| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Cone-Rod Dystrophy 7 |
|
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr... |
OMIM:603649 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Macular dystrophy, Drusen, Dyschromatopsia, Central scotoma, Abnormality of macular pigmentation,... |
OMIM:136550 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... |
ORPHA:3002 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Leber Congenital Amaurosis 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... |
OMIM:612712 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho... |
ORPHA:1243 |
| Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Macular dystrophy, Dyschromatopsia, Central scotoma, Reduced visual ... |
OMIM:608051 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma... |
OMIM:605670 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V... |
ORPHA:59181 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss |
OMIM:615439 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... |
OMIM:613424 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Central Areolar Choroidal Dystrophy |
|
Visual loss, Drusen, Full-thickness macular hole, Dyschromatopsia, Absent retinal pigment epithel... |
ORPHA:75377 |
| Choroideremia |
|
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... |
OMIM:303100 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... |
ORPHA:97341 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... |
OMIM:616544 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Retinal Cone Dystrophy 1 |
|
Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene... |
OMIM:180020 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Liberfarb Syndrome |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... |
OMIM:618889 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Peripheral cystoid retinal degeneration, Retinal pigment epi... |
OMIM:312700 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Bothnia Retinal Dystrophy |
|
Large central visual field defect, Color vision defect, Central scotoma, Increased OCT-measured f... |
ORPHA:85128 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Reduced visual acuity, Choroidal neovascularization |
OMIM:616118 |
| Macular Dystrophy, Vitelliform, 3 |
|
Color vision defect, Macular dystrophy, Drusen, Choroidal neovascularization, Photophobia, Vitell... |
OMIM:608161 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Left Ventricular Noncompaction 10 |
|
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... |
OMIM:615396 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ... |
OMIM:605750 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... |
OMIM:607921 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... |
OMIM:601493 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Retinitis Pigmentosa 57 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... |
OMIM:613582 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Stargardt Disease |
|
Retinal thinning, Color vision defect, Central scotoma, Macular degeneration, Photopsia, Abnormal... |
ORPHA:827 |
| Retinitis Pigmentosa 33 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:610359 |
| Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Arcuate scotoma, Retinal thinning, Visual loss, Choroidal neov... |
ORPHA:179 |
| Cone-Rod Dystrophy 24 |
|
Color vision defect, Scotoma, Photophobia, Macular degeneration, Pericentral scotoma, Cone/cone-r... |
OMIM:620342 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Cone-Rod Dystrophy 22 |
|
Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ... |
OMIM:619531 |
| Cone-Rod Dystrophy 5 |
|
Color vision defect, Photophobia, Central scotoma, Macular degeneration, Cone/cone-rod dystrophy,... |
OMIM:600977 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy |
OMIM:600790 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Macular Dystrophy, Patterned, 1 |
|
Dark choroid, Macular dystrophy, Pattern dystrophy of the retina, Choroidal neovascularization, P... |
OMIM:169150 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Retinitis Pigmentosa 70 |
|
Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de... |
ORPHA:99000 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Bietti Crystalline Dystrophy |
|
Large central visual field defect, Constriction of peripheral visual field, Color vision defect, ... |
ORPHA:41751 |
| Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
| Retinitis Pigmentosa 54 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613428 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
| Optic Atrophy 6 |
|
Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment |
OMIM:258500 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... |
OMIM:613642 |
| Cone-Rod Dystrophy 13 |
|
Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a... |
OMIM:608194 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Paracentral scotoma, Pericentral scotoma, Cone/co... |
OMIM:609021 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Retinitis Pigmentosa 11 |
|
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener... |
OMIM:600138 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu... |
OMIM:615725 |
| Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... |
OMIM:617871 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
| Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
| Retinitis Pigmentosa 62 |
|
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... |
OMIM:614181 |
| Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuit... |
OMIM:613310 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy |
ORPHA:75373 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor, Visual impairment |
OMIM:618513 |
| Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
| Retinitis Pigmentosa 96 |
|
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:620228 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... |
OMIM:613731 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling |
OMIM:551500 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... |
OMIM:620102 |
| Retinitis Pigmentosa 76 |
|
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... |
OMIM:617123 |
| Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... |
OMIM:608133 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti... |
OMIM:304020 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ... |
OMIM:613194 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig... |
OMIM:300476 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
| Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal... |
OMIM:613660 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... |
ORPHA:261529 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... |
OMIM:613750 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr... |
OMIM:143200 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... |
OMIM:619007 |
| Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Newfoundland Rod-Cone Dystrophy |
|
Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central... |
OMIM:607476 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... |
OMIM:616188 |
| Irvan Syndrome |
|
Optic atrophy, Photophobia, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional re... |
ORPHA:209943 |
| Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:614500 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina |
OMIM:172870 |
| Retinitis Pigmentosa 38 |
|
Constriction of peripheral visual field, Progressive visual loss, Rod-cone dystrophy, Peripheral ... |
OMIM:613862 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... |
OMIM:251270 |
| Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
| Choroideremia |
|
Abnormality of vision, Abnormality of retinal pigmentation, Myopia, Progressive visual loss, Visu... |
ORPHA:180 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Cone-Rod Dystrophy 11 |
|
Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c... |
OMIM:610381 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Retinitis Pigmentosa 19 |
|
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall... |
OMIM:601718 |
| Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:606068 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Achromatopsia |
|
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... |
ORPHA:49382 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... |
OMIM:618220 |
| Retinitis Pigmentosa 88 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... |
OMIM:618826 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... |
OMIM:618144 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Retinitis Pigmentosa 6 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration |
OMIM:312612 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... |
ORPHA:506353 |
| Optic Atrophy 5 |
|
Constriction of peripheral visual field, Optic atrophy, Tritanomaly, Abnormality of pattern visua... |
OMIM:610708 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... |
OMIM:618697 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Microphthalmia, Isolated 5 |
|
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... |
OMIM:611040 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... |
ORPHA:215 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Dyschromatopsia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, My... |
OMIM:264420 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... |
OMIM:604169 |
| Retinitis Pigmentosa 79 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... |
OMIM:617460 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Cone-Rod Dystrophy 2 |
|
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... |
OMIM:120970 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... |
OMIM:616108 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... |
OMIM:204100 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... |
OMIM:613835 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Retinitis Pigmentosa 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:180100 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... |
ORPHA:231401 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... |
OMIM:608553 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Thrombocytopenia,... |
ORPHA:88 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal... |
OMIM:193235 |
| Retinitis Pigmentosa 3 |
|
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... |
OMIM:300029 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Cystoid macular degeneration, Hypermetropia, Retinal deg... |
OMIM:267760 |
| Retinitis Pigmentosa 86 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... |
OMIM:618613 |
| Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce... |
OMIM:608850 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration, Mildly reduced visual acu... |
OMIM:614292 |
| Retinitis Pigmentosa 41 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... |
OMIM:612095 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... |
OMIM:604116 |
| Retinitis Pigmentosa 12 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:600105 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Acute Zonal Occult Outer Retinopathy |
|
Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti... |
ORPHA:284454 |
| Retinitis Pigmentosa 2 |
|
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... |
OMIM:312600 |
| Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Retinitis Pigmentosa 46 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy |
OMIM:612572 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... |
OMIM:617304 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Retinal degeneration, Pigmentary retinopathy |
ORPHA:3363 |
| Retinitis Pigmentosa 10 |
|
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... |
OMIM:180105 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
High myopia, Retinal detachment, Retinal fold, Intraretinal exudate, Reduced visual acuity, Perip... |
OMIM:305390 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:615973 |
| Oculocutaneous Albinism Type 4 |
|
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... |
ORPHA:79435 |
| Retinitis Pigmentosa 58 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613617 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... |
OMIM:145350 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... |
OMIM:618173 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta... |
ORPHA:816 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... |
OMIM:620103 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Cone-Rod Dystrophy 8 |
|
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... |
OMIM:605549 |
| Retinitis Pigmentosa 56 |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:613581 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Retinitis Pigmentosa 43 |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:613810 |
| Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati... |
OMIM:300424 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology |
ORPHA:1390 |
| Jalili Syndrome |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:217080 |
| Retinitis Pigmentosa 25 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... |
OMIM:602772 |
| Retinitis Pigmentosa 49 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613756 |
| Laurence-Moon Syndrome |
|
Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:245800 |
| Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... |
OMIM:613464 |
| Myopia 3, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:608474 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... |
OMIM:618195 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... |
ORPHA:891 |
| Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall... |
OMIM:613983 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
| Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... |
ORPHA:897 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
| Retinitis Punctata Albescens |
|
Photophobia, Central scotoma, Yellow/white lesions of the retina, Progressive night blindness, Cy... |
ORPHA:52427 |
| Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
| Exudative Vitreoretinopathy 4 |
|
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Reduced visual acu... |
OMIM:601813 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
| Atrial Standstill |
|
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... |
ORPHA:1344 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal bleeding, Abnormal hemoglobin |
ORPHA:90042 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... |
ORPHA:52901 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Tractional re... |
ORPHA:91495 |
| Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a... |
OMIM:615147 |
| Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... |
OMIM:600132 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... |
OMIM:228300 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Cone-Rod Dystrophy 10 |
|
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... |
OMIM:610283 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... |
ORPHA:79434 |
| Myopia 28, Autosomal Recessive |
|
High myopia, Retinal detachment |
OMIM:619781 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... |
ORPHA:364055 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Spl... |
ORPHA:464329 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ... |
OMIM:210370 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... |
OMIM:193220 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp... |
ORPHA:79432 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
| Retinitis Pigmentosa 72 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... |
OMIM:616469 |
| Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... |
OMIM:615842 |
| Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Photophobia, Dyschromatopsia, Macular degeneration, Hemeralopia, Retinal atrophy, Visual impairment |
OMIM:617236 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... |
ORPHA:5 |
| Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:615233 |
| Leber Congenital Amaurosis 15 |
|
Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral... |
OMIM:613843 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... |
OMIM:617547 |
| Eales Disease |
|
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Rhegmatogenous... |
ORPHA:40923 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... |
ORPHA:99827 |
| Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:617023 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... |
ORPHA:464321 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia |
ORPHA:48 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Pigmentary retinopathy |
ORPHA:370968 |
| Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:605231 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina |
ORPHA:100996 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... |
OMIM:609033 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Leukopenia, Subco... |
ORPHA:319213 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... |
ORPHA:340 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... |
OMIM:615986 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the skin, Thrombocytopen... |
OMIM:617718 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia |
OMIM:620422 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... |
ORPHA:448237 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper... |
ORPHA:2481 |
| Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T... |
OMIM:619649 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... |
OMIM:616959 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Vitreous floaters, Visual impairment, Retinal pigment epitheli... |
OMIM:605808 |
| Cone-Rod Dystrophy 6 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... |
OMIM:601777 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
| Retinitis Pigmentosa |
|
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... |
ORPHA:791 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Pigmentary retinopathy |
OMIM:613156 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy |
ORPHA:216866 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... |
OMIM:616501 |
| Uveal Melanoma |
|
Retinal detachment, Vitreous hemorrhage |
ORPHA:39044 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
| Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
OMIM:616562 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcy... |
ORPHA:848 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:300578 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Anemia, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly |
ORPHA:294 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy |
ORPHA:79264 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage |
OMIM:611773 |
| Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
| Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Neutrophilia in presence o... |
ORPHA:99826 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
| Bardet-Biedl Syndrome 17 |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... |
OMIM:615994 |
| Vici Syndrome |
|
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:1493 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... |
ORPHA:2715 |
| Heart Block, Congenital |
|
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... |
OMIM:234700 |
| Retinoblastoma |
|
Retinal calcification, Subretinal pigment epithelium hemorrhage, Hyphema, Abnormality of retinal ... |
ORPHA:790 |
| Pseudoxanthoma Elasticum |
|
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Optic disc drusen, Macula... |
OMIM:264800 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:268315 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Atelis Syndrome 2 |
|
Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosi... |
OMIM:620185 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
| Joubert Syndrome 8 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:612291 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy |
OMIM:560000 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen... |
ORPHA:88628 |
| Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction |
ORPHA:585 |
| Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma |
OMIM:615113 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Thrombocytopenia, Subconjunctival hem... |
ORPHA:509 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Sickle Cell Anemia |
|
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... |
ORPHA:232 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
| Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma |
ORPHA:2510 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... |
ORPHA:85167 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Pigmentary retinopathy, Retinal dysplasia |
OMIM:613154 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic atrophy, Optic disc pallor, Pigmentary retinopathy |
OMIM:617282 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy |
OMIM:610651 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia |
ORPHA:464453 |
| Cohen Syndrome |
|
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... |
OMIM:216550 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M... |
ORPHA:1969 |
| Aceruloplasminemia |
|
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation |
ORPHA:48818 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Optic nerve aplasia, Chorioretinal coloboma, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... |
OMIM:612561 |
| Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
| Waldenström Macroglobulinemia |
|
Congestive heart failure, Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gi... |
ORPHA:33226 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Pulmonary arterial hy... |
ORPHA:231222 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
| Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Macular degeneration, Retinal hemorrhage, Cerebral ... |
OMIM:177850 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Retinal pi... |
OMIM:618733 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... |
OMIM:192315 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Splenic cyst, Retinal detachment, Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrhag... |
OMIM:620371 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots |
OMIM:214110 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ... |
ORPHA:157850 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
| Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis, Tractional retinal detachment |
ORPHA:209959 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Bruising susceptibility |
ORPHA:98791 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
| Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock |
ORPHA:902 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:96180 |
| Cohen Syndrome |
|
Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin... |
ORPHA:193 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy |
OMIM:240300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:220110 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Coffin-Lowry Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:192 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor... |
ORPHA:2526 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:394 |
| Aicardi Syndrome |
|
Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme... |
ORPHA:50 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Congenital Primary Aphakia |
|
Retinal detachment, Optic disc coloboma, Retinal dysplasia |
ORPHA:83461 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... |
ORPHA:758 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor... |
OMIM:209900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
| Rift Valley Fever |
|
Hematemesis, Abnormal bleeding, Anemia, Melena, Gingival bleeding, Retinal hemorrhage, Thrombocyt... |
ORPHA:319251 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe... |
ORPHA:90321 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, Increased mean ... |
OMIM:617052 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Decreased distal sensory nerve action potential, Abnormality of peripheral somatosensory evoked p... |
ORPHA:466768 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Pigmentary retinopathy, Brushfield spots |
OMIM:214100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Retinal degeneration, Pigme... |
ORPHA:79282 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro... |
ORPHA:2556 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... |
ORPHA:580 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Retinal hemorrhage |
OMIM:608710 |
| Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Hypopigmentation of hair, Hypopigmentation of the skin, Larg... |
ORPHA:167 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Brushfield spots, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614866 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
| Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy |
ORPHA:14 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... |
ORPHA:227 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:255210 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Normochromic anemia, Papilledema, Abnormality of retinal p... |
ORPHA:91500 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to growth hormone s... |
ORPHA:3464 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Cockayne Syndrome |
|
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Retinal atrophy, Pigmentar... |
ORPHA:191 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon |
ORPHA:175 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin |
OMIM:234200 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot... |
OMIM:216400 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling |
OMIM:607459 |
| Melas |
|
Optic atrophy, Vitiligo, Pigmentary retinopathy |
ORPHA:550 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... |
ORPHA:217085 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
| Pierson Syndrome |
|
Posterior lenticonus, Retinal detachment, Hypertension, Remnants of the hyaloid vascular system, ... |
OMIM:609049 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:581 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... |
ORPHA:217093 |
| Nijmegen Breakage Syndrome |
|
Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo |
OMIM:251260 |
| Lead Poisoning |
|
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Retinal detachment, Cerebral ischemia, Pulmonary arterial hypertension,... |
ORPHA:464 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Asplenia, Hyphema, Retinal coloboma, Pulmonic stenosis, Aortic valve stenosis, Iri... |
ORPHA:261552 |
| Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy |
OMIM:203800 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Pigmentary retinopathy |
ORPHA:404454 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis... |
ORPHA:636 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy |
OMIM:309801 |
| Incontinentia Pigmenti |
|
Optic atrophy, Retinal detachment, Leukocytosis, Retinal hemorrhage, Eosinophilia |
OMIM:308300 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... |
OMIM:105650 |
| Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormal... |
OMIM:133540 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Retinal atrophy, Cardiomyopathy, Retinal hemorrhage, Splenomegaly, Reti... |
ORPHA:90324 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial m... |
OMIM:219800 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| Atypical Werner Syndrome |
|
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Patchy hypo- and ... |
ORPHA:79474 |
| Alagille Syndrome 1 |
|
Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:118450 |
| Pearson Syndrome |
|
Cafe-au-lait spot, Pigmentary retinopathy, Hyperpigmentation of the skin |
ORPHA:699 |
| Proteus Syndrome |
|
Retinal hamartoma, Irregular hyperpigmentation, Retinal nonattachment, Multiple cafe-au-lait spot... |
ORPHA:744 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Retinal hemorrhage |
ORPHA:79098 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Optic pit |
OMIM:616428 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pigmentary retinopathy |
OMIM:606721 |
| Alkaptonuria |
|
Myocardial infarction, Hypertension, Aortic valve stenosis, Mitral stenosis, Mitral regurgitation... |
ORPHA:56 |
| Hardikar Syndrome |
|
Pigmentary retinopathy |
OMIM:301068 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... |
ORPHA:391665 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Peripapillary atrophy, Cerebral ... |
OMIM:175780 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Aortic valve stenosis, Pulmonic sten... |
OMIM:300166 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Holoprosencephaly 2 |
|
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Pigmentary retinopathy |
ORPHA:3455 |
| Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
| Generalized Arterial Calcification Of Infancy |
|
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo... |
ORPHA:51608 |
| Norrie Disease |
|
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:649 |
