Melorheostosis With Osteopoikilosis |
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Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Ghosal Hematodiaphyseal Dysplasia |
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Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Caffey Disease |
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Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Pathologic fracture, Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of ... |
ORPHA:166277 |
Proteus Syndrome |
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Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h... |
OMIM:176920 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Metatropic Dysplasia |
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Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
Familial Expansile Osteolysis |
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Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Ck Syndrome |
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Abnormal cortical bone morphology, Slender build, Joint hypermobility |
OMIM:300831 |
Pyle Disease |
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Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Cranio-Osteoarthropathy |
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Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Grant Syndrome |
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Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Osteogenesis Imperfecta, Type Xxii |
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Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im... |
OMIM:619795 |
Lethal Congenital Contracture Syndrome Type 1 |
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Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
Dentin Dysplasia With Sclerotic Bones |
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Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Caffey Disease |
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Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:600081 |
Gorham-Stout Disease |
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Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Thin bony cortex |
OMIM:619638 |
Weismann-Netter Syndrome |
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Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell... |
OMIM:301078 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Recurrent fractures, Joint hypermobility, Umbilical hernia, Generalized osteoporosi... |
OMIM:617952 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:264700 |
Melnick-Needles Syndrome |
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Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy... |
ORPHA:2484 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... |
OMIM:277440 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Thrombocytopenia 6 |
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Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Nasu-Hakola Disease |
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Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal a... |
ORPHA:2770 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Essential Thrombocythemia |
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Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Acute Panmyelosis With Myelofibrosis |
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Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
Dent Disease 1 |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Gray Platelet Syndrome |
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Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
Myelofibrosis |
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Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
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Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Osteopetrosis, Autosomal Recessive 8 |
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Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Gm1-Gangliosidosis, Type Ii |
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Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony cortex |
OMIM:230600 |
Bleeding Disorder, Platelet-Type, 17 |
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Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Pachydermoperiostosis |
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Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Abn... |
ORPHA:93160 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Dent Disease |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Stüve-Wiedemann Syndrome |
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Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Recurrent fractures, Flexion ... |
ORPHA:3206 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica... |
OMIM:613848 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Rothmund-Thomson Syndrome |
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Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:2909 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Fibrous dysplasia of th... |
ORPHA:249 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Familial Osteodysplasia, Anderson Type |
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Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Polycythemia Vera |
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Myelofibrosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Oculodentodigital Dysplasia |
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Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Cranial hyperostosis, H... |
ORPHA:2710 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:221008 |
Mulibrey Nanism |
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Enamel hypoplasia, Thickened cortex of long bones |
OMIM:253250 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:221016 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
Faciocardiomelic Syndrome |
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Osteopenia, Thin bony cortex, Large for gestational age |
OMIM:612731 |
Castleman Disease |
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Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Thrombocytopenia |
ORPHA:160 |
Estrogen Resistance |
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Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Splenomegaly, Osteopetrosis |
OMIM:618541 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Joint stiffness |
OMIM:277600 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Small for gestational age, Hypoglycemia,... |
OMIM:613658 |
Spondyloocular Syndrome |
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Osteopenia, Thin bony cortex, Decreased body weight |
OMIM:605822 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Myelofibrosis, Joint laxity, Inguinal hernia, Large for gestational age, Failure to thrive |
OMIM:607721 |
Aspartylglucosaminuria |
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Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Umbilical hernia, Abnormal cortical bo... |
ORPHA:93 |
Weill-Marchesani Syndrome 2 |
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Joint stiffness, Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Thin bo... |
OMIM:608328 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Hyperinsulinemia, Osteoporosis, Glucose intolerance |
ORPHA:785 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ... |
ORPHA:2780 |
Osteogenesis Imperfecta |
|
Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr... |
ORPHA:666 |
Craniotubular Dysplasia, Ikegawa Type |
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Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Dysostosis, Stanescu Type |
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Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... |
ORPHA:1798 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Abdominal obesity |
OMIM:219090 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Dorsocervical fat pad, Osteoporosis, Increased body weight, Increased susceptibility to fractures... |
ORPHA:189427 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Spina bifida occulta, Thickened cortex of long bones |
ORPHA:488434 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Elbow flexion contracture, Pathologic fracture, Knee flexion contracture, Camptodac... |
OMIM:601559 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... |
ORPHA:667 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr... |
OMIM:269150 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones |
ORPHA:97685 |