| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| 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 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Osteopenia, Short neck, Scoliosis, Intervertebral... |
OMIM:271530 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| 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 |
| Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Kyphosis |
OMIM:277950 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... |
ORPHA:2114 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Ollier Disease |
|
Joint stiffness, Neoplasm, Chondrosarcoma, Lymphangioma, Hemangioma, Platyspondyly, Osteolysis, M... |
ORPHA:296 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... |
OMIM:271630 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Thickened cortex of long bones |
ORPHA:53697 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... |
ORPHA:1426 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Hip osteoarthritis, Knee osteoarthritis, ... |
ORPHA:2619 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly |
OMIM:617719 |
| Pyle Disease |
|
Platyspondyly, Scoliosis, Limited elbow extension, Reduced bone mineral density |
OMIM:265900 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... |
OMIM:610967 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
| Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Joint laxity, Elbow flexion co... |
OMIM:259450 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... |
OMIM:313420 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Osteoporosis |
OMIM:618234 |
| Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... |
ORPHA:2635 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Lymphangioma, Lipoma, Splenomegaly, Calvarial hyperostosis... |
OMIM:176920 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck |
OMIM:616583 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones |
OMIM:618392 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Osteopenia, Scoliosis, Joint laxity, Increased susceptibility to fractures, Premature o... |
OMIM:130060 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Bowing... |
OMIM:259440 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Osteoporosis of vertebrae, Multiple small vertebral fractures |
OMIM:156510 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... |
OMIM:604864 |
| Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Exostoses, Generalized joint laxity, Osteoarthriti... |
ORPHA:85198 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:234250 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Arthrogry... |
ORPHA:2771 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Interverteb... |
ORPHA:93284 |
| Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis, Osteoporosis |
OMIM:617190 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:126550 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis |
ORPHA:71267 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Increased bone mineral density, Platyspondyly, Scoliosis, Osteoporosis, Joint hyp... |
OMIM:614856 |
| Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... |
OMIM:136300 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Increased intervertebral space, Lumbar platyspondyly, Patent ductus ... |
OMIM:618961 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Pseudoachondroplasia |
|
Limited hip extension, Joint stiffness, Delayed epiphyseal ossification, Lumbar hyperlordosis, Be... |
ORPHA:750 |
| Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Costal cartilage calcification, Scoliosis,... |
OMIM:222600 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, Camptodactyly of ... |
OMIM:208230 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
| Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Osteoporotic tarsals, Platyspondyly, Ovoid vertebral bodies |
OMIM:609052 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
| Spondylocamptodactyly |
|
Camptodactyly of finger, Cervical platyspondyly, Scoliosis, Camptodactyly |
OMIM:600000 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thoracic kyphosis, Platyspondyly, Thin bony cortex |
OMIM:619638 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Elbow flexion contracture |
OMIM:601561 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis, Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Scoliosis, Osteoporosis, Vertebral compression fracture |
OMIM:616507 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... |
OMIM:600175 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Platyspondyly, Flexion contracture |
ORPHA:157965 |
| Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Platyspondyly, Scoliosis, ... |
OMIM:156530 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, ... |
OMIM:602557 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint contracture of the hand, Platys... |
ORPHA:1159 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Bruck Syndrome 2 |
|
Flexion contracture, Osteopenia, Platyspondyly, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Platyspondyly, Osteoporosis, Fractures of the long bones |
ORPHA:319195 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis |
OMIM:300718 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... |
ORPHA:93346 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Sea-blue histiocytosis, Beaking of vertebral bodies, Hypoplastic vertebral bodie... |
OMIM:230600 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cervical spine |
ORPHA:48431 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Squared-off platyspondyly, Narrow vertebral interpedicular dista... |
ORPHA:93352 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... |
ORPHA:289176 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process, D... |
OMIM:184250 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormality of the vertebral endplates, Platyspondyly, Limited elbow extension, Ovoid vertebral b... |
ORPHA:1856 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Scoliosis, Hyperlordosis, Reduced bone mineral density |
ORPHA:262 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis, Flexion contracture, Distal joint laxity |
OMIM:616471 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Platyspondyly, Scoliosis, Osteoporosis, Joint hypermobility |
OMIM:619131 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Absent ossification of thoracic vertebral bodie... |
OMIM:601376 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... |
OMIM:609616 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Joint stiffness, Flexion contracture, Absent ossification of capital femoral epiphysis, Short nec... |
OMIM:245160 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Increased bone mineral density, Visceral angiomatosis, Camptodactyly o... |
ORPHA:628 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Abnormal cortical bone morpho... |
ORPHA:3344 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Lumbar scoliosi... |
OMIM:609128 |
| Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Atlantoaxial insta... |
OMIM:607326 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Coronal cleft vertebrae, Increas... |
ORPHA:93314 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Short neck, Osteoporosis, Thoracic kyphosis, Abnormal intervertebral disk morpholo... |
ORPHA:85194 |
| Maffucci Syndrome |
|
Recurrent fractures, Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Br... |
ORPHA:163634 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Short neck, Platyspondyly, Anisospond... |
ORPHA:163649 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... |
OMIM:231070 |
| Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Joint laxity, Increased suscep... |
OMIM:610968 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... |
ORPHA:99642 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Scoli... |
OMIM:166220 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Limitation of joint mobi... |
ORPHA:93351 |
| Sialidosis Type 2 |
|
Kyphosis, Osteoporosis, Flexion contracture, Splenomegaly |
ORPHA:87876 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis |
OMIM:230650 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Osteopenia, Camptod... |
OMIM:612350 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis, Massively thickened long bone cortices |
OMIM:122900 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Reduced bone m... |
ORPHA:94068 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis |
OMIM:618728 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short neck, Decreased skull ossification |
ORPHA:93267 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delayed calcaneal ossification, Short n... |
OMIM:183900 |
| Flynn-Aird Syndrome |
|
Kyphosis, Joint stiffness, Bone cyst, Scoliosis |
ORPHA:2047 |
| Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Generalized bone demineralization, Decreased anterio... |
ORPHA:3101 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:600081 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Neoplasm, Kyphosis, Osteoporosis |
OMIM:219080 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Cantu Syndrome |
|
Platyspondyly, Short neck, Osteoporosis, Patent ductus arteriosus, Cuboid-shaped vertebral bodies... |
OMIM:239850 |
| Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Osteoporosis, Scoliosi... |
OMIM:253000 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Platyspondyly, Joint la... |
OMIM:615349 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Frank-Ter Haar Syndrome |
|
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis, Osteo... |
ORPHA:137834 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Delayed ossification of carpal bones, Short neck, Platyspondyly, Scoliosis, Elbow... |
OMIM:184252 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis |
ORPHA:85174 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Short neck, Spina bifida occulta, Reduced bone mineral density |
ORPHA:2983 |
| Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Hyperlordosis, Joint laxity, Ovoid vertebral bo... |
OMIM:253010 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Irregularity of vertebral bodies |
OMIM:609324 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Kyphosis, Lumbar hyperlordosis, Beaking o... |
OMIM:177170 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Biconcave vertebral bodies, Scol... |
OMIM:259420 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Laryngotracheomalacia, Delayed epiphyseal ossification, Kyphosis, Kyphoscoliosis, Generalized joi... |
ORPHA:93360 |
| Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Biconvex vertebral bodies, Platyspondyly, Scoliosis, Osteop... |
OMIM:184260 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Lambdoidal craniosynostosis |
OMIM:616294 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Platyspondyly, Short neck, Scolios... |
ORPHA:582 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Osteopenia, Decreased calvarial ossification, Platyspondyly, Scoli... |
OMIM:610915 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:618291 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Kyphosis, Platyspondyly |
OMIM:618476 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Limited elbow extension, J... |
ORPHA:93359 |
| Joint Laxity, Short Stature, And Myopia |
|
Osteopenia, Kyphoscoliosis, Short neck |
OMIM:617662 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Short neck,... |
OMIM:255800 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Camptodactyly of finger, Short neck, Osteoporosis, Flexion contrac... |
ORPHA:3409 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Osteopenia, Platyspondyly, Short neck, Thoracolumbar scoliosis |
OMIM:616723 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Lumbar hyperlordosis, Reduced bone mineral density, Biconvex vertebra... |
ORPHA:93315 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... |
OMIM:256050 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Delayed ossification of carpal bones, Osteopenia, Platyspondyly, Scoliosis, A... |
ORPHA:168549 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Osteosclerosis of ribs, Abnor... |
ORPHA:174 |
| Alpha-Mannosidosis |
|
Kyphosis, Splenomegaly, Short neck, Scoliosis, Synostosis of joints, Arthritis, Craniofacial hype... |
ORPHA:61 |
| Kniest Dysplasia |
|
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... |
ORPHA:485 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Achilles tendon co... |
OMIM:615290 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoaxial disloca... |
OMIM:607095 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Severe platyspondyly, Short neck, Decreased cranial base ossification |
OMIM:151210 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Scoliosis, Splenomegaly |
OMIM:602271 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Platyspondyly, Vertebral compr... |
OMIM:616229 |
| Sandhoff Disease |
|
Kyphosis, Splenomegaly |
ORPHA:796 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Decreased skull ossification |
OMIM:300863 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... |
OMIM:313400 |
| Rothmund-Thomson Syndrome |
|
Reduced bone mineral density, Osteopenia, Melanoma, Aplastic anemia, Abnormal trabecular bone mor... |
ORPHA:2909 |
| Desbuquois Dysplasia 1 |
|
Kyphosis, Advanced ossification of carpal bones, Osteoarthritis, Short neck, Platyspondyly, Osteo... |
OMIM:251450 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Glioma, Platyspondyly, Osteoporosis, Pathologic fracture, Increased susceptibilit... |
OMIM:259770 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Limitation of joint mobility, Congenital foot contractures |
ORPHA:3454 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis, Osteoporosis, Flexion contracture |
OMIM:615381 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Scoliosis |
ORPHA:1548 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multip... |
OMIM:615220 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Otospondylomegaepiphyseal Dysplasia |
|
Lumbar hyperlordosis, Abnormally ossified vertebrae, Osteoarthritis, Platyspondyly, Short neck, A... |
ORPHA:1427 |
| Gaucher Disease Type 1 |
|
Kyphosis, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, P... |
ORPHA:77259 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Exostoses, Shor... |
ORPHA:1798 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones... |
OMIM:271510 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes |
OMIM:301900 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:264700 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... |
ORPHA:75840 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... |
OMIM:271650 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... |
ORPHA:536516 |
| Kniest Dysplasia |
|
Hip contracture, Delayed epiphyseal ossification, Tracheomalacia, Short neck, Platyspondyly, Lumb... |
OMIM:156550 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Melanoma, Synostosis involving bones of the upper limbs, Aplastic anemia, Abnormal tr... |
ORPHA:221016 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Joint stiffness, Thoracic scoliosis, Osteoarthritis, Biconcave vertebral bodies, Abnormal lumbar ... |
ORPHA:166011 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Sclerosis of skull base, Hypoplastic vertebral bodies, Increased i... |
OMIM:224300 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Anemia, Scoliosis |
ORPHA:2598 |
| Schimke Immunoosseous Dysplasia |
|
Neutropenia, Lymphopenia, Lumbar hyperlordosis, Osteopenia, Short neck, Platyspondyly, Thrombocyt... |
OMIM:242900 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fractures |
OMIM:166210 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Irregular tarsal ossification, Ivory epiphyses of the phalanges of... |
OMIM:226980 |
| Osteogenesis Imperfecta, Type X |
|
Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Joint laxity, Vertebral compressi... |
OMIM:613848 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Melanoma, Aplastic anemia, Finger symphalangism, Abnormal trabecular bone morphology,... |
ORPHA:221008 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Vertebral clefting, Decreased calvarial ossification, Platyspondyly, Increased ... |
OMIM:241500 |
| Fountain Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Coarse metaphys... |
ORPHA:3219 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
| Cantú Syndrome |
|
Platyspondyly, Short neck, Osteoporosis, Patent ductus arteriosus, Cuboid-shaped vertebral bodies... |
ORPHA:1517 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:277440 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Kyphoscoliosis, Platyspondyly, Scoliosis |
ORPHA:93316 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:611890 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:178148 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Osteopenia, Scoliosis, Osteoporosis, Bicoronal synostosis, Joint hypermobility |
OMIM:619718 |
| Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
OMIM:300009 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture |
OMIM:618237 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Delayed ossification of carpal bones, Lymphopenia, Cervical instability, Eosinoph... |
OMIM:617425 |
| Metaphyseal Acroscyphodysplasia |
|
Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Hypoplasia of the odontoi... |
OMIM:250215 |
| Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility |
ORPHA:250984 |
| Cowden Syndrome |
|
Bone cyst, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neoplasm of the central ... |
ORPHA:201 |
| Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Short neck, Plat... |
OMIM:269250 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture |
OMIM:618658 |
| Thanatophoric Dysplasia |
|
Kyphosis, Joint stiffness, Platyspondyly, Patent ductus arteriosus, Abnormal sacroiliac joint mor... |
ORPHA:2655 |
| Stickler Syndrome Type 1 |
|
Osteoarthritis, Platyspondyly, Joint hyperflexibility, Abnormality of vertebral epiphysis morphology |
ORPHA:90653 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Sclerosis of skull base, Lumbar hyperlordosis, Lymphopenia, Kyphos... |
OMIM:607944 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Osteopenia, Short neck, Platyspondyly, Fractured radius, Decreased skull oss... |
OMIM:616897 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... |
ORPHA:289157 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, Platyspondyly, S... |
OMIM:612394 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... |
OMIM:601216 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
| Odontochondrodysplasia |
|
Patent ductus arteriosus, Platyspondyly, Scoliosis, Joint hyperflexibility |
ORPHA:166272 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Craniosynostosis, Osteopenia, Ossifying fibroma of t... |
ORPHA:457395 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly |
OMIM:612301 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Flexion contracture, Scoliosis, Arthrogr... |
OMIM:618484 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Widow'S Peak Syndrome |
|
Hip osteoarthritis, Kyphosis, Arthralgia/arthritis |
OMIM:314570 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis, Joint laxity |
OMIM:248760 |
| Czech Dysplasia |
|
Irregular vertebral endplates, Osteochondroma, Flexion contracture, Platyspondyly, Scoliosis, Tho... |
OMIM:609162 |
| Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Platyspondyly, Scoliosis, Absent or mi... |
ORPHA:1190 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Biconcave vertebral bodies, Osteoporosis, Vertebral compression frac... |
OMIM:219090 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Platyspondyly, Joint contracture of the 5th finger |
OMIM:601668 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Elbow flexion contracture, Knee flexion contracture, Ank... |
OMIM:619040 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Limitation of joint mobility |
OMIM:619598 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Spinal stenosis with reduced interpedicular distance, Flattened moderately deformed vertebrae |
OMIM:157151 |
| Gm1 Gangliosidosis |
|
Joint stiffness, Kyphosis, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Platyspondy... |
ORPHA:354 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Scoliosis, Joint contracture of the 5th finger, Arthrogr... |
ORPHA:352490 |
| Mucolipidosis Iii Gamma |
|
Kyphosis, Joint stiffness, Short neck, Scoliosis, Hyperlordosis |
OMIM:252605 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Limitation of joint mobility, Platyspondyly, Patent ductus arteriosus, Joint hyperflexi... |
ORPHA:93274 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Kyphosis, Patent ductus arteriosus, Scoliosis |
OMIM:619797 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis |
OMIM:239000 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Becker Nevus Syndrome |
|
Kyphosis, Hamartoma, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Patent duct... |
OMIM:130720 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis |
ORPHA:816 |
| Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Osteoarthritis, Platys... |
OMIM:108300 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies |
OMIM:608940 |
| Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossificatio... |
OMIM:223800 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility |
OMIM:614898 |
| Trisomy 20P |
|
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Camptodactyly of finger, P... |
ORPHA:261318 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
| Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Biconcave flattened vertebrae, Osteopenia, Increased susceptibility to fract... |
OMIM:166200 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
| Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
ORPHA:2169 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
| Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis, Limitation of joint mobility |
ORPHA:1545 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Anterior scalloping of vertebral bodies, Flexion contracture, Pl... |
OMIM:611717 |
| Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Limited elbow extension, Joint laxity, Bladder carcinoma, ... |
OMIM:304150 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Myelodysplasia, Bicoronal synostosis, Joint hypermo... |
OMIM:619951 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Short neck, Platyspondyly, Scoliosis, Joint laxity |
OMIM:618395 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis |
OMIM:615761 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Scolios... |
ORPHA:3042 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Vertebral wedging, Decreased calvarial ossification, Platyspondyly |
OMIM:617866 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, At... |
ORPHA:536467 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis, Joint hyperflexibility |
ORPHA:2181 |
| Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Osteopenia, Scoliosis, Joint hyperflexibility |
ORPHA:2479 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Flexion contracture, Hyperlordosis |
OMIM:255200 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Joint stiffness, Kyphosis, Spinal rigidity, Exostoses, Proximal radio-ulnar synostosis, Hemiverte... |
ORPHA:2062 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Scoliosis, Limited elbow movement |
OMIM:300280 |
| Pycnodysostosis |
|
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Spondyloly... |
ORPHA:763 |
| Mucopolysaccharidosis, Type Vii |
|
Joint stiffness, Kyphosis, Flexion contracture, Splenomegaly, Anterior beaking of lumbar vertebra... |
OMIM:253220 |
| Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Increased suscep... |
ORPHA:2769 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Platyspondyly, Scoliosis |
OMIM:619269 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Joint hype... |
ORPHA:2789 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Lymphopenia, Increased intervertebral space, Craniosynostosis, Ce... |
ORPHA:508533 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Limited elbow extension |
OMIM:608728 |
| Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Limited elbow extension |
OMIM:180870 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Limitation of joint mobility |
ORPHA:3098 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis |
OMIM:156500 |
| Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Clark-Baraitser syndrome |
|
Kyphosis, Joint laxity, Scoliosis |
OMIM:300602 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Lumbar hyperlordosis, Flexion contracture, Platyspondyly, Premature ... |
OMIM:215150 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Lymphopenia, Lymphoproliferative disorder, Short neck, Platyspondyly, Abnor... |
ORPHA:1830 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
| Distal Tetrasomy 15Q |
|
Kyphosis, Flexion contracture, Craniosynostosis, Nephroblastoma, Scoliosis, Camptodactyly, Patent... |
ORPHA:314588 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger |
ORPHA:1883 |
| Greenberg Dysplasia |
|
Recurrent fractures, Sclerosis of skull base, Hypoplastic vertebral bodies, Anterior rib punctate... |
OMIM:215140 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular vo |
