| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... |
OMIM:615631 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Intrauterine growth retardatio... |
OMIM:266200 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia |
OMIM:206100 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Pallor, Growth delay, Eleva... |
OMIM:615234 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Pallor, Thrombocytopenia... |
ORPHA:848 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Scoliosis, Abnormal hemoglobin, Anemia, Short neck, Thrombocytopenia, Decreased skull ossificatio... |
ORPHA:3319 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Bone pain, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
| Danon Disease |
|
Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis,... |
OMIM:300257 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Elevated hepatic transaminase, Sideroblastic anemia, Growth delay, Pallor |
OMIM:613561 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia |
OMIM:312500 |
| Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Hemolytic anemia, Splenomegaly, Pallor |
OMIM:611804 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... |
ORPHA:507 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly |
OMIM:185000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hepatomegaly, Splenomegaly, Pallor |
ORPHA:163596 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... |
ORPHA:824 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Nephrotic syndrome, Thrombocytopenia, Delayed skeletal maturation, Decreased body w... |
OMIM:613606 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor |
ORPHA:517 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... |
OMIM:616860 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Retinal atrophy, Decreased mean corpuscular volume, Optic d... |
OMIM:616959 |
| Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... |
ORPHA:822 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Elevated hepa... |
ORPHA:300298 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL cholesterol concentrati... |
OMIM:616834 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Reduced bone mineral density, Small for gestational age, Inguinal hernia, Delayed ossif... |
OMIM:618392 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... |
OMIM:277300 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor, Anemia of inadequate production, Macrocytic anemia, Sideroblastic anemia, Hypochro... |
OMIM:300751 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocytopenia, Auto... |
ORPHA:1959 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Central posterior corneal opacity, Keratoconus, Abnormal vertebral segmentation and f... |
OMIM:244600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Osteoporosis, Amelogenesis imperfecta, Elevated circulating creatine k... |
OMIM:614727 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Short s... |
OMIM:611590 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... |
OMIM:617514 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
| Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
| Kniest Dysplasia |
|
Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Aplasia/Hypoplasia o... |
ORPHA:485 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... |
OMIM:224120 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate producti... |
ORPHA:86839 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... |
OMIM:618469 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis, Iris coloboma |
OMIM:613702 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Neonatal death, Anemia |
OMIM:273680 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Inguinal hernia, Short neck, Knee f... |
OMIM:178110 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation, Failure to thrive, Thrombocytopenia, 3-Methylglutaconic aciduria |
ORPHA:67048 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... |
OMIM:610017 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Jaundice, Anemia, Thrombocytopenia, Pallor, Neutropenia |
OMIM:246400 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Shwachman-Diamond Syndrome 1 |
|
Short stature, Myocardial necrosis |
OMIM:260400 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Niemann-Pick Disease, Type B |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Short stature, Sea-blue histiocytosis, Thrombocytop... |
OMIM:607616 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly |
OMIM:613313 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Ureteral atresia, Unilateral renal agenesis, Sacral dimple, Vertebral segmentat... |
OMIM:618845 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Delayed puberty, Hepatocellular carcinoma, Anisopoikilocytosis, Jaundice, Ext... |
ORPHA:231214 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve... |
ORPHA:66637 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Delayed puberty, Hepatocellular carcinoma, Jaundice, Extramedul... |
ORPHA:231226 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Reduced level of N-ac... |
OMIM:224100 |
| Gorlin Syndrome |
|
Cataract, Scoliosis, Vertebral fusion, Iris coloboma, Vertebral wedging, Hemivertebrae |
ORPHA:377 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigidit... |
OMIM:617404 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... |
ORPHA:93315 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Vertebral fusion, Micropenis, Thoracolumbar scoliosis, Delayed cranial suture clos... |
OMIM:113000 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Hypophosphatemia, Scoliosis, Genu varum, Abnormal adipose tissue morphology, Bone pai... |
ORPHA:93160 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Elbow ... |
OMIM:606612 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
| Atransferrinemia |
|
Hypochromic anemia, Abnormality of the liver |
OMIM:209300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Sple... |
OMIM:607765 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Hepatomegaly, Pallor, Thrombocytopenia, Acute leukemia... |
ORPHA:3226 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Joint stiffness,... |
ORPHA:2635 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Thrombocytopenia, Pallor, Megaloblastic anemia |
ORPHA:49827 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae |
OMIM:122600 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Verheij Syndrome |
|
Small for gestational age, Scoliosis, Vertebral fusion, Hip dislocation, Short neck, Renal cyst, ... |
OMIM:615583 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612528 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... |
OMIM:266510 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly, Pallor |
ORPHA:90033 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
| Flynn-Aird Syndrome |
|
Cataract, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia |
OMIM:608898 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Short neck, Megalocornea, Umbilical hernia, Genu recurv... |
ORPHA:915 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Anemia, Elevated hepatic transaminase, Hepatomegaly, Macrocytic anemia, He... |
OMIM:615438 |
| Hemochromatosis, Type 3 |
|
Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, Purpura, Neutropenia |
OMIM:604250 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... |
ORPHA:2345 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... |
OMIM:618156 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Erythema, Anemia, Hepatomegal... |
OMIM:557000 |
| Congenital Toxoplasmosis |
|
Jaundice, Anemia, Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, T... |
ORPHA:858 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... |
ORPHA:71275 |
| Schimke Immunoosseous Dysplasia |
|
Small for gestational age, Proteinuria, Short neck, Lymphopenia, Osteopenia, Thrombocytopenia, Pa... |
OMIM:242900 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly, Pallor |
ORPHA:276575 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia... |
OMIM:600462 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, B lymphocytope... |
OMIM:601457 |
| Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor |
ORPHA:276556 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Vertebral fusion, Exercise-induced myoglobinuria, Kyphosis, Elevated circulating creat... |
OMIM:607155 |
| Cholesteryl Ester Storage Disease |
|
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... |
OMIM:278000 |
| Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... |
OMIM:612690 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Large for gestational age, Corneal opacity |
ORPHA:2432 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Scoliosis, Small for gestational age, Failure to thrive |
OMIM:610883 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
| Autosomal Erythropoietic Protoporphyria |
|
Erythema, Cirrhosis, Microcytic anemia, Decreased liver function, Cholelithiasis |
ORPHA:79278 |
| Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Reticulocytosis, Anemia, Sclerotic vertebral endplates, Thrombocy... |
OMIM:611490 |
| Sengers Syndrome |
|
Cataract, Osteopenia, Thrombocytopenia, Developmental cataract, 3-Methylglutaconic aciduria |
OMIM:212350 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplasia |
ORPHA:261250 |
| Kahrizi Syndrome |
|
Cataract, Thoracic kyphosis, Iris coloboma, Knee flexion contracture, Elbow contracture |
OMIM:612713 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis |
ORPHA:313892 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Abnormal vertebral segmentation and f... |
ORPHA:90650 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Inguinal hernia, Irregular vertebral endplates, Coronal cleft vertebrae, Truncal obesi... |
OMIM:618363 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Joint swelling, Abscess, Failure to thrive in infancy, Fused cervical vertebrae, Peri... |
OMIM:612852 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Lens subluxation, Short neck |
ORPHA:3456 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Patellar dislocation, Hemive... |
ORPHA:2916 |
| Kbg Syndrome |
|
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... |
ORPHA:2332 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Childhood-onset truncal obesity, Truncal obesity, Micropenis |
OMIM:610156 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Amoebiasis Due To Free-Living Amoebae |
|
Facial palsy, Myocardial necrosis |
ORPHA:68 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor |
ORPHA:276580 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Cataract, Limited elbow extension, Scoliosis, Vertebral fusion, Inguinal hernia, Short neck, Rena... |
OMIM:272460 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Malaria |
|
Acute kidney injury, Anemia, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactiv... |
ORPHA:673 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Pallor, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... |
OMIM:312150 |
| Wilson Disease |
|
Joint swelling, Pathologic fracture, Anemia, Bone pain, Arthritis, Failure to thrive, Back pain, ... |
ORPHA:905 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Inguinal hernia, Hip dislocation, Generalized joint laxity, Short neck, Ventral hernia, Umbilical... |
OMIM:618000 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Renal cyst, Steatorrhea, Kyphosis, Osteopenia, Failure to thrive, Nephrotic syndrome... |
OMIM:212065 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... |
OMIM:252011 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Anemia, Lymphopenia, Arthritis, Failure to thrive, Hypertriglyceridemia, Thrombocy... |
OMIM:617591 |
| Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Proteinuria, Short neck, Lymphopenia, Hyperlipidemia, Thrombocytopenia... |
ORPHA:1830 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Sandwich appearanc... |
OMIM:259700 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, T lymphoc... |
OMIM:615617 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
| Koolen-De Vries Syndrome |
|
Cataract, Hydronephrosis, Scoliosis, Vertebral fusion, Hip dislocation, Abnormal dental enamel mo... |
ORPHA:96169 |
| Dent Disease |
|
Rickets, Nephrocalcinosis, Renal phosphate wasting, Osteomalacia, Elevated circulating creatine k... |
ORPHA:1652 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, B... |
OMIM:241530 |
| Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive |
OMIM:607748 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Neurogenic bladder, Short neck,... |
OMIM:613686 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Ren... |
OMIM:300554 |
| Myelofibrosis |
|
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly |
OMIM:254450 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia, Premature skin wrinkling |
ORPHA:101028 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria |
ORPHA:2134 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Abnormal renal physiology, Hemophagocytosis, Anemia, Acute lymphoblastic leuk... |
ORPHA:158057 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... |
OMIM:253290 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Zonular cataract, Cataract, Scoliosis, Inguinal ... |
OMIM:222765 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:100025 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia |
OMIM:301080 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Abnormal joint morphology, Scoliosis, Hip dislocation, Joint stiffness, Inguinal hernia,... |
ORPHA:1901 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... |
OMIM:615558 |
| Gaucher Disease Type 1 |
|
Increased bone mineral density, Avascular necrosis, Osteolysis, Proteinuria, Leukopenia, Patholog... |
ORPHA:77259 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Abnormality of the ureter, Abnormal reticulocyte morphology, Kyphosis, Fused cervical... |
ORPHA:2522 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Prominent metopic ridge |
OMIM:309620 |
| Atelis Syndrome 1 |
|
Cataract, Leukopenia, Anemia, Thrombocytopenia, Lumbar kyphosis |
OMIM:620184 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity |
ORPHA:71529 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Otopalatodigital Syndrome Type 2 |
|
Cataract, Increased bone mineral density, Camptodactyly of finger, Scoliosis, Hydronephrosis, Ure... |
ORPHA:90652 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract, Low back pain, Joint stiffness, Abnormal hip joint morphology, Biconcave vertebral bodi... |
ORPHA:166011 |
| Lowe Oculocerebrorenal Syndrome |
|
Rickets, Camptodactyly of finger, Scoliosis, Hip dislocation, Pathologic fracture, Elevated circu... |
OMIM:309000 |
| Achondrogenesis Type 2 |
|
Cataract, Delayed proximal femoral epiphyseal ossification, Lens subluxation, Unossified sacrum, ... |
ORPHA:93296 |
| Pseudopseudohypoparathyroidism |
|
Cataract, Short neck, Osteoporosis, Enamel hypoplasia, Obesity |
OMIM:612463 |
| Dent Disease 1 |
|
Rickets, Nephrocalcinosis, Renal phosphate wasting, Osteomalacia, Sparse bone trabeculae, Proxima... |
OMIM:300009 |
| Preeclampsia |
|
Proteinuria, Small for gestational age, Acute kidney injury, Chronic kidney disease, Thrombocytop... |
ORPHA:275555 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia |
OMIM:177000 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulat... |
ORPHA:263455 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Abnormality of neutrophils, Abnormal lymphocyte mo... |
ORPHA:229717 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Short neck |
OMIM:214300 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Baralle-Macken Syndrome |
|
Cataract, Urinary incontinence, Kyphosis, Obesity |
OMIM:619255 |
| Wt Limb-Blood Syndrome |
|
Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia, Radioulnar s... |
OMIM:194350 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:100024 |
| Sepsis In Premature Infants |
|
Jaundice, Leukocytosis, Anemia, Hepatomegaly, Purpura, Pallor, Thrombocytopenia, Petechiae, Decre... |
ORPHA:90051 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Developmental cataract, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae |
ORPHA:1445 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Osteopenia, Failure to thri... |
OMIM:617475 |
| Abetalipoproteinemia |
|
Reticulocytosis, Corneal ulceration, Anemia, Steatorrhea, Decreased LDL cholesterol concentration... |
ORPHA:14 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Alg12-Cdg |
|
Ulnar deviation of the wrist, Camptodactyly, Scoliosis, Micropenis, Abnormal adipose tissue morph... |
ORPHA:79324 |
| Alkaptonuria |
|
Low back pain, Vertebral fusion, Decreased glomerular filtration rate, Arthropathy, Limited shoul... |
OMIM:203500 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology... |
ORPHA:1345 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Vertebral fusion, Inguinal hernia, Neurogenic bladder, Short neck, Umbilical hernia, K... |
OMIM:130720 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Purpura, Short stature, Asplenia, Anemia |
ORPHA:3204 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... |
OMIM:613101 |
| Alpha-Mannosidosis |
|
Cataract, Craniofacial hyperostosis, Avascular necrosis, Scoliosis, Inguinal hernia, Short neck, ... |
ORPHA:61 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Thrombocytopenia, Refractory anemia, Leukopenia |
OMIM:231095 |
| Fanconi Renotubular Syndrome 2 |
|
Rickets, Proteinuria, Hypophosphatemia, Glycosuria, Renal phosphate wasting, Decreased glomerular... |
OMIM:613388 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Koolen-De Vries Syndrome |
|
Cataract, Hydronephrosis, Small for gestational age, Iris hypopigmentation, Scoliosis, Vertebral ... |
OMIM:610443 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... |
OMIM:235700 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Anemia, Failure to thrive, Conjunctivitis, Neutropenia |
OMIM:616740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... |
OMIM:618395 |
| Summitt Syndrome |
|
Craniosynostosis, Obesity |
OMIM:272350 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Hypophosphatemia, Bone pain, Failure to thrive, Delayed epiphyseal ossification, Sparse ... |
OMIM:600081 |
| Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Camptodactyly, Developmental cataract, Decreased body weight |
OMIM:619420 |
| Stuve-Wiedemann Syndrome 2 |
|
Scoliosis, Camptodactyly, Thrombocytopenia |
OMIM:619751 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Bone pain, Hypophosphatemic rickets, Osteomal... |
OMIM:193100 |
| Temple Syndrome |
|
Small for gestational age, Scoliosis, Overweight, Truncal obesity, Hypertriglyceridemia, Joint hy... |
OMIM:616222 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Stiff Skin Syndrome |
|
Cataract, Camptodactyly, Lipodystrophy, Limited shoulder movement, Knee flexion contracture, Elbo... |
OMIM:184900 |
| Microtriplication 11Q24.1 |
|
Scoliosis, Short neck, Joint dislocation, Hyperlipidemia, Keratoconus, Limitation of joint mobili... |
ORPHA:289522 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Osteoarthritis, Obesity |
ORPHA:2206 |
| Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Pallor, Hepatic cysts |
OMIM:616307 |
| Wagr Syndrome |
|
Cataract, Scoliosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
| Chylomicron Retention Disease |
|
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:71 |
| Myh9-Related Disease |
|
Proteinuria, Presenile cataracts, Congenital thrombocytopenia, Renal insufficiency, Nephropathy, ... |
ORPHA:182050 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Nephrocalcinosis, Hypokalemia, Hypercalciuria, Failure to thrive, Distal renal tubular a... |
OMIM:602722 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Delayed epiphyseal ossification, Sparse bone tra... |
OMIM:600785 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Wolman Disease |
|
Bone-marrow foam cells, Anemia, Hepatomegaly, Growth delay, Hepatic failure, Splenomegaly |
ORPHA:75233 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... |
OMIM:259710 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Ankle clonus, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic le... |
OMIM:159550 |
| Hypophosphatasia, Adult |
|
Rickets, Chondrocalcinosis, Pathologic fracture, Arthropathy, Osteomalacia, Increased susceptibil... |
OMIM:146300 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Petechiae, ... |
OMIM:612840 |
| Larsen Syndrome |
|
Spondylolysis, Tracheomalacia, Scoliosis, Vertebral fusion, Hip dislocation, Multiple carpal ossi... |
OMIM:150250 |
| Fanconi Anemia, Complementation Group I |
|
Short neck, Horseshoe kidney, Astigmatism, Fused cervical vertebrae, Vesicoureteral reflux, Decre... |
OMIM:609053 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... |
ORPHA:98850 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Cyclic Vomiting Syndrome |
|
Pallor, Growth delay |
OMIM:500007 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Reduced bone mineral density, Osteoporosis, Recurrent fractures, Delayed skeletal matur... |
ORPHA:2410 |
| Senior-Loken Syndrome |
|
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Abnormality of bone mineral den... |
ORPHA:3156 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Anemia, Wormian bones, Omphalocele, Increased body weight, Delayed sk... |
OMIM:614450 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... |
OMIM:616050 |
| Felty Syndrome |
|
Abnormal joint morphology, Osteolysis, Anemia, Abnormal lymphocyte morphology, Arthritis, Thrombo... |
ORPHA:47612 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Homocystinuri... |
OMIM:614857 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Cystinosis |
|
Rickets, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubu... |
ORPHA:213 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis, Anemia |
OMIM:606069 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Hydronephrosis, Increased density of long bone diaphyses, Scoliosis, Camptodact... |
OMIM:305620 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus |
ORPHA:231736 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... |
ORPHA:54057 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Lipodystrophy, Increased CD4:CD8 ratio, Failure to thrive... |
OMIM:618048 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy |
OMIM:616501 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Anemia, Congenital thrombocytopenia, Thrombocytopenia, R... |
OMIM:616738 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Patent ductus arteriosus, Anemia |
ORPHA:2123 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Hypophosphatemia, Bone pain, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency ... |
ORPHA:89937 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Generalized osteoporosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, M... |
ORPHA:2959 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Renal phosphate wasting, Osteomalacia, Abnormal trabecular bone morph... |
ORPHA:289176 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Leukopenia, Hyperuricemia, Anemia, Chronic kidney disease, Increased blood urea nitr... |
OMIM:613845 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Hypophosphatemia, Hypocalcemic seizures, Bone pain, Enamel hypoplasia, Failure to thrive... |
OMIM:264700 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
