Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Death in infancy, Pulmonary hypoplasia, Congestive he... |
OMIM:614096 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Death in childhood, Lymphopenia |
OMIM:200900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Redundant neck skin, Neonatal death, Intra... |
OMIM:619003 |
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, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, ... |
OMIM:615631 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Cerebellar atrophy, Hypoplastic spleen, Intrauterine ... |
ORPHA:89844 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le... |
ORPHA:90064 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Abnormal lung lobation, Malforma... |
OMIM:615415 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia |
OMIM:615228 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly, Pallor |
ORPHA:228312 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ventricular septal defect, Death in infancy, Decreased circulating anti... |
OMIM:243150 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Mirage Syndrome |
|
Leukopenia, Anemia, Aspiration pneumonia, Short stature, Petechiae, Adrenal insufficiency, Decrea... |
OMIM:617053 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly,... |
ORPHA:99931 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, ... |
ORPHA:231222 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Intracranial hemorrhage, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone... |
ORPHA:3226 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Hypertrophic cardiomyopathy, Growth ... |
OMIM:613561 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,... |
ORPHA:848 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... |
OMIM:619164 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Dandy-Walke... |
ORPHA:3032 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Anemia, Petechiae, Purpura, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatomega... |
OMIM:608013 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Pulmonary hypoplasia, Hepa... |
OMIM:208540 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Pulmonary hypoplasia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia |
OMIM:616531 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Skin ul... |
ORPHA:507 |
Primary Myelofibrosis |
|
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Pancytopenia, Hepatosplenomegaly, Poiki... |
ORPHA:824 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia, Intrauterine growth retardation... |
OMIM:616733 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Bilateral lung agenesis, Short stature, Truncus arteriosus, Pulmon... |
OMIM:601186 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Paroxysmal atrial tachycardia, Short stature, Ventricular septal defect, Ca... |
ORPHA:49827 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Cholecystitis, Chronic he... |
OMIM:266200 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular carcinoma, Sk... |
ORPHA:231226 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Growth delay, He... |
OMIM:615234 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, ... |
ORPHA:231214 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pallor, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Spleno... |
ORPHA:163596 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Hepatomegaly, Peripheral pulmonary arte... |
ORPHA:84064 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Epistaxis, Thrombocytopenia, Hypoplastic sp... |
OMIM:185070 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Cerebellar hypoplasia, Pulmonary hypoplasia, Redundant neck skin, Hydranencephaly, Stillbirth, Ne... |
OMIM:236500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... |
OMIM:612541 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane... |
ORPHA:822 |
Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly |
OMIM:619126 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Hypoplasia of the thymus, Cutis laxa, Death in infancy, Pulmonary hypoplasi... |
OMIM:613177 |
Niemann-Pick Disease, Type B |
|
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Short stature, Bone-m... |
OMIM:607616 |
Acute Myelomonocytic Leukemia |
|
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Immunodeficiency 102 |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... |
OMIM:301082 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Pulmonary hypoplasia, H... |
OMIM:263200 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Hypothyroidism, Decreased response to growth hormone stimulation test, Chia... |
OMIM:609053 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of an... |
OMIM:607594 |
Pallister-Hall-Like Syndrome |
|
Short stature, Death in infancy, Anterior hypopituitarism, Pulmonary hypoplasia, Chiari type I ma... |
OMIM:241800 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte morphology, Sp... |
ORPHA:98375 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Skin ulcer, Hematemesis, Thrombocytopenia, Purpur... |
ORPHA:906 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:617468 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia, Hypoplasia of the pons, Decreased liver function, Abnor... |
ORPHA:79321 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276575 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Abnormal heart morphology, H... |
OMIM:214110 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... |
ORPHA:33226 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Cryptorchidism, Pulmonary hypoplasia, Ventricular septal defect |
OMIM:615524 |
Congenital Toxoplasmosis |
|
Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thr... |
ORPHA:858 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Cerebellar hypoplasia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increa... |
OMIM:613839 |
Thanatophoric Dysplasia |
|
Pulmonary hypoplasia, Atrial septal defect, Redundant skin, Disproportionate short-limb short sta... |
ORPHA:2655 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus, Hyperinsulinemic hypoglyc... |
ORPHA:276580 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent foramen ovale, Double outlet right ventricle, Recurrent respiratory infections, Ventricula... |
OMIM:618316 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Short stature, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Splenomegaly, Myeloid leukemia, Increased basophil count, Ch... |
ORPHA:98849 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Short stature, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Ventricular septal defect, Death in infancy,... |
OMIM:608978 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... |
ORPHA:2133 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Autoimmune th... |
ORPHA:1959 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Overridi... |
OMIM:617022 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophi... |
ORPHA:276556 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Pulmonary hypop... |
ORPHA:2470 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hypogonadism, Adrenal insuff... |
ORPHA:300298 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia, Splenomegaly, Intrauterine growth retardation |
ORPHA:3035 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Hepatic st... |
ORPHA:699 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Splenomegaly, Ventricular septal defect, Pulmonary hypoplasia, A... |
OMIM:608149 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cerebellar hypoplasia, Pulmonary hypoplasia, Pleural effusion, Hypertr... |
OMIM:616897 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia, Stillbirth, Death in infancy |
OMIM:256050 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Syncope, Maternal diabetes, Hyperinsulinemic hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery... |
ORPHA:3384 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... |
OMIM:618986 |
Marden-Walker Syndrome |
|
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Pulmon... |
OMIM:248700 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopen... |
ORPHA:277 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent foramen ovale, Periportal fibrosis, Ventricular septal defect, Anencephaly, Pulmonary hypo... |
OMIM:269860 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90037 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Decreased testicular size, Pulmonary hypoplasia, Growth delay, Abnormal heart morp... |
OMIM:300978 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal pulmonary interstitial morphology, Anemia, Abnormal natural killer cell physiology, Decr... |
OMIM:613101 |
American Trypanosomiasis |
|
Congestive heart failure, Pallor, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenom... |
ORPHA:3386 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, Lymphadenopathy, Ab... |
OMIM:150550 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Short stature, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:98870 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Pallor, Autoimmune ... |
ORPHA:90033 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Elevated hepatic transaminase, Congestive hear... |
OMIM:613313 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Anemia, Splenomegaly |
ORPHA:1046 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Hypopituitarism, Erythroid hyperplasia, Pallor, Delaye... |
OMIM:600462 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Defective T cell proliferation, Increased circulating IgG level, Decreased propor... |
OMIM:618534 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Short stature, Bronchiectasis, Increased proportion of transitional B... |
OMIM:616005 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepatosp... |
ORPHA:3260 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Short stature, Death in infancy |
OMIM:602361 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hepatomegaly, Cardiomegaly, Death in childhood, Vacuolated lymphocytes,... |
OMIM:269920 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Pulmonary hypoplasia, Abnormal lung lobation, Periportal fibrosis |
OMIM:263210 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Short stature, Jaundice, Abnormality of the pulmonary artery, ... |
ORPHA:290 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Ataxia |
ORPHA:98293 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall... |
OMIM:300908 |
Pagod Syndrome |
|
Sudden cardiac death, Meningocele, Encephalocele, Short stature, Death in infancy, Spina bifida, ... |
ORPHA:991 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Pulmonary hypoplasia, Hyposegmentation of neutrophil nuclei, Growth delay, Hypergo... |
ORPHA:250999 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura, Short stature |
ORPHA:3204 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Death in childhood, Hepatomegaly, Pallor |
OMIM:246450 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Petechiae, Jaundice, Purpura, Pallor, Tachycardia, Hepatomegaly, Leukocytosi... |
ORPHA:90051 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... |
OMIM:242700 |
Rheumatic Fever |
|
Endocarditis, Abnormal pleura morphology, Abnormal mitral valve morphology, Abnormal aortic valve... |
ORPHA:3099 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Tachy... |
ORPHA:276608 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, S... |
ORPHA:731 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Heart murmur, Cerebellar hypoplasia, Pulmonary hypoplasia, Conge... |
ORPHA:3309 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... |
OMIM:615285 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pulmonary hypoplasia, Severe short stature, Disproportionate short-limb short stature, Cryptorchi... |
OMIM:224410 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Double outlet right ventricl... |
ORPHA:185 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... |
OMIM:606367 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Short stature, Bronchiectasis, ... |
OMIM:208900 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, An... |
ORPHA:1335 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Ventricular septal defect, Hepatitis, Type I diabet... |
ORPHA:436252 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618852 |
Greenberg Dysplasia |
|
Rhizomelia, Abnormal lung lobation, Pulmonary hypoplasia, Hepatosplenomegaly, Disproportionate sh... |
OMIM:215140 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Impaired T cell functi... |
ORPHA:567 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Pulmonary hypoplasia, Hepatic steatosis, Hepatomegaly, Neonatal death, Hepatic periport... |
OMIM:231680 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Bone marrow ... |
OMIM:618116 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Elevated hepatic transaminase, Hepatocellular carcinoma, Congestive he... |
OMIM:235200 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Recurrent respir... |
ORPHA:2257 |
Meckel Syndrome, Type 1 |
|
Asplenia, Dilated fourth ventricle, Chiari malformation, Abnormal cardiac septum morphology, Cere... |
OMIM:249000 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Odontochondrodysplasia 1 |
|
Short stature, Death in infancy, Pulmonary hypoplasia, Mesomelic short stature, Recurrent respira... |
OMIM:184260 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Thrombocytopeni... |
OMIM:614700 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Hypoplasia of the thymus, Con... |
ORPHA:40366 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Short stature |
ORPHA:93296 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Pulmonary hypoplasia, Intrauterin... |
ORPHA:86822 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Abs... |
OMIM:613501 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Short stature, D... |
OMIM:616050 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Elevated hepatic tra... |
OMIM:557000 |
Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Double outlet right ventricle, Bronchiectasis, Polysplenia... |
ORPHA:244 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Pulmonary hypoplasia, Disproportionate short-trunk sh... |
OMIM:608022 |
Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:312150 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Thanatophoric Dysplasia, Type I |
|
Lethal short-limbed short stature, Disproportionate short-limb short stature, Neonatal death, Pul... |
OMIM:187600 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pulmonary hypoplasia, Pancreatic fibrosis, Hepato... |
OMIM:200995 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpitations, Bone ... |
ORPHA:86839 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocy... |
OMIM:619705 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Histiocytosis, Lymphadenopathy, Throm... |
OMIM:209950 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Pallor, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation, Intrauterine growth retardation |
ORPHA:994 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, ... |
ORPHA:96179 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Anencephaly, Agenesis of corpus callosum, Left ventricular hypertro... |
OMIM:619148 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... |
OMIM:615518 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Anemia, Myeloid leukemia, Usual interstitial pneumonia, Reticular pattern on pulmonary... |
OMIM:614742 |
Transaldolase Deficiency |
|
Cirrhosis, Telangiectasia, Anemia, Premature skin wrinkling, Atrial septal defect, Hepatosplenome... |
ORPHA:101028 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... |
OMIM:233650 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum morphology, Pu... |
ORPHA:980 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Cerebellar hypoplasia, Pulmonary hypoplasia, Lymphopenia, Interstitial emphysema,... |
OMIM:619708 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Mulibrey Nanism |
|
Pericardial constriction, Short stature, Congestive heart failure, Myocardial fibrosis, Growth de... |
OMIM:253250 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Growth delay, Abnormality of the adrenal glands,... |
ORPHA:139466 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Pallor, Eosinophilia, T... |
ORPHA:90045 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Pneumonia, H... |
OMIM:226990 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... |
ORPHA:2847 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Pulmonary hypoplasia, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatom... |
OMIM:270400 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Death in infancy, Cerebellar hypoplasia, Hypertension... |
OMIM:618886 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Petechiae, Hepatosplenomegaly, Epistaxis, Hepatomegaly, E... |
OMIM:612840 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Elevated hepa... |
ORPHA:158057 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Enlarged kidney, Pulmonary hypoplasia, Dextrocardia, Neonatal deat... |
OMIM:314390 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Mild intrauterine growth retardation, Short stature, Abnormal cardiac septum morphology, Pulmonar... |
OMIM:308050 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Adrenal insufficiency, Anterior hypopituitarism, Increased circulating gonadotropin ... |
ORPHA:91349 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... |
OMIM:278000 |
Felty Syndrome |
|
Anemia, Neutropenia, Pleuritis, Recurrent pharyngitis, Pericarditis, Recurrent pneumonia, Lymphad... |
ORPHA:47612 |
Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:253290 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent respiratory infections, Decreased circulating total IgM, Ab... |
OMIM:613500 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Enlarged kidney, Hypertension, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:602088 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Short stature, Reticulocytopenia, B lymphocytopeni... |
ORPHA:508542 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Decreased circulating... |
ORPHA:1572 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hypoplasia, Pulmonary hypopla... |
ORPHA:1692 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Hepatomegaly, Eosinophilia, Elevated proportion of CD4-negative... |
OMIM:603909 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, Panhypogammaglobulinemia, T lym... |
ORPHA:79124 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pericardial effusion, Pancytopenia, Aut... |
OMIM:613011 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Type I di... |
OMIM:619707 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Skin ulcer, Recurrent sinusitis, Pneumonia, Recurrent respi... |
ORPHA:217390 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Death in infancy |
OMIM:612782 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... |
OMIM:614069 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Abnormal pulmonary interstitial morpholog... |
ORPHA:77259 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Recurrent lower re... |
OMIM:615966 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated... |
ORPHA:20 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... |
OMIM:300751 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Anemia, Hypersplenis... |
OMIM:230800 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Short stature, Death in infancy, Jau... |
OMIM:208500 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid ... |
OMIM:616860 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Pulmonary hypoplasia, Miscarriage, Severe short stature, Abnormal heart morphology... |
ORPHA:1865 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:319487 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... |
ORPHA:860 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Short stature |
ORPHA:1486 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Tarp Syndrome |
|
Cerebellar hypoplasia, Pulmonary hypoplasia, Atrial septal defect, Cryptorchidism, Extramedullary... |
ORPHA:2886 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic fibrosis, Anencephaly, Pulmonary hypoplasia, Bilobed right lung, Bile... |
OMIM:612284 |
Transaldolase Deficiency |
|
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Anemia, Ventricular septal def... |
OMIM:606003 |
Fontaine Progeroid Syndrome |
|
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Tricuspid regurgitation, Abse... |
OMIM:612289 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated hepatic transaminase, Purpura, Lymphopenia, Hypogonadotropic hypogona... |
OMIM:604250 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia, Agenesis of corpus c... |
OMIM:202650 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature, Cerebellar hypoplasia, Supernumerary nipple, Pulmonary ... |
OMIM:612530 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Biventricular... |
OMIM:618280 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Short stature, Circulating nucleate... |
OMIM:613673 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Anemia, Death in infancy, Perimembranous ventricular septal defect, Cholestasis, ... |
OMIM:608104 |
Distal Tetrasomy 15Q |
|
Pulmonary hypoplasia, Atrial septal defect, Hydrocele testis, Abnormal heart morphology, Intraute... |
ORPHA:314588 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Secundum atrial septal defect, Congestive heart failure, Pulmonary hypoplas... |
OMIM:616866 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Rhizomelia, Pulmonary hypoplasia, Stillbirth, Neonatal short-limb short stature |
OMIM:151210 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Pulmonary hypoplasia, Redundant neck skin, Intrahepatic biliary dysgen... |
OMIM:214100 |
Neu-Laxova Syndrome |
|
Lack of skin elasticity, Hypogonadism, Cerebellar hypoplasia, Spina bifida, Abnormal cerebellar v... |
ORPHA:2671 |
Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Pneumothorax, Ventricular septal defect, Bronchiectasis, Cutis l... |
ORPHA:95430 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Caudal Regression Syndrome |
|
Chiari malformation, Arrhinencephaly, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Cryp... |
ORPHA:3027 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... |
OMIM:612692 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Hepatic fibrosis, Anemia, Hypothyroidism, ... |
OMIM:620005 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Short stature, Hypogonadism, Abnormal aortic valve morphology, Pulmonary hypoplasia, Spina bifida... |
ORPHA:2990 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:251230 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Alg9-Cdg |
|
Periportal fibrosis, Rhizomelia, Ventricular septal defect, Pericardial effusion, Enlarged kidney... |
ORPHA:79328 |
Fumarase Deficiency |
|
Hepatic failure, Polycythemia, Pallor, Cholestasis, Agenesis of corpus callosum |
OMIM:606812 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Fryns Syndrome |
|
Ventricular septal defect, Polysplenia, Arrhinencephaly, Agenesis of corpus callosum, Pulmonary h... |
OMIM:229850 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Ventricular septal defect, Spina bifida, Abnormal lung lobat... |
ORPHA:99776 |
Neuraminidase Deficiency |
|
Short stature, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Spleno... |
OMIM:256550 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Pallor, Lymphadenopathy, Abnormal pulmonary valve morpho... |
ORPHA:667 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Recurrent sinusitis, Hepatic steato... |
OMIM:188400 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs... |
ORPHA:2570 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Death in infancy, Decreased circulating cortisol level, Decreased liver function, Neonata... |
OMIM:618839 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Mitral regurgitation, Single ventricle, Occ... |
OMIM:619879 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
ORPHA:70593 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Death in infancy, Decreased circulating cortisol level, Hypertrophic cardiomyopathy, Decr... |
OMIM:618835 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Omenn Syndrome |
|
Hypothyroidism, Anemia, Thyroiditis, Lymphadenopathy, Dry skin, Hepatomegaly, Eosinophilia, Leuko... |
ORPHA:39041 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Prolidase Deficiency |
|
Anemia, Petechiae, Increased circulating antibody level, Skin ulcer, Elevated circulating asparta... |
OMIM:170100 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperinsulinemic hypoglycemia, Pallor, Increased... |
ORPHA:263455 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Spinal dysraphism, Ventricular septal defect, Short stature, Cut... |
ORPHA:96334 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Bilateral tri... |
OMIM:306955 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Pulmonary ... |
ORPHA:57777 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Irritability, Lymphadenopathy, Athetosis, Splenomegaly |
OMIM:257200 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Anemia, Hemolytic anemia, Lateral ventricle dilatation, Pericar... |
OMIM:619487 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Abnormal test... |
ORPHA:54251 |
Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... |
OMIM:611812 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Maternal diabetes, Pulmonary hypoplasia, Atrial septal defect, Abnorma... |
ORPHA:1708 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Ventricular septal defect, Short stature, Leukemia, Reticulocytopenia, Pancytopenia, Bone... |
OMIM:227645 |
Q Fever |
|
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Perica... |
ORPHA:781 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Lateral ventricle dilatatio... |
OMIM:263520 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, P... |
ORPHA:83617 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia, Spina bifida, Short umbil... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Pulmonary hypoplasia, Short stature |
OMIM:614091 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Pallor, Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Chiari malformation, Pulmonary artery dilatation, Pleura... |
OMIM:265380 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, ... |
ORPHA:464329 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Ventricular septal defect |
OMIM:617895 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Asplenia, Atrial reentry tachycardia, Atrioventricular canal defect, Abd... |
OMIM:270100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
OMIM:300853 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Non-caseating... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Non-caseating... |
ORPHA:227990 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
Rhabdoid Tumor |
|
Lymphadenopathy, Irritability |
ORPHA:69077 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida, Pulmonary hypoplasia, Spina bifida occulta, Dextrocardia, Hypopla... |
ORPHA:2437 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... |
ORPHA:99050 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Short stature, Pulmonary hypoplasia, Atrial septal defect, Heart block... |
OMIM:617063 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen |
ORPHA:543 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Intrauterine growth retardatio... |
ORPHA:3305 |
Dpagt1-Cdg |
|
Anemia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Elevated hepatic transaminase, Int... |
ORPHA:86309 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia |
ORPHA:391 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Short stature, Hydrocele testis, Atrial septal defect, Pulmonary hypop... |
OMIM:145420 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Bronchiectasis, Emphysema |
ORPHA:1164 |
Genitopatellar Syndrome |
|
Short stature, Pulmonary hypoplasia, Atrial septal defect, Cryptorchidism, Agenesis of corpus cal... |
ORPHA:85201 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Intrauterine growth retardation |
ORPHA:958 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Short stature, Reticulocytopenia, Congestive heart failure, Atrial sep... |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Cerebellar hypoplasia, Pulmonary hypoplasia, Stillbirth, Cryptorchidis... |
OMIM:616300 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Death in infancy, Elevated hepatic transaminase, Hepatomegaly, C... |
OMIM:619064 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Hypothyroidism, Decreased circulating antibody level, Growth delay, H... |
OMIM:226300 |
Degcags Syndrome |
|
Hepatosplenomegaly, Tachycardia, Hepatomegaly, Pneumonia, Patent foramen ovale, Ventricular septa... |
OMIM:619488 |
Al Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Howell-Jolly bodies, Abnormality of the liver, Anemia... |
ORPHA:85443 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature |
ORPHA:2725 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... |
OMIM:252920 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... |
OMIM:618969 |
Infection-Related Hemolytic Uremic Syndrome |
|
Respiratory tract infection, Myocarditis, Brain abscess, Pleural empyema, Hemolytic anemia, Pleur... |
ORPHA:544482 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia |
ORPHA:85166 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Decreased circulating antib... |
OMIM:618108 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Petechiae, Pancytopenia, Bone marrow hypoce... |
OMIM:620133 |
Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hypertension, Increased red cell si... |
OMIM:603903 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Short stature, Reticulocytopenia, ... |
ORPHA:124 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
Timothy Syndrome |
|
Bronchitis, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interva... |
OMIM:601005 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Atelosteogenesis Type I |
|
Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Neonatal short-trunk short... |
ORPHA:1190 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Miscarriage, Hepatosplenomegaly, Ani... |
ORPHA:71275 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated circulating cate... |
ORPHA:892 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, I... |
OMIM:614702 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Thrombocytopenia, Patent foramen ovale, Th... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Cerebellar hypoplasia, Hepatic necrosis, Interstitial pneumonitis,... |
OMIM:127550 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Agenesis of corpus callosum, Pulmonary hypoplasia, Cryptorchi... |
ORPHA:2059 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Cardio... |
OMIM:617713 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Situs inversus totalis |
OMIM:612776 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Elevated jugular venous pressure, Cholangiocarcinoma, Hepatocellular c... |
ORPHA:465508 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Death in infancy, Aplasia/Hypoplasia of the lungs, Spina bifida, B... |
ORPHA:1120 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Short stature, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Abnormal hea... |
OMIM:227646 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Short stature |
ORPHA:474 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Short stature, Death in i... |
OMIM:601559 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... |
ORPHA:83471 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor |
OMIM:616959 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Recurrent bronchitis, Situs inversus totalis, Pneumonia, Atelectasis |
OMIM:244400 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pulmonary hypoplasia, Short stature, Ventricular septal defect |
OMIM:615503 |
Fetal Akinesia Deformation Sequence 1 |
|
Cerebellar hypoplasia, Short umbilical cord, Pulmonary hypoplasia, Stillbirth, Cryptorchidism, Sm... |
OMIM:208150 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Jaundice, Congestive heart failure, ... |
ORPHA:615 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Ovarian neoplasm, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopath... |
ORPHA:83469 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Bronchopulmonary Dysplasia |
|
Pulmonary sequestration, Emphysema, Right ventricular failure, Abnormal lung morphology, Right ve... |
ORPHA:70589 |
Restrictive Dermopathy 1 |
|
Short umbilical cord, Hydropic placenta, Pulmonary hypoplasia, Atrial septal defect, Scaling skin... |
OMIM:275210 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Death in infancy, Recurren... |
OMIM:612301 |
Achondrogenesis, Type Ia |
|
Disproportionate short-trunk short stature, Pulmonary hypoplasia, Stillbirth |
OMIM:200600 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, He... |
ORPHA:292 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin ulcer, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow h... |
OMIM:615688 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Distal Monosomy 15Q |
|
Mitral atresia, Double outlet right ventricle with doubly committed ventricular septal defect and... |
ORPHA:1596 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology |
ORPHA:1548 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Short stature, Emphysema, Portal hypertension |
OMIM:210050 |
Achondroplasia |
|
Rhizomelia, Pulmonary hypoplasia, Death in infancy, Neonatal short-limb short stature |
OMIM:100800 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal pericardium morphology, Biliary cirrhosis, Hepatic cysts, Anemia, Abno... |
ORPHA:284 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Mitral valve calcification, Abnormal pulmonary interstitial morp... |
ORPHA:77261 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Disproportionate short stature, Severe short stature, Umbilical ... |
ORPHA:93298 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation t... |
ORPHA:293978 |
Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Rhizomelia, Short stature, V... |
ORPHA:818 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Pericardial effusion, Generalized lymphadenopathy, Hepatic steatosis, Hypertrophi... |
OMIM:615846 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Emphysema, Pleura... |
ORPHA:36412 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... |
OMIM:212140 |
Tetrasomy 9P |
|
Absent gallbladder, Pulmonary arterial hypertension, Biliary atresia, Patent foramen ovale, Abnor... |
ORPHA:3310 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Parathyroid adenoma, Neoplasm of the liver, Parath... |
ORPHA:653 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Pulmonary hypoplasia, Pulmonary venous occlusion, Br... |
ORPHA:2260 |
Raine Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Short stature, Death in infancy |
OMIM:259775 |
Renal Tubular Dysgenesis |
|
Hypotension, Pulmonary hypoplasia |
OMIM:267430 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Umbilical hernia |
ORPHA:932 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Recurrent respiratory infections, Short stature, Chiari malformation, I... |
OMIM:264090 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Short stature, Pancytopenia, Abnormal heart morphology, Hypergonadotro... |
OMIM:600901 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Neonatal death, Pulmonary hypoplasia, Complete atrioventricular canal defect,... |
OMIM:617925 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature |
ORPHA:2145 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Pallor |
ORPHA:54028 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Pallor, Hepatic steatosis, Hepatomegaly, Tachycardia |
ORPHA:348 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... |
OMIM:619418 |
Schnitzler Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Cerebral hemorrhage, Cutis laxa, Mitral valve prolapse, Pulmonary hypo... |
ORPHA:666 |
Alpha-1-Antitrypsin Deficiency |
|