Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly |
ORPHA:46532 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis |
ORPHA:2760 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... |
OMIM:231095 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra... |
OMIM:609628 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Tracheomalacia, Macrocytic anemia |
OMIM:612561 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Anemia, Th... |
OMIM:611490 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Rickets |
OMIM:611590 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... |
OMIM:259710 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Osteoporosis, Macrocytic anemia, Pancytopenia |
ORPHA:2169 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Osteopenia, Osteoporosis, Macrocytic anemia, Neutropenia |
OMIM:612562 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Anemia, Throm... |
ORPHA:848 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Increased bone mineral density, Craniosynostosis, Splenomegaly, Osteopetrosis, Pat... |
OMIM:259700 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Oste... |
ORPHA:53 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr... |
OMIM:259730 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Osteomyelitis, Osteopenia, Leukopenia, Aplastic a... |
ORPHA:811 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... |
ORPHA:77259 |
Majeed Syndrome |
|
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... |
OMIM:131300 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteope... |
OMIM:259720 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... |
ORPHA:77261 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Myelofibrosis |
ORPHA:160 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Flexion contracture |
ORPHA:98791 |
Diastrophic Dysplasia |
|
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density |
ORPHA:628 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Sclerosis of hand ... |
ORPHA:2905 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... |
ORPHA:93284 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Dysosteosclerosis |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... |
ORPHA:1782 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Osteopetrosis, Autosomal Recessive 7 |
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Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly |
OMIM:612301 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Shwachman-Diamond Syndrome 1 |
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Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Gaucher Disease |
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Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Splenomegaly... |
ORPHA:355 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density |
ORPHA:94089 |
Erdheim-Chester Disease |
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Osteomyelitis, Anemia, Osteolysis, Increased bone mineral density |
ORPHA:35687 |
Tempi Syndrome |
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Polycythemia, Increased hematocrit |
ORPHA:284227 |
Pycnodysostosis |
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Increased bone mineral density, Coronal craniosynostosis, Hepatosplenomegaly, Generalized osteosc... |
ORPHA:763 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Osteopetrosis, Splenomegaly |
OMIM:618541 |
Trichothiodystrophy |
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Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Osteopenia, Increa... |
ORPHA:33364 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis |
OMIM:239000 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... |
ORPHA:2780 |
Craniometaphyseal Dysplasia |
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Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Abcd Syndrome |
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Polycythemia |
OMIM:600501 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Thymoma |
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Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Le... |
ORPHA:99867 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Desmosterolosis |
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Osteopetrosis, Increased bone mineral density, Splenomegaly |
ORPHA:35107 |
Dysosteosclerosis |
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Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... |
OMIM:224300 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Tricho-Dento-Osseous Syndrome |
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Increased bone mineral density |
ORPHA:3352 |
Eisenmenger Syndrome |
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Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
12Q14 Microdeletion Syndrome |
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Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
Autoimmune Hypoparathyroidism |
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Increased bone mineral density |
ORPHA:36913 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Werner Syndrome |
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Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
Dysostosis, Stanescu Type |
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Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Osteopetrosis |
OMIM:617306 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Joint stiffness, Anemia, Flexion contracture, Abnormal hemoglobin |
ORPHA:847 |
Lead Poisoning |
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Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Cranial hyperostosis |
ORPHA:330015 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Craniosynostosis, Osteopetrosis, Splenomegaly, Reduced bone mineral density,... |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Osteopetrosis, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocyto... |
ORPHA:2785 |
Otopalatodigital Syndrome Type 2 |
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Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... |
ORPHA:90652 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... |
ORPHA:2658 |
Schwartz-Jampel Syndrome |
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Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... |
ORPHA:800 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... |
ORPHA:89936 |
Pycnodysostosis |
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Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Raine Syndrome |
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Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation |
OMIM:259775 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Osteopetrosis |
OMIM:618476 |
Pseudohypoparathyroidism Type 1A |
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Ectopic ossification, Increased bone mineral density, Hyperostosis frontalis interna, Reduced bon... |
ORPHA:79443 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis |
OMIM:241410 |
Pseudohypoparathyroidism Type 1C |
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Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Desmosterolosis |
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Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Hyperoxaluria, Primary, Type I |
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Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Atypical Werner Syndrome |
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Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Progressive clavicula... |
ORPHA:79474 |
Cleidocranial Dysplasia 1 |
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Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
Sanjad-Sakati Syndrome |
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Patchy osteosclerosis |
ORPHA:2323 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
Williams Syndrome |
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Joint stiffness, Increased bone mineral density, Osteopenia, Osteoporosis, Synostosis of joints, ... |
ORPHA:904 |
Primary Hyperoxaluria |
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Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Sclerosis of skull base, Splenopancreatic fusion, Thickened cort... |
OMIM:269150 |