Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... |
OMIM:615234 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor |
OMIM:613561 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Pallor, Anemia |
ORPHA:163596 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu... |
OMIM:194380 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... |
ORPHA:98870 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... |
ORPHA:300298 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... |
OMIM:600462 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin |
OMIM:603165 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... |
OMIM:607616 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Short stature, Splenomegaly, Jaundice, Patent ductus art... |
ORPHA:290 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Intrauterine growth retardation |
ORPHA:295 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hydrocephalus, Jaundice, Anemia, Intrauterine growth... |
ORPHA:858 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thro... |
OMIM:603552 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Alpha-Heavy Chain Disease |
|
Growth delay, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:100025 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Rhizomelia, Anemia, Leukopenia, Dry skin, Thrombocytopenia |
OMIM:618116 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly |
ORPHA:100024 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ... |
ORPHA:90051 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Patent ductus arteriosus, Anemia, Hepatomegaly |
ORPHA:2123 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
Immunodeficiency 46 |
|
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... |
OMIM:224120 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura |
OMIM:614514 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Astigmatism, Pallor, Neutropenia, Intrauterine growth retardation |
OMIM:609053 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Developmental... |
ORPHA:124 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Patent ductus arteriosus, Anemia, Increased m... |
OMIM:617021 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia |
OMIM:616435 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... |
OMIM:606003 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Primary conge... |
OMIM:105650 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Congenital Heart Block |
|
Intrauterine growth retardation, Patent ductus arteriosus, Pallor |
ORPHA:60041 |
Lathosterolosis |
|
Hepatomegaly, Cataract, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal plat... |
ORPHA:46059 |
American Trypanosomiasis |
|
Splenomegaly, Pallor, Hepatomegaly |
ORPHA:3386 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Triploidy |
|
Hepatomegaly, Cataract, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormality of t... |
ORPHA:3376 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia |
ORPHA:75233 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia |
OMIM:618839 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:600901 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:227650 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Intrauterine growth retardation, Short stature, Anemia, Neutropenia |
OMIM:617056 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly |
ORPHA:134 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Intrauterine ... |
OMIM:227645 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor, Mydriasis |
ORPHA:95613 |
Fumarase Deficiency |
|
Conjunctival icterus, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycythemia |
OMIM:606812 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Anemic pallor, Short stature, Hydrocephalus, Patent ductus arteriosus, Annular panc... |
OMIM:227646 |
Fanconi Anemia, Complementation Group V |
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Anemia, Short stature, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... |
ORPHA:3260 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... |
OMIM:611881 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida, Cataract |
ORPHA:64754 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Irida Syndrome |
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Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Growth delay, Pallor, Anemia |
ORPHA:667 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Incontinentia Pigmenti |
|
Cataract, Short stature, Eosinophilia, Keratitis, Leukocytosis, Erythema, Pallor |
OMIM:308300 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia |
OMIM:618165 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Sitosterolemia 1 |
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Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia |
ORPHA:88 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Cataract |
ORPHA:588 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... |
OMIM:260400 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Microcornea, Intrauterine growth retardation, Short stature, Spina bifida |
ORPHA:1327 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine gro... |
OMIM:611134 |
Nephronophthisis 11 |
|
Anisocoria, Growth delay, Hepatic fibrosis, Anemia |
OMIM:613550 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Wildervanck Syndrome |
|
Meningocele, Lens subluxation |
ORPHA:3456 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation |
OMIM:603194 |
Hemochromatosis, Type 5 |
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Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Retinitis Pigmentosa 75 |
|
Pallor, Mixed astigmatism |
OMIM:617023 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele |
ORPHA:1759 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Microcornea, Ne... |
ORPHA:2839 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Meningocele, Short stature, Chorioretinal coloboma |
ORPHA:2031 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida |
ORPHA:1104 |
Lathosterolosis |
|
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac... |
OMIM:607330 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Hydrocephalus, Pallor, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia |
ORPHA:544482 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... |
ORPHA:2330 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Arima Syndrome |
|
Hepatomegaly, Growth delay, Hepatic fibrosis, Chorioretinal coloboma, Cirrhosis, Occipital mening... |
OMIM:243910 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Tangier Disease |
|
Corneal opacity, Hepatosplenomegaly, Anemia, Dry skin, Thrombocytopenia |
ORPHA:31150 |
Mosaic Trisomy 9 |
|
Corneal opacity, Spina bifida, Asplenia, Patent ductus arteriosus, Abnormal liver lobulation, Int... |
ORPHA:99776 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Coloboma |
OMIM:614424 |
Fountain Syndrome |
|
Erythema, Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Corneal opacity, Spina bifida, Ectopia lentis, Patent ductus arteriosus, E... |
ORPHA:2092 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Cataract, Short stature, Spina bifida, Hydrocephalus,... |
ORPHA:84 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Trisomy 18 |
|
Cataract, Short stature, Spina bifida, Anencephaly, Microcornea, Growth delay, Holoprosencephaly,... |
ORPHA:3380 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Hydrocephalus, Buphthalmos, Coloboma, Pallor, Opacification of the corneal stroma, Mega... |
OMIM:253280 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Spina bifida, Short stature, Pancreatic cysts, Thrombocy... |
OMIM:274000 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Heterochromia iridis, Spina bifida |
ORPHA:894 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Short stature, Spina bifida, Antecubital pterygium, Microcornea, Microphak... |
OMIM:161200 |
Neurocutaneous Melanocytosis |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnor... |
ORPHA:2369 |
Jacobsen Syndrome |
|
Cataract, Short stature, Spina bifida, Microcornea, Growth delay, Intrauterine growth retardation... |
ORPHA:2308 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Spina bifida |
ORPHA:99742 |
Fibular Hemimelia |
|
Thrombocytopenia, Abnormal anterior chamber morphology, Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Cataract, Spina bifida |
OMIM:616038 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Mydriasis |
ORPHA:2131 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Esophageal Atresia |
|
Growth delay, Coloboma, Pallor |
ORPHA:1199 |
Hallermann-Streiff Syndrome |
|
Cataract, Spina bifida, Proportionate short stature, Optic disc coloboma, Chorioretinal coloboma,... |
OMIM:234100 |
22Q11.2 Deletion Syndrome |
|
Cataract, Short stature, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Patent ductus ar... |
ORPHA:567 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
Neu-Laxova Syndrome |
|
Cataract, Spina bifida, Lack of skin elasticity, Intrauterine growth retardation, Pterygium |
ORPHA:2671 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Iris coloboma |
ORPHA:2789 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Facial erythema, Nuclear cataract, Scaling skin, Dry skin |
ORPHA:1010 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor, Prominent corneal nerve fibers |
ORPHA:653 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Redundant neck skin, Short stature, Rhizo... |
ORPHA:397715 |
Lateral Meningocele Syndrome |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia |
OMIM:130720 |
Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... |
ORPHA:1393 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Intrauterine growth retardation |
ORPHA:3412 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Abnormality of the spleen, Meningocele |
ORPHA:991 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Band keratopathy, Patent ductus arteriosus, Developmental cataract, Iris... |
OMIM:267750 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Blue irides, Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193500 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Cataract, Iris coloboma, Spina bifida |
OMIM:109400 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Neu-Laxova Syndrome 1 |
|
Cataract, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small placent... |
OMIM:256520 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Spina bifida, Coloboma, Retinal coloboma, Iris coloboma, Exocrine pancreatic insuf... |
ORPHA:508498 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Cataract, Short stature, Spina bifida, Postnatal growth retardation, Patent duc... |
OMIM:180849 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Aicardi Syndrome |
|
Cataract, Spina bifida, Postnatal growth retardation, Optic disc coloboma, Hepatoblastoma |
OMIM:304050 |
Marfan Syndrome |
|
Flat cornea, Lens luxation, Ectopia lentis, Meningocele, Hypoplasia of the iris, Lens subluxation... |
ORPHA:558 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Retinal coloboma |
OMIM:616546 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele |
ORPHA:2879 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract |
ORPHA:363958 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Lisch nodules |
OMIM:162200 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... |
ORPHA:573278 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Short stature |
OMIM:277170 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... |
OMIM:114290 |
Otopalatodigital Syndrome, Type Ii |
|
Cataract, Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, U... |
OMIM:304120 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... |
OMIM:192350 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature |
OMIM:276820 |