| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Hyperthreoninemia |
OMIM:204000 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Hypoproteinemia |
OMIM:608093 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Leptospirosis |
|
Hyperproteinemia, Conjunctival hyperemia |
ORPHA:509 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia |
ORPHA:289522 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness |
ORPHA:90354 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness |
ORPHA:293967 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia... |
ORPHA:167 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
| Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
| Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
| Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
| Gapo Syndrome |
|
Keratoconus, Shallow anterior chamber, Megalocornea |
OMIM:230740 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Keratoconus |
OMIM:225400 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypokalemia, Abnormal pupil morphology |
ORPHA:286 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus |
OMIM:130050 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
