| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
| Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
| Megalocornea |
|
Megalocornea |
OMIM:249300 |
| Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Corneal Hypesthesia, Familial |
|
Decreased corneal sensation, Recurrent corneal erosions |
OMIM:122450 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
| Facial Paresis, Hereditary Congenital, 1 |
|
Decreased corneal reflex |
OMIM:601471 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
| Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... |
OMIM:217700 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Macular Dystrophy, Corneal |
|
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions |
OMIM:217800 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy |
OMIM:607541 |
| Li-Fraumeni Syndrome |
|
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... |
OMIM:151623 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... |
OMIM:180550 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion |
OMIM:608470 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Tumor Predisposition Syndrome |
|
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma |
OMIM:614327 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... |
ORPHA:98960 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... |
OMIM:136800 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Lattice Corneal Dystrophy Type I |
|
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... |
ORPHA:98964 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Corneal Dystrophy, Lattice Type Iiia |
|
Lattice corneal dystrophy, Corneal erosion |
OMIM:608471 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia |
OMIM:610021 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... |
OMIM:617315 |
| Apolipoprotein A-I Deficiency |
|
Corneal opacity |
ORPHA:425 |
| X-Linked Endothelial Corneal Dystrophy |
|
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Decreased corneal thickness, Corneal arcus |
OMIM:217300 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Mantle Cell Lymphoma |
|
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... |
ORPHA:293603 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy |
OMIM:602082 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... |
OMIM:107250 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... |
OMIM:613270 |
| Macular Corneal Dystrophy |
|
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... |
ORPHA:98969 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Peters Anomaly |
|
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... |
ORPHA:708 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea |
OMIM:269400 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... |
OMIM:615559 |
| Mast Cell Sarcoma |
|
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... |
ORPHA:66661 |
| Bazex Syndrome |
|
Neoplasm, Liposarcoma, Lung adenocarcinoma, Anemia |
ORPHA:166113 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... |
OMIM:122000 |
| Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
| Megalocornea |
|
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... |
OMIM:309300 |
| Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Limbal Stem Cell Deficiency |
|
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... |
ORPHA:171673 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... |
OMIM:116200 |
| Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... |
OMIM:133180 |
| Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Congenital corneal dystrophy |
OMIM:610048 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, B-cell lymphoma, Recurrent bro... |
OMIM:619164 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea |
ORPHA:83461 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Asbestos Intoxication |
|
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... |
ORPHA:2302 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphoma, Hepatomegaly, B-cell lymphoma, Breast carcinoma, Splenomegaly, Lymphadenop... |
ORPHA:86893 |
| Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... |
ORPHA:293381 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... |
OMIM:604229 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... |
OMIM:614470 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity |
ORPHA:1473 |
| Edict Syndrome |
|
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism |
OMIM:614303 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Herpes Simplex Virus Stromal Keratitis |
|
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... |
ORPHA:137599 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract |
OMIM:610202 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, Ly... |
OMIM:619126 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hepatomegaly, Jaundice, Neoplasm, Short stature, Splenomegaly, Failure to thrive |
ORPHA:172 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia |
OMIM:607685 |
| Amoebic Keratitis |
|
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... |
ORPHA:67043 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
| Oculoauricular Syndrome |
|
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea |
OMIM:612109 |
| Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... |
ORPHA:69736 |
| Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Autosomal Dominant Keratitis |
|
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... |
ORPHA:2334 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... |
OMIM:601631 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... |
OMIM:606719 |
| Hodgkin Lymphoma |
|
Weight loss, Lymphoma, Hepatomegaly, Neoplasm, Splenomegaly, Hemoptysis, Lymphadenopathy |
ORPHA:98293 |
| Immunodeficiency 72 With Autoinflammation |
|
Bronchiectasis, Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegal... |
OMIM:618982 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent bronchitis, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Bronchiectasis, ... |
OMIM:300853 |
| Blue Cone Monochromatism |
|
Corneal dystrophy |
ORPHA:16 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Immunodeficiency 54 |
|
Lymphoproliferative disorder, Postnatal growth retardation, Hepatomegaly, Reduced natural killer ... |
OMIM:609981 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... |
OMIM:610256 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... |
OMIM:608971 |
| Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly |
OMIM:269840 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea |
OMIM:614170 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... |
ORPHA:98973 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory... |
OMIM:618495 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Weight l... |
ORPHA:83469 |
| Cataract 17, Multiple Types |
|
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract |
OMIM:611544 |
| Atopic Keratoconjunctivitis |
|
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization |
ORPHA:163934 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Marsili Syndrome |
|
Decreased corneal reflex |
OMIM:147430 |
| Follicular Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Weight loss, Lymphoma, Splenomegaly, Mediastinal... |
ORPHA:545 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... |
ORPHA:231401 |
| Immunodeficiency 55 |
|
Myelodysplasia, Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth ret... |
OMIM:617827 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Hemochromatosis Type 2 |
|
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... |
ORPHA:79230 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... |
ORPHA:75564 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Immunodeficiency 36 |
|
Bronchiectasis, Lymphopenia, Growth delay, Chronic lymphatic leukemia, B-cell lymphoma, Short sta... |
OMIM:616005 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:617514 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal scarring, Corneal ulceration |
OMIM:616488 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma, Increased body weight, Weight loss |
ORPHA:1501 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Reticulocytosis... |
ORPHA:3261 |
| Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... |
ORPHA:444463 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Chondrosarcoma, Growth delay, Hemangiomatosi... |
ORPHA:163634 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology |
ORPHA:411777 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium |
OMIM:270200 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... |
OMIM:615513 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... |
ORPHA:2585 |
| Alpha-Thalassemia |
|
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... |
ORPHA:846 |
| Cataract 2, Multiple Types |
|
Developmental cataract, Microcornea, Nuclear cataract |
OMIM:604307 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea |
OMIM:251750 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Galactose Epimerase Deficiency |
|
Growth delay, Weight loss, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Ollier Disease |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... |
ORPHA:296 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Dermatomyositis |
|
Gastrointestinal stroma tumor, Pulmonary fibrosis, Weight loss, Lymphoma, Neoplasm, Abnormal pulm... |
ORPHA:221 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly, Diffus... |
OMIM:607616 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Weight loss, Throm... |
ORPHA:69077 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Growth delay, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpus... |
OMIM:615234 |
| Mu-Heavy Chain Disease |
|
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity |
OMIM:619339 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Failure to thrive, Splenomegaly |
OMIM:615947 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Lymphoma, Hepatomegaly, Neoplasm, Splenomegaly, Hemoptysis, Bone marrow hypocellular... |
ORPHA:391 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Failure to thrive, Hepatospleno... |
OMIM:618963 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Recurrent respiratory infections, Weight loss, Thrombo... |
ORPHA:3226 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Abnormal corneal endothelium morphology |
OMIM:614195 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Neutropenia in presence... |
OMIM:619220 |
| Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly |
ORPHA:796 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Recurrent pneumonia, Lymphoproliferative disorder, Lymphoma, Pancytopenia, Hepa... |
OMIM:615122 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Follicular hyperp... |
OMIM:240500 |
| Neurotrophic Keratopathy |
|
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... |
ORPHA:137596 |
| Norrie Disease |
|
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma |
OMIM:310600 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... |
OMIM:308240 |
| Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneous T-cell lymphoma, ... |
ORPHA:2584 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Cataract, Microcornea, Astigmatism, Myopic astigmatism |
OMIM:152950 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| X-Linked Lymphoproliferative Disease |
|
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... |
ORPHA:2442 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... |
OMIM:221900 |
| Primary Myelofibrosis |
|
Poikilocytosis, Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytope... |
ORPHA:824 |
| Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
| Keratosis, Familial Actinic |
|
Neoplasm, Uterine neoplasm, Carcinoma |
OMIM:148390 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Schnitzler Syndrome |
|
Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
| Trimethylaminuria |
|
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:290 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... |
OMIM:607594 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemi... |
OMIM:615631 |
| Immunodeficiency 27A |
|
Thrombocytosis, Pulmonary infiltrates, Leukocytosis, Pneumonia, Weight loss, Histiocytosis, Anemi... |
OMIM:209950 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Muir-Torre Syndrome |
|
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... |
OMIM:158320 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Short stature, Splenomegaly |
OMIM:614480 |
| Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... |
ORPHA:79302 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Episodic h... |
ORPHA:276575 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eo... |
OMIM:603554 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss, Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Lympha... |
ORPHA:98849 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... |
OMIM:601847 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly |
OMIM:230350 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural e... |
OMIM:613011 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
| Mietens Syndrome |
|
Cataract, Microcornea, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
| Caspase 8 Deficiency |
|
Pneumonia, Recurrent sinopulmonary infections, Splenomegaly, Decreased CD4:CD8 ratio, Failure to ... |
OMIM:607271 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... |
ORPHA:3163 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
| Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Thrombocytop... |
OMIM:613101 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Hepatomegaly, Neoplasm, Stomach cancer, Cachexia, Anemia, Splenomegal... |
ORPHA:2930 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
| Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly |
ORPHA:417 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
| Cancer-Associated Retinopathy |
|
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... |
ORPHA:71505 |
| Felty Syndrome |
|
Recurrent pneumonia, Pleuritis, Pulmonary fibrosis, Abnormal lymphocyte morphology, Neutropenia, ... |
ORPHA:47612 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... |
OMIM:237800 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
| Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... |
ORPHA:1183 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Recurrent pneumonia, Short stature, Splenomegaly |
OMIM:602271 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:79301 |
| Insulinoma |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... |
ORPHA:97279 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Common Variable Immunodeficiency |
|
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopeni... |
ORPHA:1572 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... |
ORPHA:86843 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... |
OMIM:150550 |
| African Iron Overload |
|
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... |
ORPHA:139507 |
| Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Pneumonia, Lymphadenopathy, Hepatomegaly, Lymphoma,... |
ORPHA:39041 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... |
OMIM:603552 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Pancytopenia, Thrombocytopenia, Hepatomegaly, Short stature, Splenomegaly |
OMIM:231000 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Short stature, Splenomegaly |
ORPHA:2204 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hype... |
ORPHA:276580 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Infantile Myofibromatosis |
|
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Neoplasm of the sk... |
ORPHA:2591 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Hypoplasia of lymphatic vessel... |
ORPHA:662 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Lymphoproliferative d... |
OMIM:614700 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Opacification of the corneal stroma |
OMIM:614230 |
| Sézary Syndrome |
|
Abnormal pleura morphology, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly,... |
ORPHA:3162 |
| Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
| Roifman Syndrome |
|
Recurrent pneumonia, Underdeveloped nasal alae, Postnatal growth retardation, Lymphadenopathy, He... |
OMIM:616651 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Proteus Syndrome |
|
Hemangioma, Multiple lipomas, Splenomegaly, Lymphangioma, Lipoma, Depressed nasal bridge |
OMIM:176920 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Growth delay, Hepatomegaly, Hypereosinophilia, Failure to thrive, Sp... |
OMIM:617388 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
| Aredyld Syndrome |
|
Refractory anemia with ringed sideroblasts, Hepatomegaly, Cachexia, Short stature, Splenomegaly, ... |
ORPHA:1133 |
| Pfapa Syndrome |
|
Weight loss, Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy |
ORPHA:42642 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Immunodeficiency 32B |
|
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections |
OMIM:226990 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
OMIM:102700 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly |
OMIM:300972 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... |
ORPHA:247806 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Intrauterine growth retardation, Splenomegaly |
OMIM:608540 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia |
OMIM:615085 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... |
OMIM:616050 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Myelodysplasia, Acute leukemia, Splenomegaly |
ORPHA:3318 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:1414 |
| Macrocephaly/Autism Syndrome |
|
Short nose, Lymphopenia, Hepatomegaly, Depressed nasal bridge, Splenomegaly, Obesity |
OMIM:605309 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... |
OMIM:167800 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... |
OMIM:618935 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Severe short stature, Hepatomegaly, J... |
OMIM:211600 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Failure to thrive, Ant... |
OMIM:269920 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Iris coloboma |
OMIM:169550 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus |
OMIM:229200 |
| Gamma-Heavy Chain Disease |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... |
ORPHA:100026 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Hepa... |
OMIM:610333 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... |
OMIM:613179 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... |
OMIM:256800 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Hepa... |
ORPHA:276556 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Failure to thrive, Splenomegaly |
OMIM:228000 |
| Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Familial Adenomatous Polyposis 1 |
|
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... |
OMIM:175100 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:79303 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... |
ORPHA:231154 |
| Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pheochromocytoma, Neuroendocrine neoplasm, Weight loss, Truncal obesity, Thyroid carcinoma, Thymo... |
ORPHA:99889 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia, Recurrent aspiration pne... |
OMIM:230900 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
| Bloom Syndrome |
|
Azoospermia, Bronchiectasis, Recurrent upper respiratory tract infections, Postnatal growth retar... |
OMIM:210900 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly, Recurrent... |
OMIM:300635 |
| Wolman Disease |
|
Bone-marrow foam cells, Growth delay, Hepatomegaly, Ascites, Anemia, Splenomegaly, Cachexia |
ORPHA:75233 |
| Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
| Large Congenital Melanocytic Nevus |
|
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin |
ORPHA:626 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Lymphadenitis, Autoimmune hemolytic anemi... |
ORPHA:331206 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... |
ORPHA:766 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity |
ORPHA:309288 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... |
ORPHA:90033 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Lymphoma, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
| Transaldolase Deficiency |
|
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... |
OMIM:606003 |
| Distal Monosomy 6P |
|
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... |
ORPHA:96125 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Hepatomegaly, Spleno... |
ORPHA:507 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Growth delay, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatospleno... |
OMIM:611490 |
| Fanconi Anemia, Complementation Group N |
|
Medulloblastoma, Neuroblastoma, Postnatal growth retardation, Nephroblastoma, Aplastic anemia |
OMIM:610832 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
| Aniridia 1 |
|
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... |
OMIM:106210 |
| Immunodeficiency 60 |
|
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased basophil co... |
OMIM:618394 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
| Familial Thrombocytosis |
|
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia... |
ORPHA:71493 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly |
OMIM:612526 |
| Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... |
OMIM:257200 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Azoospermia, Pleural effusion, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardio... |
OMIM:235200 |
| Zellweger Syndrome |
|
Cataract, Brushfield spots, Corneal opacity, Posterior embryotoxon |
ORPHA:912 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
| Babesiosis |
|
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Recurrent p... |
ORPHA:108 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Hemangioma, Hepatomegaly, Failure to thrive, Splenomegaly, Depressed nasal bridge |
OMIM:608799 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Es... |
ORPHA:44890 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... |
OMIM:278000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Failure to thrive |
ORPHA:79312 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Colorectal polyposis, Endometrial carcinoma, Carcinoma |
OMIM:612591 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly |
OMIM:613313 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... |
OMIM:612840 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Neutropenia, Wide nasal bridge, Hyp... |
OMIM:612541 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... |
ORPHA:231226 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... |
OMIM:616860 |
| Gaucher Disease, Type I |
|
Multiple myeloma, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormal pulmonary ... |
OMIM:230800 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Congenital Sialidosis Type 2 |
|
Cataract, Developmental cataract, Corneal opacity |
ORPHA:93400 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Short stature, Splenomegaly |
OMIM:201100 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Iris coloboma, Corneal opacity |
ORPHA:899 |
| Beta-Thalassemia Major |
|
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... |
ORPHA:231214 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Azoospermia, Splenomegaly |
OMIM:602390 |
| Mastocytosis |
|
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia |
ORPHA:98292 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
| Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
| Wilson Disease |
|
Acute hepatitis, Cirrhosis, Hepatic steatosis, Weight loss, Thrombocytopenia, Jaundice, Hepatomeg... |
ORPHA:905 |
| Werner Syndrome |
|
Slender build, Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Cutaneous melanoma,... |
ORPHA:902 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... |
OMIM:616828 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Intrauterine growth retardation, Splenomegaly, Hepatomegaly |
OMIM:615846 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Thrombocytopenia, Hepatomegaly, Neoplasm, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
| Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Hepatomegaly, Abnormal pulmonary... |
OMIM:612387 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory infections |
OMIM:613489 |
| Beta-Thalassemia Intermedia |
|
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... |
ORPHA:231222 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... |
ORPHA:98848 |
| Mevalonic Aciduria |
|
Short stature, Splenomegaly |
ORPHA:29 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... |
ORPHA:381 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
| Poikiloderma With Neutropenia |
|
Recurrent sinusitis, Neutropenia, Splenomegaly, Short stature, Recurrent pneumonia |
OMIM:604173 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Polycythemia Vera |
|
Myelodysplasia, Weight loss, Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia |
ORPHA:729 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:214900 |
| Familial Dysautonomia |
|
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis |
ORPHA:1764 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... |
OMIM:612714 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Pulmonary infi... |
ORPHA:79477 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Growth delay, Cholestasis, Hepatic fibrosis... |
ORPHA:264580 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Pharyngalgia, Lymphadenopathy, Splenomegaly |
OMIM:611762 |
| Caroli Disease |
|
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... |
ORPHA:53035 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma |
OMIM:601499 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly... |
OMIM:256550 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... |
OMIM:616689 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... |
OMIM:308230 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hyperhidrosis, Increased hepatic g... |
ORPHA:263455 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... |
OMIM:251880 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Splenomegaly, Cholestasis |
OMIM:105200 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism |
ORPHA:2719 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas physiology, Diabete... |
ORPHA:93111 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Growth delay, Hepatomegaly, Jaundice, Short stature, Splenomegaly |
OMIM:608885 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity |
OMIM:301056 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma, Disproportionate short-limb short stature |
ORPHA:2098 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Growth delay, Cho... |
ORPHA:370 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Abnormal anterior chamber morphology, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Kaposiform Lymphangiomatosis |
|
Abnormal lung morphology, Enlarged kidney, Pancreatic cysts, Pleural effusion, Abnormal lymphatic... |
ORPHA:464329 |
| Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... |
OMIM:611881 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Weight loss, Hepatome... |
ORPHA:77297 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gall... |
OMIM:615710 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... |
ORPHA:288 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Failure to thrive, Spleno... |
OMIM:613812 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... |
OMIM:616100 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... |
ORPHA:848 |
| Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
| Adult-Onset Still Disease |
|
Pleuritis, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neut... |
ORPHA:829 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... |
OMIM:616278 |
| Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Growth delay, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cholestasis, Hepatic fibrosis, Hepatomegaly, Short stature, Splenomegaly, Obesity |
OMIM:615630 |
| Donohue Syndrome |
|
Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Precocious puberty, Pancreatic islet-cell hyperp... |
OMIM:246200 |
| Zimmermann-Laband Syndrome |
|
Gingival fibromatosis, Bulbous nose, Growth delay, Hepatomegaly, Splenomegaly, Wide nose |
ORPHA:3473 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly |
ORPHA:75234 |
| Hurler Syndrome |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:607014 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Thrombocytopenia, Hepatomegaly, Failure to thrive, Splenomegaly, Anemia |
ORPHA:2785 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... |
OMIM:601346 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Short nose, Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Ane... |
OMIM:170100 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... |
OMIM:266200 |
| Hypocomplementemic Urticarial Vasculitis |
|
Pleural effusion, Emphysema, Lymphoma, Hepatomegaly, Ascites, Splenomegaly, Hemoptysis, Lymphaden... |
ORPHA:36412 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Cataract, Opacification of the corneal stroma |
OMIM:211370 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Growth delay, Hepatome... |
ORPHA:1451 |
