| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Stargardt Disease |
|
Color vision defect, Aplasia/Hypoplasia of the macula, Central scotoma, Retinal pigment epithelia... |
ORPHA:827 |
| Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
| Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Central scotoma, Reduced visual acuity, Dyschromatopsia, Macular dys... |
OMIM:608051 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Best Vitelliform Macular Dystrophy |
|
Color vision defect, Visual field defect, Cystoid macular degeneration, Metamorphopsia, Choroider... |
ORPHA:1243 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmentation, Reduced visual ... |
OMIM:136550 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Adult-onset night blindness, Choroidal neovascularization, Visual loss, Retinal... |
OMIM:605670 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Progressive visual loss, Drusen, Choroidal neovascularization |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Optic Atrophy 5 |
|
Tritanomaly, Constriction of peripheral visual field, Central scotoma, Optic disc pallor, Abnorma... |
OMIM:610708 |
| Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Blindness, Hyporeflective spaces on macular OCT, Retina... |
ORPHA:59181 |
| Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Central scotoma, Macular drusen, Reduced visual acuity, Retinal pigment epit... |
OMIM:608850 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
| Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal bleeding, Splenomegaly |
ORPHA:231393 |
| Retinitis Pigmentosa 73 |
|
Color vision defect, Blurred vision, Peripapillary atrophy, Constriction of peripheral visual fie... |
OMIM:616544 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
| Macular Degeneration, Early-Onset |
|
Reduced visual acuity, Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Color vision defect, Vitelliform-like macular lesions, Visual impairment, Metamo... |
OMIM:608161 |
| Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Bothnia Retinal Dystrophy |
|
Paracentral scotoma, Color vision defect, Visual field defect, Central scotoma, Pigmentary retino... |
ORPHA:85128 |
| Retinal Cone Dystrophy 1 |
|
Color vision defect, Cone/cone-rod dystrophy, Progressive visual loss, Retinal degeneration, Phot... |
OMIM:180020 |
| Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Reduced visual acuity, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
| Birdshot Chorioretinopathy |
|
Vitreous floaters, Blurred vision, Abnormal retinal vascular morphology, Epiretinal membrane, Bli... |
ORPHA:179 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Cone-Rod Dystrophy 5 |
|
Color vision defect, Central scotoma, Cone/cone-rod dystrophy, Retinal pigment epithelial mottlin... |
OMIM:600977 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Visual impairment, Retinal detachment, Myopia, Chorioretinal atrophy |
OMIM:600790 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
| Macular Dystrophy, Patterned, 1 |
|
Pattern dystrophy of the retina, Metamorphopsia, Reduced visual acuity, Yellow/white lesions of t... |
OMIM:169150 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Retinitis Pigmentosa 70 |
|
Constriction of peripheral visual field, Macular degeneration, Optic disc pallor, Retinal degener... |
OMIM:615922 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Color vision defect, Vitelliform-like macular lesions, Abnormality of vision... |
ORPHA:99000 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Macular Degeneration, Atrophic, X-Linked |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
| Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Reduced visual acuity, Perifoveal ring of hyperautofluoresce... |
OMIM:619531 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Bietti Crystalline Dystrophy |
|
Blindness, Color vision defect, Paracentral scotoma, Constriction of peripheral visual field, Cen... |
ORPHA:41751 |
| Peripheral Cone Dystrophy |
|
Paracentral scotoma, Visual impairment, Cone/cone-rod dystrophy, Pericentral scotoma, Optic disc ... |
OMIM:609021 |
| Retinitis Pigmentosa 11 |
|
Blindness, Macular atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, Macular ... |
OMIM:600138 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Retinitis Pigmentosa 68 |
|
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... |
OMIM:615725 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
| Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
| Cone-Rod Dystrophy 13 |
|
Color vision defect, Visual impairment, Cone/cone-rod dystrophy, Macular degeneration, Reduced vi... |
OMIM:608194 |
| Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Tractional retinal detachment, Falciform retinal fold, Exudative vitreoretinopat... |
OMIM:613310 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Leber Congenital Amaurosis 19 |
|
Visual impairment, Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
| Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Color vision defect, Myopia, Retinal pigment epithelial mottling, Hypoautofluorescent macular les... |
OMIM:304020 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
| Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Cone-Rod Dystrophy 15 |
|
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... |
OMIM:613660 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Wagner Vitreoretinopathy |
|
Visual field defect, Optically empty vitreous, Vitreoretinopathy, Myopia, Peripheral tractional r... |
OMIM:143200 |
| Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Color vision defect, Central scotoma, Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic ... |
OMIM:300476 |
| Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Myopia, Retinal detachment, Reduced visual acuity, Retinal dots, Attenuati... |
OMIM:616188 |
| Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Irvan Syndrome |
|
Vitreous floaters, Blurred vision, Retinal exudate, Retinal detachment, Tractional retinal detach... |
ORPHA:209943 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Retinitis Pigmentosa 38 |
|
Macular atrophy, Constriction of peripheral visual field, Peripheral retinal atrophy, Optic disc ... |
OMIM:613862 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina |
OMIM:172870 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Reduced visual acuity, Nyctalopia, Attenuation of retinal ... |
OMIM:613194 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... |
OMIM:251270 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Cone/cone-rod dystrophy, Macular degeneration, Photophobia, Slow decrease in vis... |
OMIM:610381 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:606068 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
| Retinitis Pigmentosa 19 |
|
Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Bone spicule p... |
OMIM:601718 |
| Choroideremia |
|
Visual impairment, Abnormality of vision, Progressive visual loss, Abnormality of retinal pigment... |
ORPHA:180 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
| Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
| Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Progressive vi... |
OMIM:603075 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... |
OMIM:618195 |
| Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Optic Atrophy 1 |
|
Tritanomaly, Central scotoma, Centrocecal scotoma, Visual impairment, Abnormal amplitude of patte... |
OMIM:165500 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... |
OMIM:618697 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... |
OMIM:617460 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Progressive visual loss, Peripheral retinal degeneration, Myopia, Dyschr... |
OMIM:264420 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:616108 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Cone-Rod Dystrophy 2 |
|
Blindness, Color vision defect, Constriction of peripheral visual field, Central scotoma, Cone/co... |
OMIM:120970 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... |
ORPHA:231401 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
| Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... |
OMIM:613835 |
| Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:180100 |
| Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Retinitis Pigmentosa 3 |
|
Color vision defect, Perifoveal hypoautofluorescence, High myopia, Constriction of peripheral vis... |
OMIM:300029 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Posterior retinal... |
OMIM:193235 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Constriction of peripheral visual field, Hypermetropia, Cystoid macular degenera... |
OMIM:267760 |
| Optic Atrophy 8 |
|
Central scotoma, Visual impairment, Visual loss, Abnormality of pattern visual evoked potentials,... |
OMIM:616648 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:618613 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Vitreous floaters, Peripheral vitreoretinal degeneration, Mildly reduced visual acuity, Retinal d... |
OMIM:614292 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Gingival bleeding, Anemia, Reticulocytopenia, Ecchymosis, Thrombocytopenia, P... |
ORPHA:88 |
| Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... |
OMIM:312600 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... |
OMIM:612095 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... |
OMIM:604116 |
| Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:600105 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Acute Zonal Occult Outer Retinopathy |
|
Constriction of peripheral visual field, Macular drusen, Abnormal retinal vascular morphology, Pi... |
ORPHA:284454 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Spinocerebellar Ataxia 7 |
|
Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
| Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Retinitis Pigmentosa 77 |
|
Constriction of peripheral visual field, Retinal atrophy, Cystoid macular edema, Reduced visual a... |
OMIM:617304 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
| Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels |
OMIM:204000 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... |
OMIM:145350 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... |
ORPHA:79435 |
| Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
| Retinitis Pigmentosa 83 |
|
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... |
OMIM:618173 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613617 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Spermatogenic Failure 77 |
|
Cryptorchidism, Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagel... |
OMIM:620103 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... |
OMIM:605549 |
| Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Blindness, Retinal exudate, Retinal detac... |
OMIM:133780 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Retinitis Pigmentosa 23 |
|
Color vision defect, Constriction of peripheral visual field, Severely reduced visual acuity, Att... |
OMIM:300424 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Jalili Syndrome |
|
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... |
OMIM:217080 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation |
ORPHA:1390 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:613756 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Bone spicule p... |
OMIM:613983 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613810 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Blindness... |
ORPHA:891 |
| Canavan Disease |
|
Blindness, Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked p... |
ORPHA:141 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Joubert Syndrome 28 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:617121 |
| Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:602772 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
| Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, Aganglionic megacolon, Abnormality of ret... |
ORPHA:897 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Macular dystrophy |
OMIM:234580 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Blindness, Retinal exudate, Tractional retinal detachment, F... |
OMIM:601813 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus |
ORPHA:231736 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Narp Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... |
ORPHA:644 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
| Retinitis Punctata Albescens |
|
Macular atrophy, Central scotoma, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentar... |
ORPHA:52427 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Tritanomaly, Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Absent foveal reflex,... |
OMIM:615147 |
| Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:791 |
| Exudative Vitreoretinopathy 6 |
|
Retinal exudate, Retinal detachment, Tractional retinal detachment, Progressive visual loss, Patc... |
OMIM:616468 |
| Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Glial remnants anterior t... |
ORPHA:91495 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu... |
OMIM:228300 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Hypoplasia of the fovea, Optic nerve misrouting, Amblyopia, Reduced visual ac... |
ORPHA:352731 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... |
ORPHA:79434 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... |
OMIM:600132 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, High myopia |
OMIM:619781 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Bruising susceptibility, Anemia, Abnormal spleen morphol... |
ORPHA:464329 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Paracentral scotoma, Constriction of peripheral visual field, Progressive visual loss, Retinal de... |
OMIM:210370 |
| Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... |
ORPHA:79432 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
| Spermatogenic Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:615842 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
| Retinitis Pigmentosa 72 |
|
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:616469 |
| Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration, Photophobia, Hemeralopia, Visual impairment, Dyschromatopsia |
OMIM:617236 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Leukocytosis, Bundle branch block, Bradycardia, Neutrophilia, Epi... |
ORPHA:99827 |
| Eales Disease |
|
Rhegmatogenous retinal detachment, Peripheral retinal neovascularization, Ischemic stroke, Optic ... |
ORPHA:40923 |
| Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema |
OMIM:268100 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Constriction of peripheral visual field, Temporal optic disc pallor, Abnormal retinal nerve fiber... |
ORPHA:1215 |
| Leber Congenital Amaurosis 15 |
|
Color vision defect, Peripapillary atrophy, Constriction of peripheral visual field, Hypermetropi... |
OMIM:613843 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615233 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617547 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... |
ORPHA:5 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Congestive heart failure, Pericarditis, Splenomegaly |
ORPHA:163596 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... |
ORPHA:464321 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Pigmentary retinopathy |
ORPHA:370968 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks |
ORPHA:100996 |
| Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:255241 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of... |
OMIM:609033 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Hyphema |
OMIM:221900 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Leukopenia, Hypotension, Lymphopenia, Ecchymosis, Purpura, Thrombocyto... |
ORPHA:319213 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Hypotension, Anemia, Palpitations, Intracranial hemorrhage, Hypertension, Capillary... |
ORPHA:340 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:615986 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Thrombocytopenia, Lymphocytosis, Decreased ... |
OMIM:617718 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Neurocutaneous Melanocytosis |
|
Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma... |
ORPHA:2481 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Palpitations, Anemia of inade... |
ORPHA:86839 |
| Zika Virus Disease |
|
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... |
ORPHA:448237 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Progressive visual loss, Undetectable visual evoked pote... |
ORPHA:436245 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
| Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
| Cone-Rod Dystrophy 6 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
| Uveal Melanoma |
|
Vitreous hemorrhage, Retinal detachment |
ORPHA:39044 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
