Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure |
OMIM:620086 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het... |
OMIM:103500 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Aniridia 1 |
|
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal n... |
OMIM:106210 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Generalized hyperpigmentation, Optic atrophy |
ORPHA:2253 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia |
ORPHA:99000 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation, Abnormal foveal morphology on macul... |
ORPHA:370097 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy |
OMIM:300719 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... |
OMIM:619165 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Long eyebrows, Hypoplasia of penis, Long eyelashes, ... |
OMIM:275400 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis, Telecanthus |
OMIM:608890 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Corneal opacity, Pers... |
ORPHA:1067 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Woolly Hair |
|
Abnormal pupil morphology, Abnormal retinal morphology, Sparse lateral eyebrow, Hypopigmentation ... |
ORPHA:170 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Unilateral narrow palpebral fissure, Optic atrophy, Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Horner Syndrome, Congenital |
|
Heterochromia iridis, Congenital Horner syndrome |
OMIM:143000 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Coloboma, Epicanthus, Long eyelashes, Microcornea, Cataract, Hypospadias, Ectopi... |
OMIM:615877 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly |
ORPHA:79281 |
Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Depigmented fundus, Generalized hypopigmentation of hair, Iris hyp... |
ORPHA:352731 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Hypertension, Ptosis, Tremor... |
ORPHA:97229 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Iris hypopigmentation, Cataract, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigmentation, Ptosi... |
ORPHA:1390 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Progressive Hemifacial Atrophy |
|
Ptosis, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Macular atrophy, Abnormalit... |
ORPHA:85167 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Downslanted palpebral fissures, Cataract, Hepatomegaly, Epicanthus |
OMIM:614882 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Vitritis, Marcus Gunn pup... |
ORPHA:284454 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... |
OMIM:613265 |
Intermediate Uveitis |
|
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... |
ORPHA:279914 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Urinary retention, Mydriasis, Ptosis |
ORPHA:254509 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Hematuria, Ptosis, Cataract, Iris coloboma, Corneal opacity... |
ORPHA:1473 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Wound Botulism |
|
Cardiac arrest, Urinary retention, Mydriasis, Ptosis |
ORPHA:178475 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Renal insufficiency |
OMIM:615995 |
Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Giant melanosomes in melanocytes, Abnormal macular morphology, Ocular ... |
ORPHA:54 |
Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... |
ORPHA:101082 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Griscelli Syndrome Type 1 |
|
Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism |
ORPHA:79476 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Mydriasis, Optic atrophy, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly,... |
OMIM:259720 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uv... |
OMIM:617388 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Nephrolithiasis, Mydriasis, Megacystis |
OMIM:619365 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... |
OMIM:203200 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Distal Monosomy 6P |
|
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Hemolytic anemia, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage... |
OMIM:175780 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Irregular hyperpigmentation, Limbal de... |
ORPHA:2969 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... |
OMIM:277580 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Motor axonal neuropathy, Mydriasis |
ORPHA:247815 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Inhalational Botulism |
|
Urinary retention, Mydriasis, Ptosis |
ORPHA:254504 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Choreoathetosis, Corneal n... |
OMIM:278730 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Foodborne Botulism |
|
Ptosis, Urinary retention, Mydriasis, Arrhythmia |
ORPHA:228371 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Nephrotic syndrome, Iris hypopigmentation, Hepatomegaly, Protei... |
ORPHA:834 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Miosis |
OMIM:156850 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Aminoaciduria, Hypoplasia of the thymus, Epicanthus, Jau... |
OMIM:214110 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, Ptosis, White forel... |
ORPHA:895 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... |
ORPHA:381 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... |
ORPHA:79477 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Infant Botulism |
|
Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Ptosis |
ORPHA:178478 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... |
ORPHA:2119 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Cataract, Increased level of hippuric acid in urine, Blu... |
OMIM:261600 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Hypopigmented sk... |
ORPHA:2885 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
2Q24 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Cataract, Coloboma, Abnormality iris morphology |
ORPHA:1617 |
Cherubism |
|
Submandibular lymph node enlargement, Marcus Gunn pupil, Lower eyelid retraction, Macular scar, O... |
OMIM:118400 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... |
ORPHA:1791 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... |
ORPHA:79433 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Retinal detachment, Aplasia/Hypopla... |
ORPHA:85194 |
Botulism |
|
Urinary retention, Mydriasis, Arrhythmia |
ORPHA:1267 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... |
OMIM:601706 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Serotonin Syndrome |
|
Hypotension, Mydriasis, Acute kidney injury, Abnormality of the autonomic nervous system, Hyperte... |
ORPHA:43116 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Iris hypopigmentation, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnormal ... |
OMIM:214500 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash... |
ORPHA:79432 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Hematuria, Chorioretinal coloboma |
OMIM:120433 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Macular hypoplasi... |
ORPHA:91495 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma, Epicanthus |
ORPHA:2489 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ... |
OMIM:204200 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Sensory axonal neuropathy, Bilateral ptosis, Optic atrophy |
ORPHA:329314 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Blepharophimosis, Aganglionic megacolon, Synophrys, Hypopigmented skin... |
OMIM:148820 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Vesicoureteral reflux, Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, ... |
ORPHA:137902 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice, Galactosuria |
OMIM:230200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Hyperthreoninuria, Attenuation of retinal blood vessels, Cataract, Hepatomegal... |
OMIM:204000 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Methionine Malabsorption Syndrome |
|
White hair, Aminoaciduria, Blue irides |
OMIM:250900 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Optic Atrophy 2 |
|
Tremor, Optic atrophy |
OMIM:311050 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Zellweger Syndrome |
|
Brushfield spots, Multicystic kidney dysplasia, Posterior embryotoxon, Optic atrophy, Epicanthus,... |
ORPHA:912 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski... |
ORPHA:3214 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Pigmentary retinopathy, Nodular regenerative hyperplasia of liver, Lagophthalmos, Microvesicular ... |
ORPHA:404454 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Eales Disease |
|
Ischemic stroke, Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitr... |
ORPHA:40923 |
Triopia |
|
Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Iris coloboma |
ORPHA:3374 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Morm Syndrome |
|
Retinal dystrophy, Micropenis, Cataract, Retinal atrophy |
ORPHA:75858 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia, Stage 5 chronic kidney disease, Retinal degeneration, Renal corticomedu... |
OMIM:613550 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor |
OMIM:616171 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Epistaxis... |
OMIM:619172 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis |
OMIM:613834 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
Woolly Hair Nevus |
|
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane |
ORPHA:79414 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Aplasia of the thymus, Ectopia pupilla... |
OMIM:618223 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... |
OMIM:613154 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
Microphthalmia, Syndromic 13 |
|
Ptosis, Iris coloboma, Chorioretinal coloboma, Microcornea |
OMIM:300915 |
Spastic Ataxia 7, Autosomal Dominant |
|
Congenital miosis, Optic atrophy |
OMIM:108650 |
Albinism, Oculocutaneous, Type Vii |
|
Albinism, Iris transillumination defect |
OMIM:615179 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract... |
ORPHA:2719 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils,... |
ORPHA:2720 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Cataract, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Hematuria, Corneal neovascularization, Cataract, Eosinophilia, Opacificatio... |
OMIM:158310 |
Pituitary Apoplexy |
|
Hypotension, Mydriasis, Hypertension, Ptosis, Normochromic anemia |
ORPHA:95613 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Abnormal abdomen morphology, Corneal opacity, Opacification ... |
OMIM:252650 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Telangiectasia, Hypertension, Retinal detachment |
OMIM:219250 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Albinism, Absent platelet dense granules, Epistax... |
OMIM:614074 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentat... |
ORPHA:3156 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic nerve compression, Optic atrophy, Mydriasis, Epicanthus, Optic neuropathy |
OMIM:619727 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... |
OMIM:300476 |
Hermansky-Pudlak Syndrome 8 |
|
Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Epistaxis... |
OMIM:614077 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Downslanted palpebral fissures, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... |
ORPHA:98977 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Arachnoid Cyst |
|
Urinary incontinence, Cranial nerve compression, Mydriasis, Urinary bladder sphincter dysfunction... |
ORPHA:2356 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema |
ORPHA:1259 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract, Micropenis |
OMIM:610156 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis, Congenital stationary night blindness, Epicanthus |
ORPHA:90646 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Abnormality of the peritoneum, Hyperte... |
ORPHA:1764 |
Sturge-Weber Syndrome |
|
Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telan... |
ORPHA:3205 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Knobloch Syndrome 1 |
|
Horizontal eyebrow, Bifid ureter, Peripapillary atrophy, Iris transillumination defect, Epicanthu... |
OMIM:267750 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Mydriasis, Abnormal autonomic nervous system physiology, Thin eyebrow, Choreoath... |
ORPHA:2131 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Tonne-Kalscheuer Syndrome |
|
Downslanted palpebral fissures, Hypospadias, Tremor, Blue irides, Micropenis |
OMIM:300978 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Cataract, Epicanthus, Microcornea |
ORPHA:2528 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascul... |
OMIM:120200 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Cocaine Intoxication |
|
Hypotension, Tubulointerstitial nephritis, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemo... |
ORPHA:90068 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Epicanthus |
ORPHA:85288 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Abnormality of retinal pigmentation, Cataract, ... |
ORPHA:290 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cataract, Optic disc pallor |
ORPHA:3173 |
Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system... |
ORPHA:79138 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Waardenburg Syndrome, Type 2E |
|
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... |
OMIM:611584 |
Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Hypertrop... |
ORPHA:225 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the liver, Cataract, Tremor, Intention... |
OMIM:614307 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Congenital Microcoria |
|
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... |
ORPHA:566 |
Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplast... |
OMIM:193500 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Thromb... |
OMIM:614171 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Mydriasis, Pyelonephritis, Megac... |
OMIM:619351 |
Acrofrontofacionasal Dysostosis |
|
Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmente... |
ORPHA:1784 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Transient ischemic attack, Hydroureter, Long palpebra... |
ORPHA:2995 |
Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Cerebral hemorrhage, Iris hypopigmentation, Epistaxis, Subarachnoi... |
ORPHA:53719 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Epicanthus, Hand tremor, Blue irides, Upslanted palpebral fissure, Micropenis |
ORPHA:3041 |
Scorpion Envenomation |
|
Mydriasis, Ketonuria, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block,... |
ORPHA:466677 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Optic disc h... |
ORPHA:448237 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Short palpebral fissure, Irregular hyperpigmentation, Blepharospasm, P... |
ORPHA:233 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Cataract, Hepatomegaly |
OMIM:614876 |
Alg2-Cdg |
|
Downslanted palpebral fissures, Epicanthus, Iris coloboma, Cataract, Hepatomegaly |
ORPHA:79326 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant... |
OMIM:152950 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Aganglionic megacolon, White eyelashes, Synophrys, White eyebrow, Hypo... |
ORPHA:894 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Astigmatism, Hypoplasia of the fovea, Hypopigmentation of hair, Blue i... |
OMIM:203100 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Epicanthus, Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Hepatomegaly, Ren... |
OMIM:614866 |
8Q21.11 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Iris hypopigmentation, Hypoplasia o... |
ORPHA:284160 |
Wolfram Syndrome 1 |
|
Hydronephrosis, Megaloblastic anemia, Optic atrophy, Neurogenic bladder, Hydroureter, Sideroblast... |
OMIM:222300 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Cataract, Limb tremor |
OMIM:616647 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Blepharophimosis, Limbal stem cell deficiency, Retinal dystrophy, Narrow palpebral fi... |
OMIM:618175 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Mevalonic Aciduria |
|
Downslanted palpebral fissures, Cataract, Splenomegaly |
ORPHA:29 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Tremor |
OMIM:278780 |
Noonan Syndrome 4 |
|
Hydronephrosis, Downslanted palpebral fissures, Sparse eyebrow, Bilateral ptosis, Epicanthus, Hyp... |
OMIM:610733 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism |
OMIM:300500 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrom... |
OMIM:609049 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Ptosis, Cataract, Epicanthus |
ORPHA:1373 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Cataract, Hepatomegaly, Optic disc pallor |
OMIM:613730 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Optic atrophy, Epicanthus, Retinal arteriolar tortuosity, Abnormality o... |
ORPHA:567 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Refsum Disease, Classic |
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Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Abnormal renal physiology, Pt... |
OMIM:266500 |
Kid Syndrome |
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Conjunctivitis, Sparse eyebrow, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctiviti... |
ORPHA:477 |
Piebaldism |
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Piebaldism, Aganglionic megacolon, White eyelashes, White eyebrow, Synophrys, Hypopigmented skin ... |
ORPHA:2884 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Aminoaciduria, Anterior chamber flare, Choroidal neovascularization, Cystoid macular edema, Mild ... |
ORPHA:91500 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Retinal detachment, Cataract |
OMIM:127200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Cataract |
OMIM:609115 |
Myopia 17, Autosomal Dominant |
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Presenile cataracts, Retinal hole |
OMIM:608367 |
Cofs Syndrome |
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Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Retinitis Pigmentosa 10 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Alagille Syndrome |
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Abnormal pupil morphology, Downslanted palpebral fissures, Nephrotic syndrome, Hypertension, Redu... |
ORPHA:52 |
Retinitis Pigmentosa |
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Optic atrophy, Hypoplasia of penis, Abnormality of retinal pigmentation, Cataract, Keratoconus, A... |
ORPHA:791 |
Retinitis Pigmentosa 2 |
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Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
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Aminoaciduria, Cataract |
ORPHA:2278 |
Revesz Syndrome |
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Megalocornea, Leukocoria, Exudative retinopathy, Bone marrow hypocellularity, Fine, reticulate sk... |
OMIM:268130 |
Spastic Paraplegia 5A, Autosomal Recessive |
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Urinary incontinence, Postural tremor, Cataract, Optic atrophy |
OMIM:270800 |
Retinitis Pigmentosa 25 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Rod-cone dystrophy, Optic atrophy, Intention tremor, Cataract, Decreased nerve conduction velocit... |
OMIM:612674 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... |
OMIM:172800 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Fair hair, Red hair, Hypospadias, Blue irides |
OMIM:614613 |
Oculocutaneous Albinism Type 5 |
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Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism |
ORPHA:370091 |
Harel-Yoon Syndrome |
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Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy,... |
OMIM:617183 |
Vogt-Koyanagi-Harada Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Vitiligo, Cat... |
ORPHA:3437 |
Trisomy 9P |
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Abnormal pupil morphology, Downslanted palpebral fissures |
ORPHA:236 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
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Ptosis, Cataract, Highly arched eyebrow |
OMIM:616154 |
Neonatal Adrenoleukodystrophy |
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Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation, Ptosis, Cataract |
ORPHA:44 |
Mowat-Wilson Syndrome |
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Downslanted palpebral fissures, Aganglionic megacolon, Broad eyebrow, Microcornea, Ptosis, Iris c... |
OMIM:235730 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Multiple Sulfatase Deficiency |
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Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... |
OMIM:231550 |
Albinism-Deafness Syndrome |
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Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
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Cataract |
OMIM:300261 |
Usher Syndrome Type 2 |
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Iris hypopigmentation, Cataract |
ORPHA:231178 |
Laurence-Moon Syndrome |
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Epicanthus, Hypoplasia of penis, Iris coloboma, Cataract, Renal insufficiency, Displacement of th... |
ORPHA:2377 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
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Calcium oxalate nephrolithiasis, Astigmatism, Optic atrophy |
OMIM:248000 |
Linear Verrucous Nevus Syndrome |
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Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Retinitis Pigmentosa 56 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Ptosis, Cataract |
ORPHA:1875 |
Sialidosis Type 2 |
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Abnormal macular morphology, Nephropathy, Tremor, Corneal opacity, Hepatomegaly, Ascites, Splenom... |
ORPHA:87876 |
Peroxisome Biogenesis Disorder 11B |
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Cataract, Hepatosplenomegaly |
OMIM:614885 |
Developmental And Epileptic Encephalopathy 93 |
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Iris coloboma, Optic atrophy |
OMIM:618012 |
Chédiak-Higashi Syndrome |
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Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... |
ORPHA:167 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Lissencephaly 5 |
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Cataract, Optic atrophy |
OMIM:615191 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cardiomyopathy, Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal ... |
ORPHA:370959 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Brushfield spots, Aminoaciduria, Prolonged neonatal jaundice, Epicanthus, Intrahepatic biliary dy... |
OMIM:214100 |
Leber Congenital Amaurosis 7 |
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Cataract, Keratoconus |
OMIM:613829 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Microcornea, Cataract, Spars... |
OMIM:257850 |
Noonan Syndrome 13 |
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Downslanted palpebral fissures, Cafe-au-lait spot, Epicanthus, Broad eyebrow, Multiple lentigines... |
OMIM:619087 |
Retinitis Pigmentosa 14 |
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Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Hermansky-Pudlak Syndrome 4 |
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Ocular albinism, Albinism, Absent platelet dense granules, Epistaxis, Hypoplasia of the fovea |
OMIM:614073 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia... |
OMIM:601552 |
Vitreoretinopathy, Neovascular Inflammatory |
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Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Wolf-Hirschhorn Syndrome |
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Rieger anomaly, Epicanthus, Biliary tract abnormality, Ptosis, Iris coloboma, Hypospadias, Access... |
OMIM:194190 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Angelman Syndrome |
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Hypopigmentation of the skin, Optic atrophy, Optic disc pallor, Fair hair, Iris hypopigmentation,... |
ORPHA:72 |
Plague |
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Lymphadenitis, Hypotension, Mydriasis, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis, Enlarg... |
ORPHA:707 |
Autosomal Recessive Stickler Syndrome |
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Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy |
ORPHA:250984 |
Aortic Aneurysm, Familial Thoracic 4 |
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Aortic regurgitation, Abnormal left ventricular function, Abnormal iris pigmentation |
OMIM:132900 |
Exudative Vitreoretinopathy 4 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Triple A Syndrome |
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Iris coloboma, Generalized hyperpigmentation, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Srd5A3-Cdg |
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Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Cat... |
ORPHA:324737 |
Hypomelanosis Of Ito |
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Macular hypopigmented whorls, streaks, and patches, Iris coloboma, Cataract, Epicanthus |
OMIM:300337 |
Microphthalmia, Isolated, With Coloboma 9 |
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Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... |
OMIM:615145 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Tortuosity of conjunctival vessels, Macular degeneration, Ptosis, Cataract, Intention tremor |
ORPHA:284289 |
Microphthalmia, Isolated, With Coloboma 5 |
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Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
Infantile Refsum Disease |
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Cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Cataract, Hepatomegaly, Arrhythmia, Facial palsy |
ORPHA:772 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
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Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Waardenburg Syndrome, Type 4C |
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Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... |
OMIM:613266 |
Retinitis Pigmentosa 72 |
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Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Pontocerebellar Hypoplasia, Type 16 |
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Ptosis, Cataract, Optic atrophy |
OMIM:619527 |
Peroxisome Biogenesis Disorder 9B |
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Cataract, Rod-cone dystrophy, Cardiomyopathy |
OMIM:614879 |
Juvenile Xanthogranuloma |
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Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Myeloproliferative ... |
ORPHA:158000 |
Wildervanck Syndrome |
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Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Combined Oxidative Phosphorylation Deficiency 13 |
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Cataract, Choreoathetosis, Dystonia, Decreased nerve conduction velocity |
OMIM:614932 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Gyrate Atrophy Of Choroid And Retina |
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Aminoaciduria, Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioreti... |
ORPHA:414 |
Phace Syndrome |
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Abnormality of the orbital region, Retinal vascular malformation, Lens coloboma, Optic nerve hypo... |
ORPHA:42775 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Agangli... |
ORPHA:3440 |
Wagr Syndrome |
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Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Displacement of the urethral meatus |
ORPHA:893 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Downslanted palpebral fissures, Abnormal auditory evoked potentials, Long eyelashes, Astigmatism,... |
OMIM:617523 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Aniridia, Microcornea |
OMIM:106230 |
Flynn-Aird Syndrome |
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Cataract, Rod-cone dystrophy |
OMIM:136300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Long eyelashes, Microcornea,... |
ORPHA:48431 |
Lacrimoauriculodentodigital Syndrome |
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Vesicoureteral reflux, Keratoconjunctivitis, Absent lacrimal punctum, Limbal stem cell deficiency... |
ORPHA:2363 |
Deafness, Autosomal Recessive 108 |
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Iris coloboma |
OMIM:617654 |
Congenital Disorder Of Glycosylation, Type Ii |
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Upslanted palpebral fissure, Epicanthus, Iris coloboma, Cataract, Hepatomegaly, Iron deficiency a... |
OMIM:607906 |
Retinitis Pigmentosa 43 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Warburg Micro Syndrome 1 |
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Ptosis, Optic atrophy, Developmental cataract, Microcornea |
OMIM:600118 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
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Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration, Microcornea |
OMIM:615458 |
Leber Hereditary Optic Neuropathy |
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Postural tremor, Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, ... |
ORPHA:104 |
Neuraminidase Deficiency |
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Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Catar... |
OMIM:256550 |
Hurler-Scheie Syndrome |
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Abnormal nerve conduction velocity, Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Sp... |
ORPHA:93476 |
Baralle-Macken Syndrome |
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Urinary incontinence, Cafe-au-lait spot, Cataract, Upslanted palpebral fissure, Dystonia |
OMIM:619255 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
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Downslanted palpebral fissures, Cataract |
ORPHA:3433 |
Refsum Disease |
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Retinopathy, Abnormality of retinal pigmentation, Heart block, Ptosis, Cataract, Renal insufficie... |
ORPHA:773 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Liberfarb Syndrome |
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Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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3-Methylglutaconic aciduria, Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, ... |
ORPHA:496790 |
Joubert Syndrome 9 |
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Hepatic fibrosis, Stage 5 chronic kidney disease, Retinal dystrophy, Astigmatism, Cataract |
OMIM:612285 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hermansky-Pudlak Syndrome 10 |
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Ocular albinism, Albinism, Hepatomegaly, Neutropenia, Dystonia, Splenomegaly |
OMIM:617050 |
Retinitis Pigmentosa 66 |
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Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... |
OMIM:615233 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
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Ocular albinism |
ORPHA:1000 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Retinal dysplasia, Cataract, Dilated cardiomyopathy, Optic atrophy |
ORPHA:272 |
Cataract 48 |
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Cataract, Miosis |
OMIM:618415 |
Combined Saposin Deficiency |
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Optic atrophy, Splenomegaly, Hepatomegaly |
OMIM:611721 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Urinary incontinence, Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule p... |
OMIM:609033 |
Hemochromatosis, Type 4 |
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Anemia, Cirrhosis, Hepatic steatosis, Cataract, Hepatomegaly, Arrhythmia, Hyperpigmentation of th... |
OMIM:606069 |
Retinitis Pigmentosa 60 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
Charcot-Marie-Tooth Disease Type 4C |
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Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond... |
ORPHA:99949 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Optic atrophy, Epicanthus, Broad eyebrow, Duplication of renal pelvis, Iris coloboma, T... |
ORPHA:261552 |
Alpha-Mannosidosis, Adult Form |
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Pancytopenia, Hepatosplenomegaly, Aortic regurgitation, Cataract, Corneal opacity, Oligosaccharid... |
ORPHA:309288 |
Cataract 47 |
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Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Sialidosis Type 1 |
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Aminoaciduria, Retinopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O... |
ORPHA:812 |
Hemoglobin H Disease |
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Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Absence Deformity Of Leg-Cataract Syndrome |
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Cataract |
ORPHA:2310 |
Microphthalmia With Brain And Digit Anomalies |
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Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea |
ORPHA:139471 |
Stickler Syndrome, Type Ii |
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Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Hermansky-Pudlak Syndrome 6 |
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Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Albinism, Epistaxis, Abnormal ... |
OMIM:614075 |
Mevalonic Aciduria |
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