Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, Death in childhood |
OMIM:200900 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension, Intrauterine growth retard... |
OMIM:619003 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Short ... |
OMIM:615631 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Cerebellar atrophy, Intrauterine ... |
ORPHA:89844 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situs inver... |
OMIM:615415 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab... |
ORPHA:90064 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Recurrent respiratory infections, Hypoplasia of the thymus, Death in c... |
OMIM:243150 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Mirage Syndrome |
|
Adrenal insufficiency, Petechiae, Lymphopenia, Cryptorchidism, Short stature, Aspiration pneumoni... |
OMIM:617053 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Recurrent pn... |
OMIM:619164 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... |
ORPHA:3226 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Pallor, Hepatosplenomegaly, Reticular pattern on... |
ORPHA:99931 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... |
ORPHA:848 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells,... |
OMIM:617241 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Pulmonary hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Neonatal death, Purpu... |
OMIM:608013 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr... |
ORPHA:3032 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... |
OMIM:601186 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia, Postnatal growth retardation, Intrauterine gr... |
OMIM:616733 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... |
ORPHA:507 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... |
OMIM:266200 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Short stature, Pallor, Paroxysmal atrial tachycardia,... |
ORPHA:49827 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Skin ulcer, Jaundice, Hypoparathyroidism, Adrena... |
ORPHA:231226 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus, Abnormality of the endocrine system |
OMIM:274210 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Cerebellar hypoplasia, Pancytopenia, Thrombocytopenia... |
OMIM:613839 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Enlarged kidney, ... |
OMIM:263200 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Disproportionate short-limb short stature, Pulmonary hypoplasia, Neonatal death |
OMIM:224410 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia, Cerebellar hypoplasia |
OMIM:615228 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Panhypogammaglobulinemia, Ventricular septal defect, Intrauterine g... |
ORPHA:84064 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia, Congestive heart f... |
ORPHA:163596 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... |
OMIM:614034 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Stillbirth, Redunda... |
OMIM:236500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra... |
ORPHA:331206 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... |
OMIM:612541 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease, Hypothyroidism, Maturity-onset diabetes of the young |
OMIM:268040 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypoplasia, Overriding aorta, Intr... |
OMIM:617022 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Abnormal pulmonary interstitia... |
OMIM:607616 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Short stature, Colpo... |
OMIM:609053 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Pulmonary hypoplasia, Death in infancy, Occipital encephalocele, Abnorm... |
OMIM:241800 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... |
ORPHA:98375 |
Alg3-Cdg |
|
Decreased liver function, Abnormality of the endocrine system, Hypoplasia of the pons, Neural tub... |
ORPHA:79321 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hematochezia, Skin ulcer, Recurrent intrapulmonary hemorrhage, Arrhythmia, ... |
ORPHA:906 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Hepatomegaly, Hypoplasia of the thymus, Death in childhood, Intr... |
OMIM:214110 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Atrial septal defect, Redundant skin, Pulmonary hypopl... |
ORPHA:2655 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormalit... |
ORPHA:33226 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... |
ORPHA:858 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Pulmonary insufficiency, Recurrent upper respiratory tract ... |
ORPHA:277 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, Hypoplastic left atrium |
OMIM:615524 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Short stature, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Hepatomegaly, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... |
OMIM:600462 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Hypoplastic spleen, Pancytopeni... |
ORPHA:699 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypop... |
ORPHA:2470 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Pallor, Excess... |
ORPHA:276556 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Splenomegaly |
ORPHA:3035 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... |
OMIM:611590 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Abnormality... |
ORPHA:300298 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Epistaxis, Autoimmune th... |
ORPHA:1959 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia, Death in infancy |
OMIM:256050 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... |
OMIM:608149 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Adrenal hypoplasia, Pulmonary hypoplasia |
OMIM:613124 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cerebellar hypoplasia, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertr... |
OMIM:616897 |
Truncus Arteriosus |
|
Ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, Cardiomegaly, A... |
ORPHA:3384 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Marden-Walker Syndrome |
|
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Dextrocardia, Pulmonary hypoplasia,... |
OMIM:248700 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Pulmonary hypoplasia, Decreased testicular size, Growth delay, Cryptorchidism, Abn... |
OMIM:300978 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Pallor, Excessive insulin response... |
ORPHA:324575 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... |
OMIM:613101 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure |
ORPHA:90037 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Growth d... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Short stature, Pallor, Anisocytosis, Poikilocytosis, E... |
ORPHA:98870 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Lymphadenopathy, Cardiomyopathy, Con... |
ORPHA:3386 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Eleva... |
OMIM:613490 |
Hydrocephalus With Associated Malformations |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:236640 |
Immunodeficiency 64 |
|
Increased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... |
OMIM:618534 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... |
ORPHA:90033 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Death in adolescence, Neonatal death, Pulmonary arterial hyperte... |
OMIM:619751 |
Immunodeficiency 36 |
|
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enla... |
OMIM:616005 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Aplasia/Hypoplasia of the lungs, Splenomegaly |
ORPHA:1046 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Hepatomegaly, Atrial septal defect, Splenomegaly, Short stature,... |
ORPHA:290 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... |
OMIM:233650 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Death in childhood, Cardiomegaly, Congestive ... |
OMIM:269920 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... |
ORPHA:3260 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Hodgkin Lymphoma |
|
Ataxia, Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Pagod Syndrome |
|
Hypoplastic left heart, Short stature, Sudden cardiac death, Abnormality of the spleen, Arrhythmi... |
ORPHA:991 |
Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
Ogden Syndrome |
|
Hydrocele testis, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Umbilical her... |
OMIM:300855 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil nuclei, Pulmonary h... |
ORPHA:250999 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Purpura, Asplenia, Short stature |
ORPHA:3204 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Anencephaly, Neonatal death, Hypoplastic nipples... |
OMIM:269860 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Pulmonary hypoplasia, Periportal fibrosis, Abnormal lung lobation |
OMIM:263210 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... |
OMIM:242700 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia, Agenesis of corpus callosum, Agenesis of cerebellar vermis |
OMIM:601160 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Gastroint... |
ORPHA:731 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood, Anemia, Hepatomegaly |
OMIM:246450 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Abnorma... |
ORPHA:3099 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Tachycardia, Pancreatic islet-cell hyper... |
ORPHA:276608 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi... |
ORPHA:90051 |
Tetrasomy 5P |
|
Congestive heart failure, Cerebellar hypoplasia, Heart murmur, Pulmonary hypoplasia, Postnatal gr... |
ORPHA:3309 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Decreased circulating IgA lev... |
OMIM:606367 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal defect, Hepatitis, Type I diabet... |
ORPHA:436252 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosi... |
OMIM:231680 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Short stature, Hyp... |
OMIM:208900 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of Fallot, Ventricu... |
ORPHA:1335 |
Greenberg Dysplasia |
|
Disproportionate short-limb short stature, Hepatomegaly, Hepatic calcification, Hepatosplenomegal... |
OMIM:215140 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Patent foramen ovale |
OMIM:616867 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Hem... |
ORPHA:1572 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Leukopenia, Dry skin, Rhizomelia, Decreased circulating antibody level, Bone marro... |
OMIM:618116 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Dandy-Walker malformation, Splenomegaly, Occipital encephaloc... |
OMIM:249000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Decreased specific antibody response to vaccination, Type I diabetes mellitus,... |
OMIM:614700 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Short stature |
ORPHA:93296 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Con... |
ORPHA:40366 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Abnormal pulmonary artery morp... |
ORPHA:2257 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Disproportionate short-trunk short stature, Enlarged kidney, Pulmonary... |
OMIM:608022 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T... |
ORPHA:35858 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Impaired T cell function, Abnormality of the tonsils, Ventricu... |
ORPHA:567 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Odontochondrodysplasia 1 |
|
Short stature, Pulmonary hypoplasia, Death in infancy, Mesomelic short stature, Recurrent respira... |
OMIM:184260 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Pulmonary hypoplasia, C... |
ORPHA:86822 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Decreased circulating IgG level, Tricuspid regurgitation, Decreas... |
OMIM:619705 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... |
ORPHA:137675 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Short stature, Thrombocytopenia, Reduced natural killer cell activity, Pancytopenia... |
OMIM:616050 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Miscarriage, Decreased response to growth hormone stimulation test, Hypothyroidism, Pulmonary hyp... |
ORPHA:96179 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... |
OMIM:613500 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Pulmonary hypoplasia, Extra... |
OMIM:200995 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Hypoplasia of the pons, Cerebellar hypoplasia, Pulmonary hypoplasia, Cerebellar atro... |
OMIM:619708 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Transaldolase Deficiency |
|
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Biventricular hypertrophy, P... |
ORPHA:101028 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Short stature |
OMIM:602361 |
Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart |
OMIM:312150 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Palpitations, Abnormal mean corpusc... |
ORPHA:86839 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Cryptorchidism, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Anencephaly, Pulm... |
OMIM:619148 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Aplastic anemia, Reticular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Mye... |
OMIM:614742 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, D... |
ORPHA:85212 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Palpitatio... |
ORPHA:2847 |
Thanatophoric Dysplasia, Type I |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia, Neonatal death, Lethal short-lim... |
OMIM:187600 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:253310 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Fetal Akinesia Deformation Sequence |
|
Intrauterine growth retardation, Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation |
ORPHA:994 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... |
ORPHA:980 |
Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Short stature, Recurrent lower respi... |
OMIM:253250 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cerebellar hypopla... |
OMIM:618886 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... |
OMIM:612840 |
Serkal Syndrome |
|
Pulmonic stenosis, Abnormality of the adrenal glands, Ventricular septal defect, Pulmonary hypopl... |
ORPHA:139466 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Short stature, Recurrent upper respiratory tract infections... |
ORPHA:508542 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Mild intrauterine growth retardation, Abnormal cardiac septum morphology, Short stature, Single v... |
OMIM:308050 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... |
ORPHA:398124 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Pleur... |
ORPHA:47612 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... |
OMIM:102700 |
Minicore Myopathy With External Ophthalmoplegia |
|
Pulmonary hypoplasia, Recurrent respiratory infections |
OMIM:255320 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, H... |
OMIM:270400 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Mosaic Trisomy 1 |
|
Cerebellar hypoplasia, Pulmonary artery atresia, Ventricular septal defect, Lateral ventricle dil... |
ORPHA:1692 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart |
OMIM:253290 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Decreased circulating antibody level, Pancytopenia, T... |
ORPHA:90045 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Jaundice, Inappropriate antidiuretic hormone secretion, Pulmonary hemorrhage, Hepat... |
ORPHA:79124 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Central adrenal insufficiency, Hypogonadism, Central diabetes in... |
ORPHA:91349 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Skin ulcer, Increased circu... |
ORPHA:217390 |
Primary Ciliary Dyskinesia |
|
Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary venous return, Poly... |
ORPHA:244 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Abnormal... |
ORPHA:77259 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short stature, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency, Pulmonary ... |
OMIM:208500 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... |
OMIM:301078 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Stormorken Syndrome |
|
Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Elevated hepatic transaminase, Purpura, Ne... |
OMIM:604250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia, Pneumonia, Panhypogammaglobulinemia |
OMIM:601457 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... |
OMIM:606003 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... |
OMIM:230800 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Meckel Syndrome, Type 6 |
|
Anencephaly, Hepatic cysts, Absent gallbladder, Pulmonary hypoplasia, Hepatic fibrosis, Bilobed r... |
OMIM:612284 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Pulmonary hypoplasia, Umbilical hernia, Intrauterine growth retardation, Abnormal ... |
OMIM:612289 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Short stature |
ORPHA:1486 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Short stature, Cerebellar hypoplasia, Ventricular septal defect, Pulmonary ... |
OMIM:612530 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Enlarged kidney, Situs inversus totalis, Pulmonary hypoplasia, Hypertension |
OMIM:602088 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia... |
ORPHA:20 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Unilateral cryp... |
OMIM:618280 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Tarp Syndrome |
|
Atrial septal defect, Extramedullary hematopoiesis, Cerebellar hypoplasia, Tetralogy of Fallot, P... |
ORPHA:2886 |
Caudal Regression Syndrome |
|
Maternal diabetes, Arrhinencephaly, Pulmonary hypoplasia, Chiari malformation, Hypertension, Cryp... |
ORPHA:3027 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Severe short stature, Cryptorchidism, Pulmonary hypoplasia, Encephalocele, Abnormal ... |
ORPHA:1865 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Pulmonary arterial hypertension, Abnormal eosinophil morphology, Emphysema |
ORPHA:1164 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cryptorchidism, Neonatal death, Cholestasis, Hypothyroidi... |
OMIM:608104 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Death in childhood, Ventricular septal defect, Adrenal hypoplasia, Pulmonary hypopl... |
OMIM:214100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... |
OMIM:618278 |
Distal Tetrasomy 15Q |
|
Hydrocele testis, Atrial septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, Da... |
ORPHA:314588 |
Congenital Tracheomalacia |
|
Atrial septal defect, Cutis laxa, Single ventricle, Recurrent upper respiratory tract infections,... |
ORPHA:95430 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphocytosis, Le... |
OMIM:619652 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Neu-Laxova Syndrome |
|
Lack of skin elasticity, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Pulmonary ... |
ORPHA:2671 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Short stature, Bone-marrow foam cells, Cardio... |
OMIM:256550 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Pulmonary hypoplasia, Agenesis of corpus callosum, Secundum atrial septal... |
OMIM:202650 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Dandy-Walker malformation, Abnormal liver lobulation, Abnormal lung lobatio... |
ORPHA:99776 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Fumarase Deficiency |
|
Hepatic failure, Polycythemia, Pallor, Cholestasis, Agenesis of corpus callosum |
OMIM:606812 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Neu-Laxova Syndrome 1 |
|
Stillbirth, Short umbilical cord, Cerebellar hypoplasia, Hydranencephaly, Small placenta, Ventric... |
OMIM:256520 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Tricuspid regur... |
ORPHA:79328 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology,... |
ORPHA:39041 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Patent foramen ovale, Cardiomyopathy, Conges... |
OMIM:616866 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Pulmonary artery stenosis, Splenomegaly, Pallo... |
ORPHA:667 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs... |
ORPHA:2570 |
Prolidase Deficiency |
|
Increased circulating antibody level, Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomega... |
OMIM:170100 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Single ventricle, Mitral regurgitation, Hepatic fibrosis, Pulmonary hypo... |
OMIM:619879 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Decreased circulating IgG lev... |
OMIM:620005 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Short stature, Abnormal aortic valve morphology, Spina bifida occulta, Pulmonary hypoplasia, Umbi... |
ORPHA:2990 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... |
OMIM:611490 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
Fryns Syndrome |
|
Atrial septal defect, Chylothorax, Ectopic pancreatic tissue, Arrhinencephaly, Ventricular septal... |
OMIM:229850 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Death in infancy,... |
OMIM:618839 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis laxa, Pulmonary hypoplasia, Patent foramen ovale, Umbilical hernia, Emphysema, Growth delay... |
OMIM:613177 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Hepatomegaly, Hepatoblastoma, Atrial septal defect, Cutis laxa, Postnatal growth ret... |
ORPHA:96334 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Decreased circulating cortisol level, Neonatal death, Death in infancy,... |
OMIM:618835 |
Q Fever |
|
Hepatomegaly, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Increased circulating antibo... |
ORPHA:781 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Hepatomegaly, Cirrhosis, Left vent... |
ORPHA:57777 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy, Irritability |
OMIM:257200 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Cryptorchidism, Decreased circulating total IgM, Severe B lymphocyt... |
ORPHA:83617 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, ... |
ORPHA:464329 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Pulmonary hypoplasia, Short stature |
OMIM:614091 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,... |
ORPHA:227982 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Thromb... |
OMIM:227645 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmon... |
ORPHA:227990 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Atrial septal defect, Maternal diabetes, Ventricular septal defect, Pu... |
ORPHA:1708 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Chiari malformation, Aplasia/Hy... |
ORPHA:3305 |
Rhabdoid Tumor |
|
Lymphadenopathy, Irritability |
ORPHA:69077 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Digeorge Syndrome |
|
Cholelithiasis, Hydrocele testis, Ovarian cyst, Impaired T cell function, Ventricular septal defe... |
OMIM:188400 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Short stature, Hepatic failure, Cirrhosis, Portal hypertension, Emphysema |
OMIM:210050 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Anomalo... |
ORPHA:99050 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes |
ORPHA:543 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Short umbilical cord, Cerebellar hypoplasia, Small placenta, Pulmonary hypoplasia, Cr... |
OMIM:208150 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
Hypophosphatasia |
|
Anemia, Short stature, Emphysema |
ORPHA:436 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hypoplastic nipples, Dextrocardia, Pulmonary hypoplasia, ... |
ORPHA:2437 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary artery stenos... |
OMIM:611812 |
Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:251230 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension |
ORPHA:134 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Cryptorchidism, Short stature, Ventricular septal defect, Complete atrioven... |
OMIM:617063 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper... |
OMIM:252920 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Pleural effusion, Emphysema, Abnormal heart valve morphology, Lymphad... |
ORPHA:36412 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Pulmonary edema, Hepatomegaly, Myofiber disarra... |
OMIM:115197 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an... |
OMIM:618108 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Arrhinencephaly, ... |
OMIM:156810 |
Genitopatellar Syndrome |
|
Atrial septal defect, Short stature, Pulmonary hypoplasia, Cryptorchidism, Agenesis of corpus cal... |
ORPHA:85201 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... |
OMIM:618969 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary hypop... |
OMIM:145420 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature |
ORPHA:2725 |
Degcags Syndrome |
|
Hepatomegaly, Cholestasis, Ventricular septal defect, Pneumonia, Pancytopenia, Intrauterine growt... |
OMIM:619488 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Dry skin, Pericarditis, Acute pan... |
OMIM:619487 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:207620 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Renal Dysplasia-Limb Defects Syndrome |
|
Maternal diabetes, Neonatal death, Pulmonary hypoplasia, Pneumothorax, Cryptorchidism, Intrauteri... |
OMIM:266910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in childhood, Elevated hepatic transaminase, Death in infancy, Pulmonary arte... |
OMIM:619064 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Severe short stature, B lymphocytopenia |
OMIM:619851 |
Dpagt1-Cdg |
|
Abnormal cerebellum morphology, Hepatomegaly, Intracranial hemorrhage, Cerebellar hypoplasia, Ele... |
ORPHA:86309 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Bronchiolitis obliterans, Decreased circulating IgE, Decreased c... |
OMIM:300755 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia |
ORPHA:85166 |
Al Amyloidosis |
|
Abnormal heart morphology, Increased circulating antibody level, Abnormal cardiac ventricle morph... |
ORPHA:85443 |
Rh Deficiency Syndrome |
|
Hypochromia, Miscarriage, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia,... |
ORPHA:71275 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Bronchitis, Patent foramen ovale,... |
OMIM:601005 |
Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:958 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Brain abscess, Myocarditis, Hemolytic anemia... |
ORPHA:544482 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Atrial septal defect, Congenital hypoplastic anemia, Tricuspid stenosis... |
OMIM:105650 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... |
ORPHA:124 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentration,... |
ORPHA:465508 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Rhizomelia, Neonatal short-trunk short stature, Pulmonary hy... |
ORPHA:1190 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Polycythemia, Pallor, Palpitations,... |
ORPHA:892 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Polysplenia, Asplenia |
OMIM:612776 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonary hypoplasia, Cryptorchidism, Ag... |
ORPHA:2059 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature |
ORPHA:474 |
Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Right ventricular hypertrophy, Right ventricular failure, Emphysema, Abn... |
ORPHA:70589 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic transaminase, Cardio... |
OMIM:617713 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Ce... |
OMIM:263520 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Death in infancy, Pre... |
OMIM:601559 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Type I diabetes mellitus, Abnormality of the endocrine system, Renovascular hy... |
ORPHA:391487 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Ane... |
OMIM:227646 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Recurrent streptococcus pneumoniae infections, Coombs-posi... |
ORPHA:83471 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hyperte... |
OMIM:603903 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Short stature |
OMIM:615503 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm o... |
ORPHA:83469 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Type I diabetes mellitus, Pancytopenia, Bone marrow hypocellularity, Skin ulcer, Sp... |
OMIM:615688 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage morphology, Myocardit... |
ORPHA:292 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Budd-Chiari sy... |
ORPHA:284 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... |
ORPHA:100026 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Myocardial infarction, ... |
ORPHA:60033 |
Restrictive Dermopathy 1 |
|
Intrauterine growth retardation, Atrial septal defect, Short umbilical cord, Neonatal death, Adre... |
OMIM:275210 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mit... |
ORPHA:77261 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Disproportionate short-trunk short stature |
OMIM:200600 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology |
ORPHA:1548 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Intrauterine growth retard... |
OMIM:615846 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Disproportionate short stature, Umbilical ... |
ORPHA:93298 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
Oligomeganephronia |
|
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Branchial cyst, ... |
ORPHA:2260 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Umbilical hernia |
ORPHA:932 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Secundum atrial septal defect, Dandy-Walker malformation, Sho... |
OMIM:264090 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Medullary thyroid carcinoma, Hypertension associated with pheochromocytoma... |
ORPHA:653 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature |
ORPHA:2145 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia |
OMIM:601086 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Cerebellar hypoplasia, Rhizomelia, Pulmonary hypoplasia, Encephalocele, Dandy-Wal... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, ... |
OMIM:617925 |
Schnitzler Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Tetrasomy 9P |
|
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Jaundice, Cryptorchidism, R... |
ORPHA:3310 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Short stature, Aplasia/Hypoplasia of the cer... |
ORPHA:818 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Pallor, Tachycardia, Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:348 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Thrombocytopenia, P... |
OMIM:600901 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|