| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Respiratory insufficiency |
ORPHA:2432 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Corneal arcus, Sto... |
OMIM:210250 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
| Malaria |
|
Respiratory distress, Anemia, Thrombocytopenia |
ORPHA:673 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Methionine Malabsorption Syndrome |
|
Tachypnea, Blue irides |
OMIM:250900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Decrease... |
OMIM:607616 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia, Keratoconjunctivitis |
ORPHA:79242 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea, Ptosis |
OMIM:617622 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Bernard-Soulier Syndrome |
|
Spontaneous, recurrent epistaxis, Asthma, Giant platelets, Decreased platelet glycoprotein Ib-IX-... |
ORPHA:274 |
| Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Upslanted palpe... |
OMIM:616737 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation, Ptosis |
OMIM:611560 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Joubert Syndrome 9 |
|
Cataract, Apnea, Episodic tachypnea, Astigmatism |
OMIM:612285 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Abnormal breath sound, Cou... |
ORPHA:210136 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Epicanthus, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Res... |
ORPHA:2257 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Lathosterolosis |
|
Epicanthus, Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil... |
OMIM:607330 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:616576 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis |
OMIM:610539 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Propionic Acidemia |
|
Pancytopenia, Apnea, Tachypnea, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Atelis Syndrome 1 |
|
Cataract, Bronchiectasis, Anemia, Leukopenia, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:620184 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:614857 |
| Joubert Syndrome 3 |
|
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregul... |
OMIM:608629 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... |
OMIM:602562 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Upslanted palpebral fissure, Anemia, Downslanted palpebral fissures, Thrombocyto... |
OMIM:611209 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Tachypnea, Spherocytosis, Hep... |
ORPHA:71275 |
| Tularemia |
|
Respiratory distress, Pneumonia, Thrombocytopenia, Leukocytosis, Conjunctivitis, Cough, Pleural e... |
ORPHA:3392 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Anemia, Ptosis |
OMIM:615838 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Sengers Syndrome |
|
Cataract, Respiratory insufficiency, Developmental cataract, Pulmonary arterial hypertension, Thr... |
OMIM:212350 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia |
ORPHA:290 |
| Pyruvate Dehydrogenase Deficiency |
|
Upslanted palpebral fissure, Dyspnea, Epicanthus, Tachypnea |
ORPHA:765 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Upslanted palpe... |
ORPHA:487796 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Sialidosis Type 2 |
|
Splenomegaly, Dyspnea, Corneal opacity |
ORPHA:87876 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Thrombotic Thrombocytopenic Purpura |
|
Dyspnea, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Abnormal respiratory system physiology, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Babesiosis |
|
Hemolytic anemia, Splenomegaly, Respiratory insufficiency, Leukopenia, Cough, Thrombocytopenia |
ORPHA:108 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... |
OMIM:152950 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Lig4 Syndrome |
|
Pancytopenia, Epicanthus, Asthma, Acute lymphoblastic leukemia, Upslanted palpebral fissure, Asti... |
OMIM:606593 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Stt3B-Cdg |
|
Respiratory distress, Thrombocytopenia |
ORPHA:370924 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Respiratory insufficiency... |
ORPHA:848 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:614299 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Thrombocytopenia |
OMIM:615597 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Joubert Syndrome With Oculorenal Defect |
|
Apnea, Highly arched eyebrow, Tachypnea, Iris coloboma, Ptosis |
ORPHA:2318 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Thrombocytopenia, Bronchiectasis, Cough, Anemi... |
ORPHA:169105 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity |
ORPHA:93476 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Anemia |
ORPHA:27 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, B lymphoc... |
OMIM:150550 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Decreased mean platelet volume, Lymphocytosis, Blepharitis, Thrombocytopenia |
OMIM:617718 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Respiratory insufficiency |
OMIM:613153 |
| Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Downslanted palpebral fissures, Increased mean platelet volume |
OMIM:222470 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... |
OMIM:613011 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morpholog... |
ORPHA:229717 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Downslanted palpebral fissures, Episodic tachypnea |
ORPHA:2872 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
| Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Corneal opacity, Developmental cataract |
OMIM:617183 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Ocular albi... |
OMIM:614074 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Respiratory insufficiency, ... |
OMIM:617021 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Respiratory insufficiency |
ORPHA:69077 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Highly arched eyebrow, Abnormal pattern of respiration, Iris coloboma,... |
ORPHA:475 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Corneal opacity |
OMIM:618961 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea, Leukopenia, Thrombocytosis, Lymphopenia, Anemia |
OMIM:615934 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe... |
ORPHA:1234 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Braddock-Carey Syndrome 2 |
|
Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619981 |
| Prolidase Deficiency |
|
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Anemia, Ptosis |
OMIM:170100 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:507 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Rodrigues Blindness |
|
Microcornea, Nasal flaring, Sclerocornea |
OMIM:268320 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Respiratory failure, Pulmo... |
OMIM:613845 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Leukocytosis, Respiratory insufficiency, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Respiratory failure, Myelo... |
ORPHA:3226 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
| Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... |
ORPHA:101096 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Pulmonary arteri... |
OMIM:230800 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... |
OMIM:618278 |
| Letterer-Siwe Disease |
|
Dyspnea, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Respiratory insufficiency |
ORPHA:1237 |
| Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
| Biotinidase Deficiency |
|
Splenomegaly, Conjunctivitis, Tachypnea, Apnea |
OMIM:253260 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Chronic neutropenia, Autoimmune thrombocyto... |
OMIM:614700 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Farber Disease |
|
Respiratory distress, Corneal opacity, Thrombocytopenia, Respiratory insufficiency, Hepatosplenom... |
ORPHA:333 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Tachypnea, Cough |
ORPHA:134 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Brushfield spots, Respiratory insufficiency, Upslanted pal... |
ORPHA:912 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
| Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... |
ORPHA:3163 |
| Relapsing Fever |
|
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia |
ORPHA:91547 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Telecanthus, Apnea, Recurrent pneumonia, Aspiration pneumo... |
ORPHA:314655 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:61 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Dyspnea, Tachypnea, Anemia |
OMIM:239200 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow... |
ORPHA:284160 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Leukopenia, Astigmatism, Downslanted palpebral fissures, Thrombocyt... |
OMIM:301056 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Thrombocytopenia, Ptosis |
OMIM:222300 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia |
ORPHA:1867 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Ectropion |
ORPHA:85212 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropeni... |
ORPHA:520 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Upslanted palpebral fissure, Cataract, Corneal opacity |
ORPHA:496790 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Epicanthus, Splenomegaly, Recurrent pneumonia, Ocular albinism, I... |
OMIM:608233 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Increased circulating myelocyte count, Inc... |
ORPHA:36234 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea |
OMIM:201475 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Leukocytosis, Tachypnea, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
| Drug-Induced Lupus Erythematosus |
|
Dyspnea, Thrombocytopenia, Anemia |
ORPHA:231111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Thrombocytopenia, Recurrent pneumonia, Conjunctivitis, Neutropenia, Anemia |
ORPHA:47 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Dyspnea, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification o... |
OMIM:242900 |
| Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Asthma, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Ptosis |
OMIM:617143 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
OMIM:619463 |
| Lathosterolosis |
|
Epicanthus, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacificati... |
ORPHA:46059 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Pleural eff... |
OMIM:619644 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia, Epistaxis, Cardiorespiratory arrest |
ORPHA:99828 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Epicanthus, Telecanthus, Thrombocytopenia, Splenomegaly, Recurrent pneumoni... |
OMIM:617303 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis, Thrombocytopenia |
ORPHA:449285 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... |
ORPHA:1830 |
| Zika Virus Disease |
|
Lens subluxation, Conjunctivitis, Iris coloboma, Thrombocytopenia |
ORPHA:448237 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
| Noonan Syndrome 4 |
|
Epicanthus, Sparse eyebrow, Bilateral ptosis, Blue irides, Downslanted palpebral fissures, Thromb... |
OMIM:610733 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia,... |
ORPHA:292 |
| Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo... |
OMIM:274150 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Acute Radiation Syndrome |
|
Cataract, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Stevens-Johnson Syndrome |
|
Entropion, Abnormality of neutrophils, Dyspnea, Corneal erosion, Thrombocytopenia, Restrictive ve... |
ORPHA:36426 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Entropion, Thrombocytopenia, Corneal erosion, Neutropenia, Restrictive vent... |
ORPHA:537 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Boutonneuse Fever |
|
Leukopenia, Respiratory failure, Thrombocytopenia |
ORPHA:83313 |
| Scheie Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity |
ORPHA:93474 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Apnea, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Hypo... |
OMIM:214110 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
| Pediatric-Onset Graves Disease |
|
Abnormal eyelid morphology, Keratitis, Neonatal asphyxia, Splenomegaly, Neutropenia in presence o... |
ORPHA:525731 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Thrombocytopenia |
ORPHA:169090 |
| Double Outlet Right Ventricle |
|
Narrow palpebral fissure, Tachypnea |
ORPHA:3426 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency |
OMIM:617397 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Long eyelashes, Short palpebral... |
ORPHA:79330 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... |
ORPHA:2330 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Braddock-Carey Syndrome 1 |
|
Telecanthus, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619980 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Recurrent pneumonia, Leukopenia, Neutropenia, Zonular cataract, T... |
OMIM:616271 |
| Gaucher Disease, Type Ii |
|
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Recurrent aspiration pneumonia, Anemia |
OMIM:230900 |
| Atelis Syndrome 2 |
|
Epicanthus, Dyspnea, Developmental cataract, Anemia, Dacryocystocele, Short palpebral fissure, Th... |
OMIM:620185 |
| Tangier Disease |
|
Corneal opacity, Hepatosplenomegaly, Anemia, Thrombocytopenia, Ectropion |
ORPHA:31150 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Kerati... |
ORPHA:906 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Thromb... |
OMIM:260400 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Epicanthus, Aplastic anemia, Thrombocytopenia, Persistence ... |
OMIM:617052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Sparse eyelashes, Nasolacrimal duct obstruction, Pterygium, Thromb... |
OMIM:224230 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Felty Syndrome |
|
Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Rhinitis, Neutropenia, Abnormal l... |
ORPHA:47612 |
| Joubert Syndrome 1 |
|
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregul... |
OMIM:213300 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| Serotonin Syndrome |
|
Tachypnea, Mydriasis |
ORPHA:43116 |
| Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Ebola Hemorrhagic Fever |
|
Dyspnea, Leukopenia, Cough, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea |
ORPHA:860 |
| Oculocerebrocutaneous Syndrome |
|
Eyelid coloboma, Corneal opacity, Iris coloboma, Ptosis |
ORPHA:1647 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia |
OMIM:185070 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia, Hyperventilation |
OMIM:618775 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Pulmonary arterial hypertension, Corneal opacity |
OMIM:607015 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Cataract, Corneal opacity, Thick eyebrow |
ORPHA:585 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Epicanthus, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
| Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis... |
OMIM:610377 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells... |
ORPHA:79124 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilatio... |
OMIM:209880 |
| Wilson Disease |
|
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia |
ORPHA:905 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Interstitial pneumonitis, Recurrent pneumonia, Thrombocytopenia |
OMIM:616433 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea, Mydriasis |
OMIM:613834 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ectropion, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Apnea, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Rabin-Pappas Syndrome |
|
Hypoventilation, Cataract, Highly arched eyebrow, Upslanted palpebral fissure, Tracheomalacia, Do... |
OMIM:620155 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity, Downslanted palpebral fissures |
ORPHA:2409 |
| Tangier Disease |
|
Splenomegaly, Ectropion, Opacification of the corneal stroma, Cicatricial ectropion |
OMIM:205400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
| Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Leukocytosis, Thrombocytopenia, Abnormal ... |
ORPHA:90051 |
| Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Acute respiratory distress syndrome, Cataract, Severe B lymphocytopenia, Thromb... |
OMIM:620005 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... |
ORPHA:141099 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, O... |
OMIM:612582 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Tachypnea, Cough, Megalocornea, Congenital aphakia |
ORPHA:137675 |
| Alport Syndrome 1, X-Linked |
|
Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thrombocytopenia |
OMIM:301050 |
| Cocaine Intoxication |
|
Respiratory distress, Mydriasis, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Keratoconjunctivitis, Opacification of th... |
OMIM:158310 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Epicanthus, Telecanthus, Thrombocytopenia, Hepatosplenomegaly, Stridor, Leu... |
ORPHA:505248 |
| Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... |
ORPHA:99106 |
| Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Splenomegaly, Thick eyebrow, Airway obstruction |
OMIM:253220 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Erythroid hypoplasia, Synophrys, Anemia, Horizontal eyebrow, Downslanted palpe... |
OMIM:620072 |
| Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Asthma, Synophrys, Respiratory insufficiency, Upslanted palpebral fi... |
ORPHA:488632 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:64743 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Decreased DLCO, Thrombocytopenia |
OMIM:613990 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
| Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ptosis, Epicanthus, Pure red cell aplasia, Erythroid hypoplasia, Developm... |
ORPHA:124 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology |
ORPHA:2095 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Arima Syndrome |
|
Dyspnea, Tachypnea, Anemia, Ptosis |
OMIM:243910 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:614576 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Upslanted palpebral fissure, Astigmatism, Increased mean corpuscular volum... |
ORPHA:261250 |
| Smith-Kingsmore Syndrome |
|
Downslanted palpebral fissures, Thrombocytopenia |
OMIM:616638 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Pulmonary arterial hyper... |
ORPHA:77259 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93399 |
| Pediatric Systemic Lupus Erythematosus |
|
Dyspnea, Leukopenia, Microangiopathic hemolytic anemia, Pleural effusion, Lymphopenia, Thrombocyt... |
ORPHA:93552 |
| Alg8-Cdg |
|
Thrombocytopenia, Cataract, Anemia |
ORPHA:79325 |
| Dubowitz Syndrome |
|
Epicanthus, Cataract, Telecanthus, Abnormality of neutrophils, Thrombocytopenia, Asthma, Respirat... |
ORPHA:235 |
| Orofaciodigital Syndrome Type 6 |
|
Epicanthus, Apnea, Episodic tachypnea, Highly arched eyebrow |
ORPHA:2754 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
| Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Microcornea,... |
OMIM:147791 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:259700 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
| Mucopolysaccharidosis, Type Ivb |
|
Restrictive ventilatory defect, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Dyspnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morpholog... |
ORPHA:464329 |
| Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Apnea, Splenomegaly, Cough |
ORPHA:579 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Highly arched eyebrow, Thrombo... |
OMIM:619005 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Ptosis, Bilateral ptosis, R... |
ORPHA:98915 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Pulmonar... |
ORPHA:464343 |
| Gm1 Gangliosidosis |
|
Splenomegaly, Corneal opacity, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:354 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Respiratory ... |
OMIM:612541 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Dyspnea, Chronic pulmo... |
ORPHA:324 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Epicanthus, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Ptosis |
OMIM:610188 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Absent lower eyelashes, Anemia |
OMIM:620370 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Thrombocytopenia, Cataract, Leukopenia |
ORPHA:974 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Blepharophimosis, Hypoventilation, Long eyelashes, Short palpebral fissure |
OMIM:606056 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:614230 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia |
OMIM:613658 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Apnea, Corneal opacity, Acute lymphoblastic leukemia, Downslanted palpebral... |
ORPHA:1052 |
| Castleman Disease |
|
Dyspnea, Anemia, Decreased mean corpuscular volume, Cough, Thrombocytopenia |
ORPHA:160 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:608013 |
| Hurler Syndrome |
|
Corneal opacity, Splenomegaly, Bilateral ptosis, Hepatosplenomegaly, Opacification of the corneal... |
OMIM:607014 |
| De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Emphysema, Downslanted palpebral fissures |
ORPHA:2962 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Epicanthus, Recurrent pneumo... |
OMIM:251260 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... |
ORPHA:508542 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Corneal scarring, Conjunctivit... |
OMIM:263700 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Hypoxemia, Neutropenia, Thrombocytopenia |
OMIM:308230 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Shigellosis |
|
Pneumonia, Leukocytosis, Conjunctivitis, Microangiopathic hemolytic anemia, Splenic abscess, Corn... |
ORPHA:810 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia |
OMIM:615758 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... |
OMIM:603553 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
| Mirage Syndrome |
|
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
ORPHA:364577 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia, Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Leukopenia, Rhinitis, Lymphope... |
ORPHA:319213 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Thrombocytopenia, Shallow orbits |
OMIM:612394 |
| Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... |
ORPHA:167 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Pulmonary embolism, Abnormal erythrocyte enzyme ... |
ORPHA:447 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Abnormality of the spleen, Throm... |
ORPHA:2072 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Overlap Myositis |
|
Pulmonary arterial hypertension, Thrombocytopenia, Leukopenia |
ORPHA:206572 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Hepatosplenomegaly, As... |
ORPHA:309282 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Loss of eyelashes, Keratoconjuncti... |
ORPHA:79277 |
| Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exertional dy... |
OMIM:233450 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Hurler Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity, Thick eyebrow |
ORPHA:93473 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Sinusitis, A... |
ORPHA:811 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Epicanthus, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short palpebral fissure, Almond-shaped palpebral fissure, Anemia, Downslanted palpebral fissures,... |
ORPHA:261323 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Epicanthus, Bilateral ptosis, Anemia |
OMIM:619743 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Thrombocytopenia, Restrictive v... |
OMIM:305000 |
| Q Fever |
|
Respiratory distress, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Cough, Pleur... |
ORPHA:781 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal eyelid morphology, Recurrent pneumonia, A... |
ORPHA:647 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Curly eyelashes, Highly arched eyebrow, Synophrys, Microcornea, Astigmatism, Long eyel... |
OMIM:122470 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Moebius Syndrome |
|
Epicanthus, Corneal opacity, Blepharitis, Ptosis |
ORPHA:570 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Bilateral ptosis, Respiratory insufficiency, Upslanted palpebral fissure, Downs... |
ORPHA:163979 |
| Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma |
OMIM:601853 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Posterior subcapsular cataract, Respiratory insufficiency, Restrictive ventilato... |
ORPHA:536471 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Neutrophilia, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Leukocytos... |
ORPHA:3260 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Splenomegaly, Synophrys, Upper airway obstruction, Opacification of th... |
ORPHA:581 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke... |
OMIM:557000 |
| Mosaic Trisomy 9 |
|
Asplenia, Upslanted palpebral fissure, Corneal opacity |
ORPHA:99776 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abn... |
ORPHA:2556 |
| Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Eosinophilia, Keratitis, Pulmonary arterial hypertension |
ORPHA:464 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Astigmatism, Aspiration pneumonia |
OMIM:619482 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea |
OMIM:613001 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Broad eyebrow, Thrombocytopenia |
ORPHA:457351 |
| Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Epicanthus, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticu... |
OMIM:105650 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Pneumonia, Anemia |
OMIM:603467 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Jacobsen Syndrome |
|
Epicanthus, Cataract, Ectropion, Microcornea, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma,... |
ORPHA:2308 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anem... |
OMIM:274000 |
| Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Pneumonia, Splenomegaly, Restrictive ventilatory defect, Pulmonary arterial hype... |
OMIM:253200 |
| Gaucher Disease |
|
Pancytopenia, Corneal opacity, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Pulmona... |
ORPHA:355 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Respiratory insufficiency, Buphthalmos, Ane... |
ORPHA:534 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Corneal ulceration, Corneal opacity, Ptosis |
OMIM:615273 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Opacification of the corneal stroma |
ORPHA:425 |
| Dyggve-Melchior-Clausen Disease |
|
Respiratory insufficiency due to muscle weakness, Corneal opacity |
ORPHA:239 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Cryptophthalmos |
ORPHA:920 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Chime Syndrome |
|
Epicanthus, Corneal opacity, Acute leukemia, Upslanted palpebral fissure, Ptosis |
ORPHA:3474 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Sarcoidosis |
|
Hemolytic anemia, Cataract, Eosinophilia, Dyspnea, Increased T cell count, Pneumothorax, Thromboc... |
ORPHA:797 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis ... |
ORPHA:495875 |
| Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Microcornea, Polysplenia, Opacification of the corneal stroma |
OMIM:201000 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity, Shallow orbits |
OMIM:601812 |
| Orofaciodigital Syndrome Type 2 |
|
Telecanthus, Tachypnea, Apnea |
ORPHA:2751 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Neutropenia in presence... |
ORPHA:391487 |
| Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
| Lysinuric Protein Intolerance |
|
Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Leukopenia, Hemophagocytosis, Anemia |
OMIM:222700 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphocytic interstitial pneumonia, Nonproductive cough, Leukopenia, Keratocon... |
ORPHA:289390 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... |
OMIM:263650 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Cataract, Abnormality of neutrophils, Abnormal eyelash morphology, T... |
ORPHA:1775 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia, Astigmatism |
OMIM:618493 |
| 22Q11.2 Deletion Syndrome |
|
Telecanthus, Cataract, Epicanthus, Abnormality of thrombocytes, Abnormal eyelid morphology, Splen... |
ORPHA:567 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Thrombocytopenia, Respiratory ... |
ORPHA:340 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
| Alg12-Cdg |
|
Epicanthus, Recurrent pneumonia, B lymphocytopenia, Chronic rhinitis, Thrombocytopenia |
ORPHA:79324 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
| Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea, Mydriasis |
ORPHA:466677 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Epicanthus, Neonatal respiratory distress, Thrombocytopenia, ... |
OMIM:619004 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Ogden Syndrome |
|
Epicanthus, Apnea, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ptosis, Pulmonary arteri... |
OMIM:300855 |
| Mucopolysaccharidosis, Type Iva |
|
Restrictive ventilatory defect, Recurrent pneumonia, Bronchoconstriction, Opacification of the co... |
OMIM:253000 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Cataract, Epicanthus, Brushfield spots, Upslanted palpebral fissur... |
OMIM:214100 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Epicanthus, Cataract, Abnormal eyelid morphology, Alm... |
ORPHA:84 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Neutropenia, Pulmonary arterial h... |
ORPHA:79282 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Blepharophimosis, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia |
ORPHA:77261 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
| Larsen Syndrome |
|
Tracheomalacia, Corneal opacity, Shallow orbits |
OMIM:150250 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
| Kindler Epidermolysis Bullosa |
|
Ectropion, Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol... |
ORPHA:2273 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Corneal stromal edema, N... |
ORPHA:699 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
| Van Den Ende-Gupta Syndrome |
|
Stridor, Abnormal eyebrow morphology, Sclerocornea, Blepharophimosis |
OMIM:600920 |
| Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
OMIM:608670 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia |
OMIM:300972 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... |
ORPHA:42775 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Sclerocornea |
OMIM:300952 |
| Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Splen... |
OMIM:188400 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Oculoectodermal Syndrome |
|
Epicanthus, Microcornea, Eyelid coloboma, Astigmatism, Opacification of the corneal stroma, Limba... |
OMIM:600268 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Keratitis, Ankyloblepharon, Opacification of th... |
ORPHA:910 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Cough |
ORPHA:464321 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Abnormal eyelid morphology, Chronic myelogenous leukemia, Lisch nodule... |
ORPHA:636 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Respiratory insufficiency, Opacification of the corneal stroma, Pulmonary arterial hyperte... |
OMIM:601559 |
| Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Bronchiectasis, Developmental cataract, Emphysema, Ptosis |
ORPHA:90348 |
| Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Thrombocytopenia |
ORPHA:93323 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
| Wilson Disease |
|
Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia |
OMIM:277900 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Splenomegaly, Upper airway obstruction, Hepatosplenomegaly, Restrictive ventilat... |
ORPHA:217085 |
| Kikuchi-Fujimoto Disease |
|
Palpebral edema, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Pleural ... |
ORPHA:50918 |
| Leptospirosis |
|
Respiratory distress, Cough, Pleural effusion, Thrombocytopenia, Conjunctival hyperemia |
ORPHA:509 |
| Caroli Syndrome |
|
Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Splenomegaly, Upper airway obstruction, Hepatosplenomegaly, Restrictive ventilat... |
ORPHA:217093 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Progressive pulm... |
ORPHA:77293 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ... |
OMIM:219000 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal nasal mucus secretion, Splenomegaly, Corneal opacity, Upper airway obstruction |
ORPHA:580 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Corneal opacity, Nocturnal lagophthalmos, Loss of eyelashes, Upper airway obstruc... |
ORPHA:740 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepa... |
ORPHA:731 |
| Prader-Willi Syndrome |
|
Almond-shaped palpebral fissure, Hypoventilation, Upslanted palpebral fissure, Iris hypopigmentation |
OMIM:176270 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Pneumonia, Dyspnea, Leukocytosis, Pleural empyema, Thrombocytopenia |
ORPHA:544482 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Pneumonia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615846 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Pulmonary arterial hypertension, Anemia |
ORPHA:2785 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Ptosis |
OMIM:251300 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Opacif... |
OMIM:614866 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Nonproductive cough, Neutrophilia in presence of infection, Leukope... |
ORPHA:99826 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Highly arched eyebrow |
OMIM:220111 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Megalocornea, Downslanted palpebral fissures, Ir... |
ORPHA:280 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
| Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Corneal opacity, Thrombocytopenia |
ORPHA:666 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Mucolipidosis Ii Alpha/Beta |
|
Epicanthus, Palpebral edema, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Opacification of ... |
OMIM:252500 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Abnormal eyelash morphology, Upslanted palpebral fissure, Dow... |
ORPHA:818 |
| Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma |
ORPHA:1692 |
| Acute Liver Failure |
|
Abnormal respiratory system physiology, Hypocapnia, Abnormal pattern of respiration, Thrombocytop... |
ORPHA:90062 |
| Brucellosis |
|
Pneumonia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosi... |
ORPHA:1304 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Pneumonia, Thrombocytopenia |
ORPHA:2298 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Epistaxis, Splenomegaly, Leukocytosis, Leukopenia, Conjunctivitis, Pu... |
ORPHA:99827 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Upslanted palpebral fissure, Peters anomaly, Short palpeb... |
ORPHA:709 |
| Lysinuric Protein Intolerance |
|
Thrombocytopenia, Respiratory insufficiency, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, An... |
ORPHA:470 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Punctate opacification of the cornea, Conjunctivitis, Recurrent ... |
OMIM:256040 |
| Truncus Arteriosus |
|
Tachypnea, Hypoplasia of the thymus |
ORPHA:3384 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Narrow palpebral fissure, Cataract, Sclerocornea |
OMIM:619869 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Chronic lymphatic leukemia, Hepatos... |
ORPHA:51 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Williams Syndrome |
|
Epicanthus, Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, ... |
ORPHA:904 |
| Fryns Syndrome |
|
Narrow palpebral fissure, Chylothorax, Polysplenia, Opacification of the corneal stroma, Blepharo... |
OMIM:229850 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Epicanthus, Juvenile myelomonocytic leukemia, Chylothorax, Down... |
OMIM:163950 |
| Roberts Syndrome |
|
Cataract, Thrombocytopenia |
ORPHA:3103 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia, Pulmonary art... |
ORPHA:71493 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Upslanted palpebral fissure, Pulmonary ... |
ORPHA:3472 |
| Liver Disease, Severe Congenital |
|
Epicanthus, Pneumonia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Cough, Status asthmaticus... |
OMIM:619991 |
| Hereditary Acrokeratotic Poikiloderma |
|
Ectropion, Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Entropion, Lagophthalmos, Synophrys, Upslanted palpebral fissure |
ORPHA:3455 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Eyelid coloboma, Opacification of the corneal stroma... |
OMIM:268300 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
| Hardikar Syndrome |
|
Lacrimal duct stenosis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:301068 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Almond-shaped palpebral fissure, Aspiration pneu... |
ORPHA:438213 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia |
OMIM:619525 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
| Cockayne Syndrome B |
|
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... |
OMIM:133540 |
| Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
| Cockayne Syndrome A |
|
Splenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Asthma, Central hypoventilation, Cardiorespiratory arrest |
ORPHA:293987 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Keratitis, Absent eyelashes, Opacification of the corneal stroma, Recurrent corne... |
OMIM:308205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
| Yunis-Varon Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Upslanted palpebral fissure... |
OMIM:216340 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Orbital cyst, Sclerocornea |
OMIM:607932 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
