Megalocornea |
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Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Corneal Dystrophy, Congenital Stromal |
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Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Leber Congenital Amaurosis 4 |
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Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Keratoconus 9 |
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Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Deafness-Vitiligo-Achalasia Syndrome |
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Achalasia, Severe short stature |
ORPHA:3239 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Deafness, Congenital, With Vitiligo And Achalasia |
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Achalasia, Short stature |
OMIM:221350 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Achalasia-Microcephaly Syndrome |
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Achalasia |
OMIM:200450 |
Leber Congenital Amaurosis 9 |
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Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Leber Congenital Amaurosis 1 |
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Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Achalasia-Microcephaly Syndrome |
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Growth delay, Achalasia |
ORPHA:929 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Leber Congenital Amaurosis |
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Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Achalasia |
ORPHA:2400 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 21, Multiple Types |
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Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Coats Disease |
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Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Dystonia-Deafness Syndrome 1 |
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Achalasia, Small for gestational age, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... |
OMIM:229200 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esoph... |
ORPHA:1018 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Achalasia, Dysphagia |
OMIM:300858 |
Edict Syndrome |
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Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia |
OMIM:200400 |
Retinitis Pigmentosa |
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Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
Moyamoya Disease 6 With Or Without Achalasia |
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Achalasia, Dysphagia |
OMIM:615750 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Congenital Primary Aphakia |
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Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Immunodeficiency 70 |
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Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Brittle Cornea Syndrome |
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Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Mitral valve prolapse, ... |
ORPHA:90354 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Achalasia, Short stature |
ORPHA:436174 |
Triple A Syndrome |
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Achalasia, Short stature |
ORPHA:869 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Achalasia, Short stature, Dysphagia |
ORPHA:79107 |
Dermatitis, Atopic |
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Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold |
OMIM:108145 |
Tetrasomy 18P |
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Achalasia |
ORPHA:3307 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Short stature, Celiac disease, Abnormal intestine morphology, Delayed puberty, Achalasia, Exocrin... |
OMIM:615952 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Keratoconus, Patent foramen ovale, Retinal degeneration |
ORPHA:542306 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Scleromyxedema |
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Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis |
ORPHA:167635 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Mirage Syndrome |
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Short stature, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Decreased body we... |
OMIM:617053 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Achalasia, Gastroesophageal reflux, Short stature, Feeding difficulties |
OMIM:600987 |
American Trypanosomiasis |
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Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... |
OMIM:619482 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Achalasia, Dysphagia |
ORPHA:289483 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Achalasia |
OMIM:609033 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness |
ORPHA:293967 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Short stature |
OMIM:231550 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul... |
OMIM:209880 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Short stature, Feeding difficulties, Esophagitis, Intrauterine growth retardation, Achalasia |
OMIM:615356 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Achalasia, Short stature |
OMIM:616007 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Feeding difficulties, Dysphagia |
OMIM:615510 |
Warburg-Cinotti Syndrome |
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Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... |
OMIM:618175 |
Costello Syndrome |
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Keratoconus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
ORPHA:3071 |
Alagille Syndrome |
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Keratoconus, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Atrial sept... |
ORPHA:52 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Optic atrophy, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Fabry Disease |
|
Nausea and vomiting, Short stature, Anorexia, Malabsorption, Abdominal pain, Delayed puberty, Ach... |
ORPHA:324 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Nail-Patella Syndrome |
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Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Gapo Syndrome |
|
Keratoconus, Optic atrophy |
ORPHA:2067 |
Gapo Syndrome |
|
Keratoconus, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber, Megalocornea |
OMIM:230740 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Ventricular hypertrophy, Aortic valve stenosis, Astigmatism |
OMIM:208050 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Myocarditis, Dilated cardiomyopathy, Keratoglobus, Abnormal myocardium morphology, H... |
ORPHA:3342 |
Lacrimoauriculodentodigital Syndrome |
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Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Limbal stem cell d... |
ORPHA:2363 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Retinal detachment, Keratoconus |
OMIM:225400 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Mitral valve prolapse |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology, Abnormal heart valve morphology, Mitral valve prolapse |
ORPHA:286 |