Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis |
OMIM:608890 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris tran... |
OMIM:619165 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Persistent Placoid Maculopathy |
|
Retinal pigment epithelial mottling, Choroidal neovascularization, Abnormal macular morphology, H... |
ORPHA:97341 |
Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... |
OMIM:193510 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Loose Anagen Syndrome |
|
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... |
ORPHA:1433 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Urocanase Deficiency |
|
Fair hair, Blue irides |
OMIM:276880 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Woolly Hair |
|
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... |
ORPHA:170 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus |
OMIM:606952 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... |
OMIM:601706 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Retinal degeneration, Alopecia, Pigmentary retinopathy, Long eyelashes, Long eyebrow... |
OMIM:275400 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair |
ORPHA:79476 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Eem Syndrome |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Retinop... |
ORPHA:1897 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, Abnormal morphol... |
ORPHA:352731 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... |
ORPHA:897 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair |
ORPHA:1264 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Achromatopsia |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuati... |
ORPHA:49382 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... |
ORPHA:999 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Piebaldism |
|
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... |
ORPHA:2884 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Iris h... |
ORPHA:54 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... |
OMIM:148820 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Astigmatism, Albinism, Absent skin pigmen... |
OMIM:203100 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Phenylketonuria |
|
Cataract, Blue irides, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Hypoplasia o... |
OMIM:611584 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... |
ORPHA:3214 |
Hermansky-Pudlak Syndrome 11 |
|
Ocular albinism, Fair hair, Albinism, Iris transillumination defect, Melanocytic nevus |
OMIM:619172 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract |
ORPHA:67048 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology |
ORPHA:2786 |
Joubert Syndrome 28 |
|
Optic disc pallor, Highly arched eyebrow, Pigmentary retinopathy |
OMIM:617121 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Fingernail dysplasia |
ORPHA:1259 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610283 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:616278 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom... |
ORPHA:1390 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy |
OMIM:268100 |
Ramon Syndrome |
|
Generalized hirsutism, Abnormality of retinal pigmentation |
ORPHA:3019 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Mental Retardation, Buenos Aires Type |
|
Fair hair, Blue irides, Curly eyelashes, Hyperconvex thumb nails, Long eyelashes |
OMIM:249630 |
Edinburgh Malformation Syndrome |
|
Generalized hirsutism, Hirsutism, Synophrys, Brushfield spots, Low posterior hairline |
ORPHA:1895 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... |
ORPHA:766 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Silver-gray hair, Iris hypopigmentation, Abnormal eyelash morphology... |
ORPHA:381 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Retinal detachment, Abnormal eyelash mo... |
ORPHA:3437 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Thick eyebrow, Blue irides, Partial albinism, White eyebrow, White eyela... |
OMIM:193500 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Congenital Microcoria |
|
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... |
ORPHA:566 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Narp Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... |
ORPHA:644 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:791 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... |
OMIM:120970 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Hermansky-Pudlak Syndrome 5 |
|
Albinism, Ocular albinism, Iris transillumination defect |
OMIM:614074 |
Juvenile Paget Disease |
|
Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2801 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple |
ORPHA:1173 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Hypertrichosis, Pigmentary retinopathy |
ORPHA:255241 |
Neurocutaneous Melanocytosis |
|
Generalized hirsutism, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi,... |
ORPHA:2481 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation, Cataract, White hair |
ORPHA:2720 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Pi... |
ORPHA:284454 |
Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Cataract, Low... |
ORPHA:85194 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Microcornea, Iris colo... |
ORPHA:1791 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Juvenile Xanthogranuloma |
|
Iritis, Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... |
ORPHA:5 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Cone-Rod Dystrophy 6 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... |
OMIM:601777 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:609033 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy |
OMIM:268020 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation |
ORPHA:834 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Early balding, Frontal balding, Blue irides |
ORPHA:3041 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Leigh Syndrome |
|
Optic atrophy, Hypertrichosis, Pigmentary retinopathy |
OMIM:256000 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Noonan Syndrome 13 |
|
Hypertrichosis, Generalized hirsutism, Blue irides, Broad eyebrow, Multiple lentigines, Cafe-au-l... |
OMIM:619087 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation |
ORPHA:2518 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411511 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Autosomal Dominant Hypocalcemia |
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Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Zika Virus Disease |
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Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Hypermanganesemia With Dystonia 1 |
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Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158057 |
Acrofrontofacionasal Dysostosis |
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Aplasia/Hypoplasia of the eyebrow, Anonychia, Hypopigmented skin patches, Brushfield spots |
ORPHA:1784 |
Late-Onset Retinal Degeneration |
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Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... |
ORPHA:67042 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
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Pigmentary retinopathy |
OMIM:619059 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Retinal pigment epithelial mottling |
OMIM:619517 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... |
OMIM:616860 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Hyperbilirubinemia |
OMIM:235700 |
Pseudohypoparathyroidism Type 1C |
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Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Infantile Sialic Acid Storage Disease |
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Conjugated hyperbilirubinemia |
OMIM:269920 |
Desmoid Tumor |
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Abnormality of retinal pigmentation |
ORPHA:873 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
ORPHA:234 |
Oculocutaneous Albinism Type 5 |
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Ocular albinism |
ORPHA:370091 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
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Pigmentary retinopathy |
ORPHA:329336 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Increased total bilirubin |
ORPHA:90037 |
Fanconi Renotubular Syndrome 2 |
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Hypophosphatemia |
OMIM:613388 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hyperbilirubinemia |
OMIM:235555 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hyperphosphatemia |
OMIM:101800 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Conjugated hyperbilirubinemia |
OMIM:619484 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Mucolipidosis Type Iv |
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Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Arthrogryposis, Distal, Type 5 |
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Abnormality of retinal pigmentation |
OMIM:108145 |
Hermansky-Pudlak Syndrome 4 |
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Albinism, Ocular albinism |
OMIM:614073 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia |
ORPHA:79303 |
Joubert Syndrome 3 |
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Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Hermansky-Pudlak Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Astigmatism, Partial alb... |
ORPHA:79430 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Corneal opacity, Choroideremia, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation,... |
ORPHA:2719 |
Chediak-Higashi Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... |
OMIM:214500 |
Prolidase Deficiency |
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Hirsutism, Low anterior hairline, Abnormality of retinal pigmentation, Generalized hirsutism, Abn... |
ORPHA:742 |
Aortic Aneurysm, Familial Thoracic 4 |
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Abnormal iris pigmentation |
OMIM:132900 |
Vici Syndrome |
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Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal pigmentation, Abnormal macula... |
ORPHA:1493 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
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Pigmentary retinopathy |
OMIM:613156 |
Ataxia With Vitamin E Deficiency |
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Abnormality of retinal pigmentation |
ORPHA:96 |
Congenital Rubella Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:290 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Usher Syndrome Type 2 |
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Iris hypopigmentation, Cataract |
ORPHA:231178 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hyperbilirubinemia |
ORPHA:713 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hyperbilirubinemia |
OMIM:616689 |
Angelman Syndrome |
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Hypopigmentation of the skin, Fair hair, Blue irides |
OMIM:105830 |
Chromosome Xp11.3 Deletion Syndrome |
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Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:300578 |
Multiple Sulfatase Deficiency |
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Optic atrophy, Coarse hair, Abnormality of retinal pigmentation, Thick eyebrow |
ORPHA:585 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Hyperbilirubinemia |