Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis |
OMIM:103500 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
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, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... |
OMIM:619165 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... |
OMIM:618697 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... |
OMIM:193510 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Woolly Hair Nevus |
|
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... |
ORPHA:79414 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma |
ORPHA:168 |
Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia |
OMIM:237450 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina |
OMIM:172870 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:606068 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abn... |
ORPHA:1433 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Woolly Hair |
|
Cataract, Sparse body hair, Fine hair, Abnormal pupil morphology, Brittle hair, Abnormality of ha... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:203200 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... |
OMIM:225200 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Hypopigmentation of the fundus |
OMIM:606952 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal col... |
OMIM:601706 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... |
ORPHA:79435 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Central heterochromia, Pigmentary retinopathy, Alopecia, Retinal degeneration, Lo... |
OMIM:275400 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair |
ORPHA:79476 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Neonatal hyperbilirubinemia |
OMIM:129850 |
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 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... |
ORPHA:352731 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... |
OMIM:617460 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Eem Syndrome |
|
Sparse body hair, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystrophy, Retinop... |
ORPHA:1897 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... |
ORPHA:1067 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:618613 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... |
OMIM:251270 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Heimler Syndrome 1 |
|
Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy |
OMIM:234580 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Abnormal eyebrow morphology, Synophrys, Premature graying of hair, A... |
ORPHA:897 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:35737 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... |
ORPHA:79432 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair, Abnormality of retinal pigmentation |
ORPHA:1264 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Oculocutaneous Albinism |
|
Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Generalized hypopigmentation ... |
ORPHA:55 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... |
ORPHA:999 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:180100 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... |
OMIM:612095 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... |
OMIM:613835 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177910 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... |
OMIM:604116 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:616108 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... |
ORPHA:79434 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:613756 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Piebaldism |
|
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
X-Linked Recessive Ocular Albinism |
|
Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Giant melanosomes in me... |
ORPHA:54 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613266 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Retinitis Pigmentosa 83 |
|
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... |
OMIM:618173 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:600105 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Hypopigmented skin patches, Synophrys, Premature graying of hair, Partial albinism, ... |
OMIM:148820 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613617 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Astigmatism, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent... |
OMIM:203100 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613810 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... |
OMIM:312600 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a... |
OMIM:611584 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Phenylketonuria |
|
Blue irides, Cataract, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Oculocutaneous Albinism Type 1A |
|
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... |
ORPHA:79431 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... |
ORPHA:3214 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation |
OMIM:113750 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:602772 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... |
OMIM:145350 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Fair hair, Iris transillumination defect, Melanocytic nevus |
OMIM:619172 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... |
OMIM:605549 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... |
ORPHA:894 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:607624 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair, Brittle hair |
OMIM:617252 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... |
OMIM:618195 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411515 |
Neuroectodermal Melanolysosomal Disease |
|
Aplasia/Hypoplasia of the macula, Premature graying of hair, Hypopigmentation of the skin, Hypopi... |
ORPHA:33445 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Joubert Syndrome 28 |
|
Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor |
OMIM:617121 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:300029 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Jalili Syndrome |
|
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... |
OMIM:217080 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels |
OMIM:204000 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Spinocerebellar Ataxia 7 |
|
Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79477 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Fingernail dysplasia, Abnormality of retinal pigmentation |
ORPHA:1259 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Synophrys, Heterochromia iridis, Abnormality of retinal pig... |
ORPHA:1390 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... |
OMIM:600132 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Pili canaliculi, Dry hair |
OMIM:191480 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Low posterior hairline, Hirsutism, Generalized hirsutism |
ORPHA:1895 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema |
OMIM:268100 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Retinitis Pigmentosa 72 |
|
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:616469 |
Ramon Syndrome |
|
Generalized hirsutism, Abnormality of retinal pigmentation |
ORPHA:3019 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:613983 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Griscelli Syndrome |
|
Iris hypopigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow ... |
ORPHA:381 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal hair quantity, Multiple cafe-au-lait spots, Hyperphosphatemia, Alopecia |
ORPHA:457059 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... |
ORPHA:3437 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615233 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Synophrys, Premature graying of hair, Hypoplastic iris stroma, Thick eyebrow, White ... |
OMIM:193500 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Red hair, Fair hair |
OMIM:614613 |
Congenital Microcoria |
|
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... |
ORPHA:566 |
Autosomal Dominant Hypocalcemia |
|
Irregular hyperpigmentation, Abnormality of the nail, Hyperphosphatemia, Alopecia, Abnormal finge... |
ORPHA:428 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
Retinitis Punctata Albescens |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... |
ORPHA:52427 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Hermansky-Pudlak Syndrome 8 |
|
Blue irides, Generalized hypopigmentation, Astigmatism, Albinism, Ocular albinism, Silver-gray ha... |
OMIM:614077 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617547 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Biliary Atresia, Extrahepatic |
|
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Narp Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... |
ORPHA:644 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair, Conjugated hyperbilirubinemia |
OMIM:269920 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:791 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti... |
OMIM:120970 |
Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
Neurocutaneous Melanocytosis |
|
Numerous congenital melanocytic nevi, Generalized hirsutism, Abnormality of retinal pigmentation,... |
ORPHA:2481 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Iris hypopigmentation, Generalized hypopigmentation, White hair, Ocular albinism |
ORPHA:2720 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrichosis, Pigmentary retinopathy, Optic atrophy |
ORPHA:255241 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hyperpigmentation of the skin, Neonatal hyperbiliru... |
OMIM:618892 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Synophrys, He... |
ORPHA:3440 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Iris coloboma, Absent inner eyelashes, Limbal dermoid, Aplasia/Hypopl... |
ORPHA:1791 |
Spondylo-Ocular Syndrome |
|
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp... |
ORPHA:85194 |
Albinism, Ocular, Type I |
|
Ocular albinism, Giant melanosomes in melanocytes |
OMIM:300500 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Tonne-Kalscheuer Syndrome |
|
Blue irides, Fine hair, Concave nail, Small nail |
OMIM:300978 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98795 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... |
ORPHA:284454 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94089 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy |
OMIM:616562 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... |
OMIM:614300 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... |
ORPHA:5 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation, Iritis |
ORPHA:158000 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation |
ORPHA:834 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... |
ORPHA:94093 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia |
OMIM:301094 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation |
ORPHA:97229 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation |
OMIM:617306 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
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Blue irides, Early balding, Cafe-au-lait spot, Frontal balding |
ORPHA:3041 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Cone-Rod Dystrophy 6 |
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Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
Neonatal Adrenoleukodystrophy |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Oculopharyngodistal Myopathy 3 |
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Pigmentary retinopathy |
OMIM:619473 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of retinal blood ves... |
OMIM:609033 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Bachmann-Bupp Syndrome |
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Small nail, Hyperbilirubinemia, Absent eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:619075 |
Autosomal Recessive Spastic Paraplegia Type 15 |
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Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks |
ORPHA:100996 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Blue irides, Hyperphosphatemia, Melanocytic nevus |
OMIM:101800 |
Noonan Syndrome 13 |
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Blue irides, Multiple lentigines, Low posterior hairline, Cafe-au-lait spot, Broad eyebrow, Highl... |
OMIM:619087 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411511 |
Jeune Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:474 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Pigmentary retinopathy |
ORPHA:370968 |
Malignant Hyperthermia Of Anesthesia |
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Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:423 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
Leigh Syndrome |
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Hypertrichosis, Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Linear Verrucous Nevus Syndrome |
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Hypophosphatemia, Sparse scalp hair |
ORPHA:2611 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:3085 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1496 |
Bardet-Biedl Syndrome 9 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:615986 |
Acrofrontofacionasal Dysostosis |
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Brushfield spots, Anonychia, Aplasia/Hypoplasia of the eyebrow, Hypopigmented skin patches |
ORPHA:1784 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation |
ORPHA:2518 |
Dent Disease 2 |
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Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Pseudohypoparathyroidism Type 1C |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79444 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia |
OMIM:612653 |
Late-Onset Retinal Degeneration |
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Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... |
ORPHA:67042 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Zika Virus Disease |
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Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... |
ORPHA:448237 |
Oculocutaneous Albinism Type 5 |
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Ocular albinism |
ORPHA:370091 |
Congenital Dyserythropoietic Anemia Type Iii |
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Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
Cln3 Disease |
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Pigmentary retinopathy, Hirsutism, Bull's eye maculopathy, Optic atrophy |
ORPHA:228346 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
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Pigmentary retinopathy |
ORPHA:329336 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
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Pigmentary retinopathy |
OMIM:619059 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
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Blue irides, Hyperphosphatemia, Red hair, Fair hair, Hypocalcemia |
ORPHA:280651 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Conjugated hyperbilirubinemia |
OMIM:605479 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Desmoid Tumor |
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Abnormality of retinal pigmentation |
ORPHA:873 |
Hermansky-Pudlak Syndrome 4 |
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Ocular albinism, Albinism |
OMIM:614073 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia |
OMIM:301083 |
Arthrogryposis, Distal, Type 5 |
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Retinal fold, Abnormality of retinal pigmentation |
OMIM:108145 |
Aortic Aneurysm, Familial Thoracic 4 |
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Abnormal iris pigmentation |
OMIM:132900 |
Usher Syndrome Type 2 |
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Cataract, Iris hypopigmentation |
ORPHA:231178 |
Hermansky-Pudlak Syndrome |
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Cataract, Iris hypopigmentation, Long eyelashes, Astigmatism, Hypopigmentation of the skin, Hypop... |
ORPHA:79430 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... |
OMIM:616860 |
Idiopathic Congenital Hypothyroidism |
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Neonatal hyperbilirubinemia |
ORPHA:95717 |
Rh-Null, Regulator Type |
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Unconjugated hyperbilirubinemia |
OMIM:268150 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Cataract, Iris hypopigmentation, Choroideremia, Hypopigmentation of hair, Ocular albinism, Cornea... |
ORPHA:2719 |
Mucolipidosis Type Iv |
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Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Chediak-Higashi Syndrome |
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Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... |
OMIM:214500 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Retinal pigment epithelial mottling |
OMIM:619517 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Pseudohypoparathyroidism Type 1A |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79443 |
Spherocytosis, Type 1 |
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Hyperbilirubinemia |
OMIM:182900 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Hypermanganesemia With Dystonia 1 |
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Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia |
OMIM:613280 |
Deafness-Hypogonadism Syndrome |
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Heterochromia iridis |
ORPHA:90646 |
Chromosome Xp11.3 Deletion Syndrome |
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