| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint hypermobility |
OMIM:259690 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density |
OMIM:620366 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... |
OMIM:611490 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density |
ORPHA:37748 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... |
ORPHA:2114 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... |
OMIM:259710 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... |
OMIM:616943 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Ca... |
OMIM:259700 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... |
ORPHA:79106 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... |
OMIM:600785 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... |
ORPHA:1782 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi... |
ORPHA:53 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Majeed Syndrome |
|
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... |
ORPHA:77297 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Wide anterior fontanel, Abnormal b... |
ORPHA:163649 |
| Idiopathic Hypercalciuria |
|
Osteoporosis, Osteopenia |
ORPHA:2197 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis |
ORPHA:94089 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... |
OMIM:259730 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Spina bifida occulta, I... |
ORPHA:2780 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures |
OMIM:239000 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Anemia, Cortical thickening of long bone diaphyses, Increased bone miner... |
OMIM:131300 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi... |
OMIM:259720 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... |
ORPHA:763 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... |
OMIM:600081 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr... |
ORPHA:77261 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... |
OMIM:241530 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Poems Syndrome |
|
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega... |
ORPHA:2905 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia |
OMIM:612301 |
| 12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Tooth abscess, Arthritis, Enth... |
ORPHA:89936 |
| Erdheim-Chester Disease |
|
Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Gaucher Disease |
|
Splenic infarction, Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ... |
ORPHA:355 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... |
OMIM:300009 |
| Trichothiodystrophy |
|
Osteopenia, Increased mean corpuscular hemoglobin concentration, Multiple joint contractures, Neu... |
ORPHA:33364 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... |
ORPHA:90652 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... |
OMIM:264700 |
| Raine Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation |
OMIM:259775 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... |
OMIM:277440 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas... |
ORPHA:289157 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Osteop... |
ORPHA:800 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Ectopic ossification, Reduced bone mineral density, Hyperostosis ... |
ORPHA:79443 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra... |
ORPHA:2909 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Dent Disease |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... |
ORPHA:1652 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... |
ORPHA:79474 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Osteopetrosis, Anemia, Craniosynostosis, Reduced bone mineral density, Recurrent fr... |
ORPHA:667 |
| Rothmund-Thomson Syndrome Type 2 |
|
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis... |
ORPHA:221016 |
| Rothmund-Thomson Syndrome Type 1 |
|
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, N... |
ORPHA:221008 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Anemia, Recurrent frac... |
ORPHA:2785 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Joint stiffness, Joint hypermobility, Spina bifida occulta, Rad... |
ORPHA:904 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Splenopancreatic fusion, Thickened cortex of long bones, Sclerosis of skull base, Increased densi... |
OMIM:269150 |
