlusion, Retinal vascular proliferation, Abnormality of the optic nerve, Retinal d... ORPHA:94058
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Reduced visual acuity, Optic disc pallor, Photophobia, Retinal thinning OMIM:618970
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Visual impairment, Polycystic ovaries, Cryptorchidism, Abnormality of retinal... ORPHA:3085
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Retinal degeneration, Optic atrophy OMIM:249270
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy ORPHA:2801
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Septo-optic dysplasia, Vaginal atresia, Optic atrophy ORPHA:3301
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Congenital Toxoplasmosis