Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death i... |
OMIM:253300 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... |
ORPHA:266 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly |
ORPHA:294 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally... |
OMIM:618654 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Myofiber disarray, Proximal muscle weakness in ... |
OMIM:301075 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Increased variabilit... |
OMIM:616816 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... |
OMIM:224120 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Camptodactyly, Patent ductus arteriosus, Protein-losing enteropathy, Edema, Death... |
OMIM:608104 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Adult-Onset Nemaline Myopathy |
|
High palate, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Neuromuscular dys... |
ORPHA:171442 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... |
ORPHA:2302 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Polyhydramnios, Death in infancy, Dy... |
OMIM:615348 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, High palate, ... |
ORPHA:171439 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventricular septal ... |
OMIM:619170 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... |
ORPHA:2847 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... |
ORPHA:563 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Gastroesophageal reflux, Chronic pulmonary obstruction, T... |
ORPHA:2414 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... |
OMIM:611615 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... |
OMIM:208081 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy,... |
ORPHA:91130 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... |
ORPHA:860 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, High palate, Gastroesophageal reflux, Cleft palate, ... |
OMIM:614399 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... |
ORPHA:86812 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... |
ORPHA:363444 |
Nemaline Myopathy 2 |
|
High palate, Apnea, Cleft palate, Weakness of facial musculature, Increased variability in muscle... |
OMIM:256030 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy, Respiratory fail... |
OMIM:616277 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, Megaduodenum, Int... |
OMIM:611376 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cyanosis, Recurrent upper respiratory tract infections, Desq... |
OMIM:263000 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragma... |
OMIM:616866 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Pylori... |
OMIM:614262 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Pulmonary artery atresia, Ventricular septal d... |
ORPHA:1209 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
High palate, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Respiratory insuf... |
OMIM:255310 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Arrhythmia, Rag... |
ORPHA:352447 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Respiratory insufficiency, Fatty replacement of skeletal muscle, Dy... |
OMIM:255100 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... |
ORPHA:1329 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Sandestig-Stefanova Syndrome |
|
High palate, Muscular ventricular septal defect, Camptodactyly, Respiratory failure, Perimembrano... |
OMIM:618804 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Cyanosis, Tachypnea, Pneumothorax, De... |
ORPHA:2257 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly |
OMIM:611638 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Dehydration, Death in infancy, Abnormal intestine morphology |
OMIM:251850 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Hypertension |
ORPHA:3188 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... |
OMIM:228940 |
Myopathy, Distal, 1 |
|
High palate, Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 mu... |
OMIM:160500 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular hypertrop... |
OMIM:604169 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
High palate, Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Mus... |
OMIM:255160 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Respiratory failure, Arthrogry... |
OMIM:607598 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Respiratory failure, Congestive heart failure, Ragged-red muscle fibers |
OMIM:616794 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Ab... |
ORPHA:449285 |
Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnorma... |
ORPHA:98913 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Pedal edema, Reduced left ventricular ... |
ORPHA:980 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, High palate, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, I... |
ORPHA:98905 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, High, narrow palate, Flexion contracture, EMG: myopathic abnorm... |
ORPHA:171433 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Thrombocytosis, Lym... |
OMIM:614034 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Right ventri... |
ORPHA:335 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pulm... |
ORPHA:95430 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... |
ORPHA:1909 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Myopathy, Congenital, Nonprogressive |
|
Atrial septal defect, Weakness of facial musculature, Apneic episodes in infancy, Polyhydramnios,... |
OMIM:619967 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Hypoxemia, Hypertension, Nonproductive cough, Nodular pattern on ... |
ORPHA:79126 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... |
OMIM:115197 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Gastroesophageal reflux, Ventr... |
OMIM:600987 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Weakness of facial musculature, Quadriceps muscle w... |
ORPHA:70 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Death in infan... |
ORPHA:1354 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... |
OMIM:300717 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Congestive heart failure, Flexion contracture, Hypoventilation, Calf musc... |
OMIM:310200 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... |
OMIM:619461 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Glossoptosis, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Transposition of the great arteries, Paroxysmal supraventricular ... |
OMIM:617877 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Jaundice, Death in infancy, Glossoptosis |
OMIM:614876 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... |
OMIM:619042 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Pleural effusi... |
ORPHA:90362 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Pulmonary edema, Macroglossia, Cyanosis, Cardiomegaly, Hypotension, Sho... |
OMIM:261740 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Respiratory failure, Cardi... |
ORPHA:79327 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... |
ORPHA:1194 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Villous atrophy, Respiratory tract infection, Bronch... |
OMIM:619445 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Tracheoesop... |
ORPHA:141127 |
Pontocerebellar Hypoplasia, Type 4 |
|
Polyhydramnios, Death in infancy, Dysphagia, Congenital contracture, Respiratory failure |
OMIM:225753 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism, Patent duct... |
ORPHA:90308 |
Minicore Myopathy With External Ophthalmoplegia |
|
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:255320 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, High palate, Neonatal death, Arthrogryposis multiplex congenita, Skeletal muscle... |
OMIM:611890 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Gastroesophageal reflux, Central sleep apnea, Dysphagia, Hypertrophic ... |
ORPHA:70472 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ... |
ORPHA:444013 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia |
ORPHA:391646 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchit... |
ORPHA:449280 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Pulmonic stenosis, Intestina... |
ORPHA:3426 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia |
OMIM:218670 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Colon perfora... |
OMIM:600001 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, High palate, Weakness of facial musculatur... |
ORPHA:596 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... |
OMIM:614299 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Cap Myopathy |
|
High palate, Abnormal muscle fiber morphology, Sinus tachycardia, Central hypoventilation, Increa... |
ORPHA:171881 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... |
OMIM:619334 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... |
OMIM:613642 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Macroglossia, Left ventri... |
ORPHA:308552 |
Halperin-Birk Syndrome |
|
High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Flexion contracture, Pseud... |
OMIM:618651 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Nemaline Myopathy 3 |
|
High palate, Nemaline bodies, EMG: myopathic abnormalities, Respiratory insufficiency, Type 1 mus... |
OMIM:161800 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... |
ORPHA:99103 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abnormal pericardium morphology, Arteritis, Gastrointestinal infarcti... |
ORPHA:679 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele |
ORPHA:1528 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Airway obstruction, Anomalous pulmonary venous return, Recurrent s... |
ORPHA:244 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Anal atresia, Atrial septal defect |
ORPHA:3469 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Right ventricul... |
ORPHA:199241 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Respiratory insufficiency, Limb muscle weakness, Dyspnea, Global systolic dysfun... |
OMIM:606842 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Weakness of facial musculature, Gastrointestinal dysmotility, Respiratory failure |
OMIM:618637 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Scapular winging, Acrocyanosis, Cleft palate |
ORPHA:2901 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Trans... |
ORPHA:183 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Transient ischemic attack, Hemothorax, Pleural empyema, Cyanosis, Pulmona... |
ORPHA:2038 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Steatorrhea, Death in childhood, Prolonged prothrombin time, Nonimmune hydro... |
OMIM:212065 |
Chromosome 9P Deletion Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Heart murmur, Ventricular ... |
OMIM:158170 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Malrotation of small bowel, Ventricular septa... |
ORPHA:139466 |
Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Aplasia of the ab... |
ORPHA:2970 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... |
OMIM:608358 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory fai... |
OMIM:618291 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Ventricular septal defect, Pyloric stenosis, Gastrointestinal hemorrhage, G... |
ORPHA:363705 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... |
OMIM:613870 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonary HRCT, Cough, Heart mu... |
ORPHA:99931 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, H... |
ORPHA:846 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... |
OMIM:615934 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... |
ORPHA:1461 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Narrow palate, High, narrow palate, Right ventricular hypertrophy, Increased variability i... |
OMIM:612949 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... |
OMIM:617021 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, We... |
ORPHA:324604 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Reduced left ventricular ejection fraction, Respiratory failure, Flexion contracture, Arrhythmia,... |
ORPHA:258 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Premature skin wrinkling... |
ORPHA:101028 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
Alg9-Cdg |
|
Torticollis, Asthma, Hypoplasia of the musculature, Atrial septal defect, Gastroesophageal reflux... |
ORPHA:79328 |
Congenital Fiber-Type Disproportion Myopathy |
|
High palate, Flexion contracture of finger, Weakness of facial musculature, Respiratory failure, ... |
ORPHA:2020 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, We... |
OMIM:258450 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, M... |
OMIM:615355 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respi... |
ORPHA:2590 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Villous atrophy, Ar... |
OMIM:601110 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Immunodeficiency 31C |
|
Villous atrophy, Recurrent respiratory infections, Abnormal intestine morphology |
OMIM:614162 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... |
OMIM:160565 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Ogden Syndrome |
|
High palate, Apnea, Ventricular septal defect, Pulmonary hypoplasia, Jaundice, Cardiomegaly, Tors... |
OMIM:300855 |
Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Increased fecal calprotectin level, Cleft palate, Atrioventricular canal de... |
OMIM:619573 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Hyperekplexia 4 |
|
High palate, Flexion contracture, Camptodactyly, Distal arthrogryposis, Respiratory failure |
OMIM:618011 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Lymphopenia |
OMIM:152800 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Urticaria, Diffuse alveolar hemorrhage, Enterocolitis |
OMIM:616050 |
Scleroderma |
|
Myocarditis, Transient ischemic attack, Pericarditis, Peau d'orange, Abnormal large intestine mor... |
ORPHA:801 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Anomalous pulmonary venous return, Systolic... |
ORPHA:99104 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Atrial septal defect, Episodic tachypnea, Tachycardia, Exercise-induced rha... |
ORPHA:26793 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Respiratory insufficiency, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyo... |
OMIM:615352 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal... |
ORPHA:210122 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate |
ORPHA:2515 |
Netherton Syndrome |
|
Asthma, Urticaria, Intestinal atresia, Hypernatremic dehydration, Angioedema, Allergic rhinitis, ... |
OMIM:256500 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Respiratory insufficiency, Patent ductus arteriosus, Dysphagia, Hypertrop... |
OMIM:616276 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Pulmonary artery atresia, Ventricular septal defect... |
ORPHA:401935 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Left-to... |
ORPHA:99050 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Respiratory insufficiency, Polyhydramnios, Arthrogryposis multiplex congenita, Edema... |
OMIM:615330 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Right ... |
ORPHA:70589 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Respiratory insufficiency, Tetralogy of Fallot, Ve... |
ORPHA:1166 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy |
OMIM:619386 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Gastroesophageal reflux, Resp... |
ORPHA:732 |
Eisenmenger Syndrome |
|
Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Atrioventricular canal defect... |
ORPHA:97214 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... |
ORPHA:132 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Multiple joint contractures, Gastroesophageal reflux, EMG: myopathic abnormalities, ... |
ORPHA:486815 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
Esophageal Atresia |
|
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric... |
ORPHA:1199 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... |
ORPHA:52430 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood, Pulmonary artery atresia |
OMIM:613759 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... |
OMIM:615524 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Dysphagia, Respiratory fai... |
ORPHA:26791 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:608647 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy, R... |
OMIM:609015 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Dehy... |
ORPHA:95427 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatoblastoma, Gastritis, Peripheral pulmo... |
ORPHA:84064 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Cyanosis, Tetralogy of Fallot, Ve... |
OMIM:617478 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... |
ORPHA:597 |
Rigid Spine Muscular Dystrophy 1 |
|
High palate, Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture,... |
OMIM:602771 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary in... |
OMIM:620067 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Abnormal bleeding, Death in childhood, Villous atrophy, Protein-losing enteropathy, ... |
OMIM:602579 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... |
OMIM:601612 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Iron deficiency anemia |
OMIM:226300 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:619189 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
Mcdonough Syndrome |
|
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... |
OMIM:248950 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Cyanosis, Te... |
ORPHA:3304 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Respiratory distress, Flexion contracture, Respiratory insuffic... |
ORPHA:367 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Truncus Arteriosus |
|
Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Abnormal heart morphology, Tachyca... |
ORPHA:3384 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Mitochondrial Trifunctional Protein Deficiency |
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Tricuspid regurgitation, Left ventricular hypertrophy, Respiratory insufficiency, Mitral regurgit... |
ORPHA:746 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosu |