Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... |
OMIM:266200 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... |
ORPHA:848 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract, Neonatal death |
OMIM:273680 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... |
OMIM:600462 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... |
ORPHA:507 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Elevated ... |
ORPHA:98870 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... |
OMIM:611590 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature |
ORPHA:49827 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature |
ORPHA:3319 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Jaundice, Splenomegaly, Short stature, Thrombocytopenia, Cataract,... |
ORPHA:290 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Bone-marrow foam cells, Anemia... |
OMIM:607616 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:295 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Co... |
OMIM:603552 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... |
ORPHA:3226 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Anemia, Thrombocytopenia, I... |
ORPHA:858 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:169079 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... |
OMIM:557000 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... |
ORPHA:331206 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Cataract, Anemia, Hepatic steatosis |
OMIM:606069 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... |
OMIM:611490 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Splenomegaly |
ORPHA:90037 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Purpura, Asplenia, Short stature |
ORPHA:3204 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Anemia, Thrombocytopenia |
ORPHA:101028 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia |
OMIM:618116 |
Alpha-Heavy Chain Disease |
|
Growth delay, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Short stature, Pancytopenia |
OMIM:616435 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Neutropenia, Anemia |
OMIM:604250 |
Mu-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:2123 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia, Short stature |
OMIM:618165 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, N... |
ORPHA:90051 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... |
ORPHA:86839 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... |
OMIM:224120 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome... |
OMIM:612840 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
Immunodeficiency 46 |
|
Anemia, Conjunctivitis, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly |
ORPHA:28 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Pallor, Astigmatism, Neutropenia, Intrauterine growth retardation |
OMIM:609053 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Patent ductus arteriosus, An... |
OMIM:608104 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... |
ORPHA:905 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Growth delay, Neutropenia, Short stature, Persistence of hemog... |
ORPHA:124 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Petechiae, Neutropenia |
OMIM:616216 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Neutropenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:289916 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia |
ORPHA:33226 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Acute pancreat... |
ORPHA:20 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolyt... |
ORPHA:398124 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemia, Anemic pallor |
ORPHA:329971 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Growth delay, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay |
OMIM:500007 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death |
OMIM:618835 |
Fanconi Anemia, Complementation Group E |
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Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... |
OMIM:600901 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death |
OMIM:618839 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Anemia, Short stature, Intrauterine growth retardation, Neutropenia |
OMIM:617056 |
Fanconi Anemia, Complementation Group A |
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Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... |
OMIM:227650 |
Omenn Syndrome |
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Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Fanconi Anemia, Complementation Group C |
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Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Intr... |
OMIM:227645 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Pallor |
OMIM:608423 |
Beta-Ketothiolase Deficiency |
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Pallor, Thrombocytosis, Hepatomegaly, Leukocytosis |
ORPHA:134 |
Spontaneous Periodic Hypothermia |
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Pallor |
ORPHA:29822 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... |
OMIM:300367 |
Diamond-Blackfan Anemia 1 |
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Congenital hypoplastic anemia, Short stature, Pallor, Thrombocytosis, Neutropenia, Primary congen... |
OMIM:105650 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
Diamond-Blackfan Anemia 20 |
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Anemia, Erythroid hypoplasia |
OMIM:618313 |
Frontal Encephalocele |
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Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... |
ORPHA:263455 |
Glycogen Storage Disease Xii |
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Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Normo... |
OMIM:611881 |
Nevus Comedonicus Syndrome |
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Spina bifida, Cataract, Spina bifida occulta |
ORPHA:64754 |
Rh Deficiency Syndrome |
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Hypochromia, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemoly... |
ORPHA:71275 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Hydrocephalus, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Pa... |
OMIM:227646 |
Idiopathic Hypereosinophilic Syndrome |
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Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Eosi... |
ORPHA:3260 |
Pituitary Apoplexy |
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Pallor, Normochromic anemia, Mydriasis |
ORPHA:95613 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Acalvaria |
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Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Short stature, Neutropenia |
OMIM:617243 |
Macrophage Activation Syndrome |
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Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated circulating aspa... |
ORPHA:158061 |
Myopathic Ehlers-Danlos Syndrome |
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Pallor |
ORPHA:536516 |
Osteopetrosis, Autosomal Recessive 5 |
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Hydrocephalus, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Short stat... |
OMIM:259720 |
Dohle Bodies And Leukemia |
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Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Autosomal Recessive Malignant Osteopetrosis |
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Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Growth delay, Anemia |
ORPHA:667 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Neutrophilia, Abnormality of the pancreas, Elevated hepatic transaminase, Anemia, Liver abscess |
ORPHA:54251 |
Adenohypophysitis |
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Pallor, Normochromic anemia |
ORPHA:95512 |
Isolated Sedoheptulokinase Deficiency |
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Cholestatic liver disease, Short stature, Severe postnatal growth retardation, Cholestasis, Hypoc... |
ORPHA:440713 |
Irida Syndrome |
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Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Retinitis Pigmentosa 51 |
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Pallor |
OMIM:613464 |
Incontinentia Pigmenti |
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Keratitis, Leukocytosis, Short stature, Pallor, Eosinophilia, Erythema, Cataract |
OMIM:308300 |
Stormorken Syndrome |
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Short stature, Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Senior-Loken Syndrome 8 |
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Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Dravet Syndrome |
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Pallor |
ORPHA:33069 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida, Intrauterine growth retardation, Microcornea, Short stature |
ORPHA:1327 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Shwachman-Diamond Syndrome 1 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Persistence of hemoglobin F, Myoc... |
OMIM:260400 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Anemia, Intrauterine growth retardation |
OMIM:618838 |
Orthostatic Hypotension 2 |
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Anemia |
OMIM:618182 |
Panhypophysitis |
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Pallor, Normochromic anemia |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
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Pallor, Anemia of inadequate production |
ORPHA:91349 |
Nephronophthisis 11 |
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Growth delay, Anemia, Anisocoria, Hepatic fibrosis |
OMIM:613550 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Short stature, Leukopenia, Dry skin, B lymphocytopenia, Rhizomelic arm shortening, C... |
ORPHA:508542 |
Non-Functioning Paraganglioma |
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Pallor |
ORPHA:94080 |
Fructose-1,6-Bisphosphatase Deficiency |
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Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:348 |
Sheehan Syndrome |
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Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
Neutrophilic Dermatosis, Acute Febrile |
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Anemia, Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Retinitis Pigmentosa 75 |
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Pallor, Mixed astigmatism |
OMIM:617023 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Diamond-Blackfan Anemia 10 |
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Steroid-responsive anemia, Short stature, Macrocytic anemia, Patent ductus arteriosus, Growth del... |
OMIM:613309 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Amish Lethal Microcephaly |
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Spina bifida, Hepatomegaly |
ORPHA:99742 |
Kcnq2-Related Epileptic Encephalopathy |
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Facial erythema, Pallor |
ORPHA:439218 |
Degcags Syndrome |
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Hepatomegaly, Congenital hypoplastic anemia, Pallor, Leukopenia, Abnormal spleen morphology, Hepa... |
OMIM:619488 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Short stature, Retinal coloboma, Neonatal short-trunk short stature, Mesomelic/rhi... |
ORPHA:2839 |
Anophthalmia Plus Syndrome |
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Iris coloboma, Spina bifida |
ORPHA:1104 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Rheumatic Fever |
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Pallor, Erythema |
ORPHA:3099 |
Schisis Association |
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Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Developmental And Epileptic Encephalopathy 50 |
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Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis |
OMIM:616457 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
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Postnatal growth retardation, Cervical spina bifida, Growth delay, Chorioretinal coloboma |
OMIM:600122 |
Infection-Related Hemolytic Uremic Syndrome |
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Pancreatitis, Leukocytosis, Pallor, Hemolytic anemia, Thrombocytopenia |
ORPHA:544482 |
Myopathy, Mitochondrial, And Ataxia |
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Pallor, Growth delay, Short stature |
OMIM:617675 |
Histiocytoid Cardiomyopathy |
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Congenital aphakia, Corneal opacity, Hydrocephalus, Hepatomegaly, Pallor, Megalocornea |
ORPHA:137675 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Short stature |
OMIM:259730 |
Kasabach-Merritt Syndrome |
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Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpura, Neutropenia, Microangiopathi... |
ORPHA:2330 |
Mosaic Trisomy 9 |
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Corneal opacity, Abnormal liver lobulation, Patent ductus arteriosus, Spina bifida, Intrauterine ... |
ORPHA:99776 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612926 |
Fountain Syndrome |
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Spina bifida, Erythema, Spina bifida occulta, Short stature |
ORPHA:3219 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Polycythemia, Pallor, Pancreatic cysts, Pancreatic islet cell adenoma |
ORPHA:892 |
Chiari Malformation Type Ii |
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Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Tangier Disease |
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Corneal opacity, Hepatosplenomegaly, Dry skin, Anemia, Thrombocytopenia |
ORPHA:31150 |
Focal Dermal Hypoplasia |
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Corneal opacity, Acute hepatic failure, Erythema, Iris coloboma, Hypoplasia of the iris, Patent d... |
ORPHA:2092 |
Fanconi Anemia |
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Intrauterine growth retardation, Abnormality of the liver, Hydrocephalus, Short stature, Leukopen... |
ORPHA:84 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Trisomy 18 |
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Short stature, Holoprosencephaly, Anencephaly, Microcornea, Iris coloboma, Cataract, Cyclopia, Gr... |
ORPHA:3380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Buphthalmos, Pallor, Megalocornea, Opacification of the corneal stroma, Coloboma, ... |
OMIM:253280 |
Thrombocytopenia-Absent Radius Syndrome |
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Corneal opacity, Leukocytosis, Short stature, Eosinophilia, Hepatosplenomegaly, Cataract, Patent ... |
OMIM:274000 |
Tay-Sachs Disease |
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Pallor |
OMIM:272800 |
Hereditary Pheochromocytoma-Paraganglioma |
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Pallor, Aniridia |
ORPHA:29072 |
Cone-Rod Dystrophy 8 |
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Pallor |
OMIM:605549 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida, Heterochromia iridis |
ORPHA:894 |
Nail-Patella Syndrome |
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Microphakia, Short stature, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pteryg... |
OMIM:161200 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Pallor |
ORPHA:276621 |
Jacobsen Syndrome |
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Annular pancreas, Short stature, Microcornea, Iris coloboma, Cataract, Growth delay, Thrombocytop... |
ORPHA:2308 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Limb Body Wall Complex |
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Myelomeningocele, Corneal opacity, Hydrocephalus, Lens subluxation, Short umbilical cord, Anencep... |
ORPHA:2369 |
Fibular Hemimelia |
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Abnormal anterior chamber morphology, Thrombocytopenia, Spina bifida |
ORPHA:93323 |
Prolactinoma |
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Pallor, Delayed puberty |
ORPHA:2965 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Hydrocephalus, Splenomegaly, Corneal neovascularization, Short stature, Hypoplasi... |
ORPHA:567 |
Neu-Laxova Syndrome 2 |
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Intrauterine growth retardation, Spina bifida, Cataract |
OMIM:616038 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida, Patent ductus arteriosus |
ORPHA:1120 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
Alternating Hemiplegia Of Childhood |
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Pallor, Mydriasis |
ORPHA:2131 |
Hallermann-Streiff Syndrome |
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Dry skin, Optic disc coloboma, Iris coloboma, Cataract, Proportionate short stature, Spina bifida... |
OMIM:234100 |
Neu-Laxova Syndrome |
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Lack of skin elasticity, Cataract, Pterygium, Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Esophageal Atresia |
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Pallor, Growth delay, Coloboma |
ORPHA:1199 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor, Neoplasm of the liver, Prominent corneal nerve fibers |
ORPHA:653 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Vacterl With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Microcornea, Arrhinencephaly, Spina bifida, Intrauterine grow... |
ORPHA:3412 |
Cerebrocostomandibular Syndrome |
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Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... |
ORPHA:1393 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Neu-Laxova Syndrome 1 |
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Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Cataract,... |
OMIM:256520 |
Pagod Syndrome |
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Short stature, Abnormality of the spleen, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Blue irides, Heterochromia iridis, Spina bifida |
OMIM:193500 |
Basal Cell Nevus Syndrome |
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Iris coloboma, Spina bifida, Cataract, Hydrocephalus |
OMIM:109400 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Rhizomelia, E... |
ORPHA:63259 |
Tsh-Secreting Pituitary Adenoma |
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Pallor, Delayed puberty |
ORPHA:91347 |
Aicardi Syndrome |
|
Hepatoblastoma, Optic disc coloboma, Cataract, Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Short stature, Retinal coloboma, Coloboma, Iris coloboma, Spin... |
ORPHA:508498 |
Rubinstein-Taybi Syndrome 1 |
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Growth delay, Short stature, Accessory spleen, Hepatic hemangioma, Spina bifida occulta, Coloboma... |
OMIM:180849 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
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 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida, Patent ductus arteriosus, Cyst of the ductus choledochus |
OMIM:619480 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Short stature, Lisch nodules, Spina bifida |
OMIM:162200 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Campomelic Dysplasia |
|
Disproportionate short-limb short stature, Neonatal short-limb short stature, Hydrocephalus, Spin... |
OMIM:114290 |
Vater/Vacterl Association |
|
Intrauterine growth retardation, Patent ductus arteriosus, Postnatal growth retardation, Spina bi... |
OMIM:192350 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor, Patent ductus arteriosus, Hepatomegaly |
ORPHA:99125 |
Split Cord Malformation |
|
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele, Penetr... |
ORPHA:573278 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |