Acroosteolysis |
|
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes |
OMIM:102400 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis, Anemia |
ORPHA:158014 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
ORPHA:50809 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis |
ORPHA:668 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Ollier Disease |
|
Osteolysis, Anemia, Joint stiffness |
ORPHA:296 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... |
ORPHA:2774 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis |
OMIM:616033 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:614880 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... |
OMIM:612852 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... |
OMIM:259450 |
Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization |
ORPHA:2801 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Osteoporosis, Thrombocytopenia |
OMIM:614727 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Osteoporosis |
ORPHA:79301 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia |
OMIM:125700 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia |
ORPHA:324964 |
Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow... |
ORPHA:47612 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
Perrault Syndrome 1 |
|
Osteoporosis |
OMIM:233400 |
Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:2771 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures |
ORPHA:52430 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Hjv Or Hamp-Related Hemochromatosis |
|
Osteoporosis |
ORPHA:79230 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Osteoporosis |
ORPHA:319195 |
Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Osteoporosis |
ORPHA:369 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis |
OMIM:613849 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger |
ORPHA:48431 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures |
ORPHA:2788 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis |
OMIM:612463 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... |
ORPHA:2583 |
Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:618392 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... |
ORPHA:2848 |
Hall-Riggs Syndrome |
|
Osteoporosis |
OMIM:234250 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones |
ORPHA:93351 |
Immunodeficiency 12 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... |
OMIM:615468 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... |
OMIM:208230 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis |
OMIM:257200 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis |
ORPHA:77296 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leu... |
OMIM:620210 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... |
ORPHA:90153 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... |
ORPHA:85435 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis |
ORPHA:99879 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis |
OMIM:615830 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:214150 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis |
ORPHA:809 |
Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... |
OMIM:259100 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Propionic Acidemia |
|
Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Menkes Disease |
|
Joint laxity, Osteoporosis |
OMIM:309400 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density |
ORPHA:79239 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Rhyns Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:602152 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis |
OMIM:219080 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis |
OMIM:266510 |
Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis |
OMIM:610475 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis |
ORPHA:678 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
H Syndrome |
|
Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodactyly, Histiocytosis |
ORPHA:168569 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Geroderma Osteodysplastica |
|
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification |
ORPHA:2078 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Joint contracture, Osteoporosis |
OMIM:615381 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis |
OMIM:619718 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal splee... |
ORPHA:464329 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ... |
OMIM:259420 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility |
OMIM:184260 |
Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
Nasu-Hakola Disease |
|
Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density |
ORPHA:2770 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Limitation of joint mobility, Osteoporosis, Generalized osteoporosis |
OMIM:236200 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
OMIM:616507 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Osteoporosis |
OMIM:235200 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:785 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Splenomegaly, Recurrent fractures, Anemia |
OMIM:618107 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Osteoporosis of vertebrae |
OMIM:156510 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Osteoporosis |
OMIM:616200 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... |
OMIM:618000 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:613990 |
Pseudohypoparathyroidism, Type Ia |
|
Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density |
OMIM:620232 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Shoulder flexion contracture, Osteoporosis, Joint contracture of the hand, Wrist... |
OMIM:255800 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis |
OMIM:610489 |
Xp21 Deletion Syndrome |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:261476 |
19P13.3 Microduplication Syndrome |
|
Osteoporosis |
ORPHA:447980 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia |
ORPHA:35687 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... |
OMIM:251450 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... |
ORPHA:93284 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... |
OMIM:127550 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... |
ORPHA:309282 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis |
ORPHA:73272 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture |
OMIM:614438 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis |
OMIM:612462 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... |
ORPHA:955 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu... |
OMIM:212750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis |
OMIM:615398 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis |
OMIM:617190 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... |
ORPHA:94068 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Incontinentia Pigmenti |
|
Eosinophilia, Spina bifida occulta, Camptodactyly of finger, Osteolysis |
ORPHA:464 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures |
OMIM:620351 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91348 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Splenomegaly, Flexion contracture, Osteoporosis, Decreased circulating IgA level |
OMIM:613327 |
Cryptococcosis |
|
Lymphoid leukemia, Osteolysis, Osteomyelitis |
ORPHA:1546 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalangeal joints |
ORPHA:465508 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly |
ORPHA:432 |
Dietary Iron Overload Disease |
|
Osteoporosis |
ORPHA:139507 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:2326 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Anemia |
ORPHA:3042 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Arthritis, Increased... |
ORPHA:228123 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular... |
OMIM:612199 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification |
OMIM:226980 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur... |
ORPHA:1159 |
Macs Syndrome |
|
Joint laxity, Osteoporosis, Joint hypermobility |
OMIM:613075 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures |
ORPHA:90354 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility |
ORPHA:363705 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... |
OMIM:112240 |
Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis |
OMIM:219090 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... |
ORPHA:2909 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt... |
OMIM:222700 |
X Small Rings |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:96201 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop... |
ORPHA:2959 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Flexion contracture, Progressive clavicular acroosteol... |
OMIM:608612 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Osteoporosis, Joint stiffness |
OMIM:253010 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Farber Disease |
|
Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytopenia |
ORPHA:333 |
Adrenomyodystrophy |
|
Reduced bone mineral density |
ORPHA:977 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Osteoporosis |
OMIM:253000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul... |
OMIM:248370 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Osteoporosis, Gout, Neutropenia |
OMIM:232220 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi... |
OMIM:245600 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Osteolysis |
ORPHA:1052 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
Chime Syndrome |
|
Osteolysis, Acute leukemia |
ORPHA:3474 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... |
ORPHA:1900 |
Aromatase Deficiency |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:91 |
Cleidocranial Dysplasia |
|
Decreased skull ossification, Spina bifida occulta, Osteoporosis, Recurrent fractures |
ORPHA:1452 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Osteoporosis, Anemia |
ORPHA:79240 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis |
OMIM:300998 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Anemia |
ORPHA:264580 |
Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Anemia, Hepatosplenomegaly |
OMIM:619487 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Osteoporosis, Increased circulating IgA level |
ORPHA:186 |
Cerebrotendinous Xanthomatosis |
|
Osteoporosis |
OMIM:213700 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... |
OMIM:601812 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Gout |
OMIM:232200 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... |
ORPHA:221016 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:398079 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... |
OMIM:166220 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Osteolysis, Neutropenia |
ORPHA:73263 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen... |
ORPHA:221008 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... |
OMIM:259770 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo... |
ORPHA:1775 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... |
OMIM:102500 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:601559 |
Prolactinoma |
|
Osteopenia, Osteoporosis |
ORPHA:2965 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Osteoporosis |
ORPHA:398069 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... |
ORPHA:536467 |
Classic Homocystinuria |
|
Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:394 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Glass Syndrome |
|
Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc... |
ORPHA:171 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Lysinuric Protein Intolerance |
|
Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Decreased circulating antibody le... |
ORPHA:470 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis |
ORPHA:2232 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis |
OMIM:307030 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:739 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Osteoporosis |
ORPHA:98754 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ... |
OMIM:277900 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Osteoporosis |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Osteoporosis |
ORPHA:177904 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:176270 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Osteoporosis |
ORPHA:177901 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to fractures, Abnor... |
ORPHA:79259 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones |
ORPHA:97685 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... |
ORPHA:800 |
Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:488632 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Osteoporosis, Joint laxity |
OMIM:225400 |
Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility |
ORPHA:565 |
Occipital Horn Syndrome |
|
Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension |
OMIM:304150 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... |
OMIM:271640 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Osteoarthritis, Limitation of joint mobility, Osteolysis |
ORPHA:285 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr... |
ORPHA:77293 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:168558 |
X-Linked Intellectual Disability, Snyder Type |
|
Osteoporosis, Recurrent fractures, Camptodactyly |
ORPHA:3063 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:289548 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Osteoporosis |
ORPHA:254892 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... |
ORPHA:536471 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... |
OMIM:305000 |
Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis |
OMIM:268400 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoporosis, Joint hypermobility |
ORPHA:536545 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:90796 |
Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
Cystic Fibrosis |
|
Osteopenia, Osteoporosis |
ORPHA:586 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Osteoporosis |
OMIM:203700 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility |
ORPHA:558 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:909 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis |
ORPHA:99880 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:96253 |
Parathyroid Carcinoma |
|
Osteoporosis |
ORPHA:143 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Osteoporosis, Sagittal craniosynostosis |
OMIM:218330 |
Cockayne Syndrome B |
|
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... |
OMIM:133540 |
Congenital Disorder Of Deglycosylation 1 |
|
Osteoporosis |
OMIM:615273 |
Dpagt1-Cdg |
|
Flexion contracture, Osteoporosis, Anemia, Camptodactyly |
ORPHA:86309 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Flexion contracture, Osteoporosis |
ORPHA:365 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91347 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An... |
ORPHA:79408 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture |
OMIM:210730 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:619525 |
Wolf-Hirschhorn Syndrome |
|
Osteoporosis |
ORPHA:280 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia |
OMIM:301068 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Osteoporosis |
ORPHA:459070 |
46,Xy Partial Gonadal Dysgenesis |
|
Osteoporosis |
ORPHA:251510 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Osteoporosis, Anemia |
ORPHA:79404 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand |
OMIM:610168 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Asplenia, Patchy reduction of bone mineral den... |
ORPHA:221120 |
Vascular Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Osteoarthritis, Osteolysis |
ORPHA:286 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Anemia |
ORPHA:438213 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Osteoporosis, Reduced bone mineral density |
ORPHA:99226 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand |
OMIM:182250 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den... |
OMIM:259050 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... |
ORPHA:904 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:99889 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis |
OMIM:194050 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Osteoporosis, Impaired neutrophil chemotaxis |
ORPHA:79318 |