| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Cone-Rod Dystrophy 7 |
|
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... |
OMIM:603649 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... |
OMIM:136550 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Best Vitelliform Macular Dystrophy |
|
Color vision defect, Cystoid macular degeneration, Metamorphopsia, Choroideremia, Visual field de... |
ORPHA:1243 |
| Macular Dystrophy, Retinal, 2 |
|
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... |
OMIM:608051 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Sub-RPE de... |
OMIM:605670 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar |
OMIM:615439 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Visual impairment, Rod-cone dystrophy |
OMIM:613827 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Central Areolar Choroidal Dystrophy |
|
Slow decrease in visual acuity, Dyschromatopsia, Retinal pigment epithelial mottling, Hypopigment... |
ORPHA:75377 |
| Choroideremia |
|
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... |
OMIM:303100 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
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 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:231393 |
| Retinitis Pigmentosa 73 |
|
Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb... |
OMIM:616544 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Retinal Cone Dystrophy 1 |
|
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration, Progr... |
OMIM:180020 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment, Peripheral cystoi... |
OMIM:312700 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Bothnia Retinal Dystrophy |
|
Large central visual field defect, Color vision defect, Pigmentary retinopathy, Macular degenerat... |
ORPHA:85128 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Reduced visual acuity, Macular degeneration |
OMIM:616118 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... |
OMIM:608161 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| 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 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... |
OMIM:605750 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Stargardt Disease |
|
Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e... |
ORPHA:827 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Cone-Rod Dystrophy 24 |
|
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... |
OMIM:620342 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Blind-spot enlargment, Retinal t... |
ORPHA:179 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
| Cone-Rod Dystrophy 5 |
|
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... |
OMIM:600977 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment |
OMIM:600790 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Macular Dystrophy, Patterned, 1 |
|
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Redu... |
OMIM:169150 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Vitelliform-like macular lesions, Color vision defect, Abnormality of vision, Retinal nonattachme... |
ORPHA:99000 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Bietti Crystalline Dystrophy |
|
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... |
ORPHA:41751 |
| Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... |
OMIM:613428 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia |
OMIM:258500 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Cone-Rod Dystrophy 13 |
|
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... |
OMIM:608194 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Paracentral scotoma, Per... |
OMIM:609021 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Macular Degeneration, Atrophic, X-Linked |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... |
OMIM:600138 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Retinitis Pigmentosa 68 |
|
Visual field defect, Reduced visual acuity, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:615725 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, 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 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
| Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... |
OMIM:613310 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
| Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
| Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... |
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, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... |
OMIM:304020 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| 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 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... |
OMIM:613194 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Color vision defect, Abnormality of macular pigmentation, Central scotoma, Cone/cone-rod dystroph... |
OMIM:300476 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
| Cone-Rod Dystrophy 15 |
|
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... |
OMIM:613660 |
| Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
| Newfoundland Rod-Cone Dystrophy |
|
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Bone spicule pigmentation o... |
OMIM:607476 |
| Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... |
OMIM:616188 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... |
ORPHA:209943 |
| Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Nyc... |
OMIM:613862 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality of skin p... |
OMIM:251270 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
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, Progressive visual loss, Nyctalopia, ... |
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 |
|
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... |
OMIM:610381 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Retinitis Pigmentosa 19 |
|
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... |
OMIM:601718 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
| Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy |
OMIM:312612 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... |
ORPHA:506353 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... |
OMIM:618433 |
| Optic Atrophy 5 |
|
Slow decrease in visual acuity, Optic atrophy, Constriction of peripheral visual field, Abnormali... |
OMIM:610708 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... |
OMIM:618697 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... |
OMIM:264420 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Cone-Rod Dystrophy 2 |
|
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... |
OMIM:120970 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:616108 |
| Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... |
OMIM:204100 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... |
OMIM:613835 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... |
ORPHA:88 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Retinitis Pigmentosa 3 |
|
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... |
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 |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... |
OMIM:267760 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... |
OMIM:608850 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... |
OMIM:614292 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Hemiano... |
ORPHA:284454 |
| Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... |
OMIM:312600 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
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, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
| Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen |
OMIM:204000 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... |
OMIM:145350 |
| Retinitis Pigmentosa 83 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... |
OMIM:618173 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... |
ORPHA:816 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Cone-Rod Dystrophy 8 |
|
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... |
OMIM:605549 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... |
OMIM:620103 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... |
OMIM:133780 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
| Retinitis Pigmentosa 23 |
|
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... |
OMIM:300424 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
| Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
| Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| 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 |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... |
OMIM:618195 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Familial Exudative Vitreoretinopathy |
|
Falciform retinal fold, Macular edema, Vitreoretinopathy, Subretinal fluid, Blindness, Epiretinal... |
ORPHA:891 |
| Retinitis Pigmentosa 60 |
|
Constriction of peripheral visual field, Peripheral visual field loss, Attenuation of retinal blo... |
OMIM:613983 |
| 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 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
| Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... |
ORPHA:52427 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Exudative Vitreoretinopathy 4 |
|
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Blindness, Tractiona... |
OMIM:601813 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal bleeding, Polycythemia, 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, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... |
ORPHA:52901 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme... |
ORPHA:91495 |
| Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... |
OMIM:600132 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Retinal dystrophy, Tritanomaly, Vi... |
OMIM:615147 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
| Cone-Rod Dystrophy 10 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... |
ORPHA:79434 |
| Myopia 28, Autosomal Recessive |
|
High myopia, Retinal detachment |
OMIM:619781 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation |
ORPHA:1433 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymos... |
ORPHA:464329 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... |
OMIM:210370 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
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 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Retinitis Pigmentosa 72 |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
| Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
| Spermatogenic Failure 14 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615842 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia |
OMIM:617236 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... |
ORPHA:5 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Leber Congenital Amaurosis 15 |
|
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... |
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 |
|
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Tra... |
ORPHA:40923 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Neutrophilia, Tachycardia, Purpura, Diffuse alveolar hemorrhage,... |
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 |
|
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... |
ORPHA:846 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... |
ORPHA:464321 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis |
ORPHA:163596 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:609033 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Hyphema, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipunctur... |
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 |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Petechiae,... |
ORPHA:340 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615986 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Hematochezia, Lymphocytosis, Thrombocytopenia, Vascul... |
OMIM:617718 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... |
OMIM:300257 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Reduced visual acuity, Amblyopia, Rod-cone dystrophy, Nyctalopia |
OMIM:620422 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Anemia of inadeq... |
ORPHA:86839 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
| Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Neurocutaneous Melanocytosis |
|
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... |
ORPHA:2481 |
| Chromosome 16Q12 Duplication Syndrome |
|
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... |
OMIM:619649 |
| Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Abnormality of retinal pigmentation |
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 |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
| Birdshot Chorioretinopathy |
|
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... |
OMIM:605808 |
| Cone-Rod Dystrophy 6 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... |
OMIM:601777 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
| Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
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 |
|
Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
| Uveal Melanoma |
|
Vitreous hemorrhage, Retinal detachment |
ORPHA:39044 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... |
ORPHA:848 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:300578 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Retinal hemorrhage, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:294 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia |
OMIM:611773 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Hyphema |
ORPHA:158000 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Abnormal bleeding... |
ORPHA:99826 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... |
OMIM:615994 |
| Vici Syndrome |
|
Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula... |
ORPHA:1493 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of r... |
ORPHA:2715 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Retinoblastoma |
|
Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Vitreous ... |
ORPHA:790 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Macular degeneration, Congestive heart f... |
OMIM:264800 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Supravalv... |
OMIM:620185 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of ... |
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 |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
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 |
| Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... |
ORPHA:509 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma |
OMIM:615113 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
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, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia, Pigmentary retinopathy |
OMIM:613154 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy |
OMIM:617282 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
| Acquired Methemoglobinemia |
|
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling |
OMIM:610651 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ... |
OMIM:216550 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... |
ORPHA:1969 |
| Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
| Retinoblastoma |
|
Leukemia, Vitreous hemorrhage, Retinal calcification |
OMIM:180200 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congest... |
ORPHA:33226 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
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, Macular degeneration, Angina pectoris, Cerebral hemorrhage, Retinal ... |
OMIM:177850 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti... |
OMIM:618733 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... |
OMIM:192315 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Tricuspid regurgitation, Splenic cyst, Vitreous hemorrhage, Retinal detachment, Cerebral hemorrha... |
OMIM:620371 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia |
OMIM:214110 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati... |
ORPHA:157850 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Tractional retinal detachment, Hyphema |
ORPHA:209959 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Bruising susceptibility, HbH hemoglobin |
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 |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231214 |
| Werner Syndrome |
|
White forelock, Abnormality of retinal pigmentation, Premature graying of hair |
ORPHA:902 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ... |
ORPHA:193 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Pigmentary retinopathy, Vitiligo, Perifoveal ring of hyperautofluorescence |
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, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,... |
ORPHA:2526 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:394 |
| Aicardi Syndrome |
|
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... |
ORPHA:50 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Congenital Primary Aphakia |
|
Retinal dysplasia, Retinal detachment, Optic disc coloboma |
ORPHA:83461 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris... |
ORPHA:758 |
| Bardet-Biedl Syndrome 1 |
|
Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:209900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
| Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Retinal hemorrhage, Hematemesis, Thrombocytopenia, Melena, ... |
ORPHA:319251 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Absent brainst... |
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, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci... |
ORPHA:466768 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Pigmentary retinopathy, Brushfield spots |
OMIM:214100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... |
ORPHA:79282 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo... |
ORPHA:2556 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Granulomatosis |
OMIM:608710 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat... |
ORPHA:580 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... |
ORPHA:167 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Pigmentary retinopathy, Optic nerve dysplasia, Rod-cone dystrophy, Brushfield spots |
OMIM:614866 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
| Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy |
ORPHA:14 |
| Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... |
ORPHA:227 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:255210 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Abnormality of retinal pigmentation, Vitreous hemorrhage, ... |
ORPHA:91500 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... |
ORPHA:3464 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Cockayne Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio... |
ORPHA:191 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Abnormality of retinal pigmentation |
ORPHA:175 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration |
OMIM:234200 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
| Cockayne Syndrome A |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... |
OMIM:216400 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling |
OMIM:607459 |
| Melas |
|
Optic atrophy, Pigmentary retinopathy, Vitiligo |
ORPHA:550 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... |
ORPHA:217085 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration |
ORPHA:581 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... |
ORPHA:217093 |
| Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling |
OMIM:251260 |
| Lead Poisoning |
|
Anemia, Hypertension, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Cerebral ischemia, Eosinophilia, Telangiectasia of the skin, Pulmonary ... |
ORPHA:464 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Optic atrophy, Hyphema, Retinal coloboma, Asplenia, Iris coloboma, Pulmoni... |
ORPHA:261552 |
| Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Alstrom Syndrome |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy |
OMIM:203800 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
| Cancer-Associated Retinopathy |
|
Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app... |
ORPHA:71505 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy, Cone/cone-rod dystrophy |
ORPHA:404454 |
| Neurofibromatosis Type 1 |
|
Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera... |
ORPHA:636 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy |
OMIM:309801 |
| Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Eosinophilia, Retinal detachment, Retinal hemorrhage |
OMIM:308300 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Optic atrophy, Abnormal hemoglobin |
ORPHA:847 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Decreased nerve condu... |
OMIM:133540 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Splenomegaly, Retinal degeneration, Retinal atrophy, Retinal... |
ORPHA:90324 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Retino... |
OMIM:219800 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
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, Retinal degenerat... |
ORPHA:79474 |
| Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
| Pearson Syndrome |
|
Pigmentary retinopathy, Hyperpigmentation of the skin, Cafe-au-lait spot |
ORPHA:699 |
| Proteus Syndrome |
|
Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia... |
ORPHA:744 |
| Sympathetic Ophthalmia |
|
Retinal hemorrhage, Papilledema, Retinal detachment |
ORPHA:79098 |
| Microphthalmia/Coloboma 10 |
|
Optic pit, Chorioretinal coloboma |
OMIM:616428 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
| Alkaptonuria |
|
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Hypertension, Methemoglobinemia, He... |
ORPHA:56 |
| Hardikar Syndrome |
|
Pigmentary retinopathy |
OMIM:301068 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... |
ORPHA:391665 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Peripapillary atrophy, Corneal neovascularization, Cerebral hemorrhage, Retinal ... |
OMIM:175780 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma... |
OMIM:300166 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia |
ORPHA:3455 |
| Neuroocular Syndrome 1 |
|
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |
| Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... |
ORPHA:51608 |
| Norrie Disease |
|
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:649 |
