Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Osteoporosis, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet... |
OMIM:610947 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Delayed epiphyseal ossification, R... |
OMIM:600785 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... |
OMIM:619489 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Broad hallux, Fifth finger distal phalanx clino... |
OMIM:615923 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia,... |
ORPHA:2801 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Os... |
ORPHA:3409 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... |
OMIM:619795 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands |
ORPHA:50811 |
Idiopathic Hypercalciuria |
|
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis |
ORPHA:2197 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... |
OMIM:619073 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ... |
OMIM:616033 |
Prieto Syndrome |
|
Coxa valga, Osteoporosis, Talipes equinovarus, Radial deviation of finger, Clinodactyly |
OMIM:309610 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Abnormal circulating C-reactive protein conc... |
ORPHA:1159 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Finger clinodactyly, Coxa valga, Osteoporosis, Bilateral talipes equinovarus |
ORPHA:2958 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En... |
OMIM:208230 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi... |
ORPHA:319195 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis, Female hypogonadism |
ORPHA:397685 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ... |
OMIM:184260 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Subcutaneo... |
OMIM:103580 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, S... |
OMIM:612462 |
Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Metaphyseal w... |
OMIM:309400 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening... |
ORPHA:2788 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis, Delayed puberty |
ORPHA:369 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Osteoporosis |
ORPHA:71267 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Elevated circulating creat... |
OMIM:255800 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Osteoporosis, Hypothyroidism |
OMIM:618625 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Small pituitary gland, Genu valgum |
OMIM:614880 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Osteoporosis, Pseudohypoparathyroidism, Short metatarsal, Brachydactyly |
OMIM:612463 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Decreased circulating parathyroid hormo... |
OMIM:241530 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... |
OMIM:259450 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P... |
OMIM:602152 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
ORPHA:99879 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... |
OMIM:300554 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B... |
OMIM:613849 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Sho... |
OMIM:608154 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Talipes equinovarus |
OMIM:233400 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Osteoporosis, Brachydactyly |
OMIM:234250 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, S... |
OMIM:235200 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... |
ORPHA:2771 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated... |
OMIM:618187 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Increased HbA2 hemoglobin, Diabetes mellitus, Extramedullary hema... |
ORPHA:231222 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Clubbing, Osteoporosis, Absent isohemagglutinin level, Complete or nea... |
OMIM:615468 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Bowing of the arm, ... |
OMIM:619131 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:614838 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Osteoporosis, Joint hypermobility |
OMIM:600118 |
Estrogen Resistance Syndrome |
|
Osteopenia, Increased circulating gonadotropin level, Delayed epiphyseal ossification, Absence of... |
ORPHA:785 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:139507 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Painless fractures due ... |
ORPHA:2583 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa vara, Short femoral n... |
ORPHA:2848 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Osteoporosis |
OMIM:601979 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... |
OMIM:265900 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den... |
OMIM:618392 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... |
ORPHA:3344 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... |
ORPHA:66627 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... |
ORPHA:289157 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia... |
ORPHA:2169 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph... |
OMIM:156510 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Osteoporosis |
ORPHA:79301 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Abnormal hip bone morph... |
ORPHA:577 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Diabetes mellitus, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:610628 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... |
ORPHA:94068 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Flexion contracture, Osteoporosis, Elbow flexion contracture, Kne... |
OMIM:214150 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Hypogonadism, Clinodactyly of the 5th finger, Clinodactyly, Neonatal hyperbilirubin... |
ORPHA:73272 |
Cantu Syndrome |
|
Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Osteoporosis, Broad first metatarsa... |
OMIM:239850 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Osteoporosis, Male hypogonadism, Joint contracture |
OMIM:615381 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Osteomalacia, Bowing of the legs, Delay... |
OMIM:300009 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe... |
ORPHA:371428 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased circulating cortisol ... |
OMIM:615830 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Hypermethioninem... |
OMIM:236200 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ... |
ORPHA:1901 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia |
OMIM:606054 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Extramedullary hematopoiesis, De... |
ORPHA:231226 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis, Decreas... |
OMIM:614732 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase... |
OMIM:219080 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Joint stiffness, Splenomegaly, Reduced bone mineral density, Decreased circulating t... |
OMIM:620210 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bon... |
ORPHA:93160 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip... |
ORPHA:447980 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Abnormal erythrocyte enzyme level, Osteoporosis, Re... |
ORPHA:79239 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Osteoporosis |
OMIM:601811 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Osteoarthritis, Generalized joint laxity, Osteoporosis, Squared iliac ... |
OMIM:618000 |
Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo... |
ORPHA:2078 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... |
ORPHA:91348 |
Ruijs-Aalfs Syndrome |
|
Down-sloping shoulders, Elbow flexion contracture, Osteoporosis, Hypogonadism, Clinodactyly |
OMIM:616200 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Joint stiffness, Epiphyseal deformities of tubular bones, Coxa valga, Metaphyseal w... |
OMIM:253010 |
Aromatase Deficiency |
|
Osteopenia, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, Hyperlipidemia, Oste... |
ORPHA:91 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os... |
OMIM:601559 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis |
OMIM:257200 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Anemia, Decreased circulating ... |
OMIM:612301 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Iron deficiency anemia, Hypocalcemia, Dela... |
OMIM:212750 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... |
OMIM:620351 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg... |
OMIM:271640 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Generalized joint laxity, Absence... |
ORPHA:432 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Congenital h... |
OMIM:244460 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Shoulder dislocation, Dislocated radial head, Rhizomelia, Spatulate thumbs, Osteoporo... |
OMIM:245600 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... |
OMIM:602080 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Camptodactyly of finger, Micromelia, M... |
ORPHA:3206 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Increased circulating gonadotropin level, Hypoplasia of the ovary, Ost... |
OMIM:615300 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Nasu-Hakola Disease |
|
Limitation of joint mobility, Bone cyst, Acute leukemia, Reduced bone mineral density, Abnormal e... |
ORPHA:2770 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala... |
OMIM:259100 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Trip... |
OMIM:612562 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland,... |
ORPHA:186 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98754 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Osteopor... |
OMIM:253000 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Osteoporosis, ... |
ORPHA:398079 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Hypergonadotropic hypogonadism, Microcytic anemia, Insul... |
ORPHA:2959 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98793 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:222700 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Osteomalacia, Re... |
ORPHA:1652 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... |
OMIM:304150 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... |
ORPHA:96201 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177901 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Osteoporosis, Increased circulating ACTH level, Pituitary adenoma |
OMIM:219090 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr... |
OMIM:612199 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:601812 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Abnormal metaphy... |
ORPHA:1517 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... |
ORPHA:79240 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimu... |
OMIM:176270 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Calcinosis, Short metacarpal, Abnormal trabecular bone morphology, Aplastic anemia, M... |
ORPHA:221008 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hypercalcemia, Metaphy... |
OMIM:156400 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... |
ORPHA:739 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,... |
OMIM:613990 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin leve... |
ORPHA:2232 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Wrist flexion contract... |
ORPHA:800 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... |
ORPHA:536467 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Hypothyroidism, Anemia |
OMIM:619487 |
Prolactinoma |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... |
ORPHA:2965 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture, Osteoporosi... |
OMIM:614008 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Osteoporosis, Lambdoidal craniosynostosis |
OMIM:615398 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis |
OMIM:617190 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Calcinosis, Short metacarpal, Abnormal trabecular bone morphology, Aplastic anemia, A... |
ORPHA:221016 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Increased circulating gonadotropin level, Reduced bone ... |
ORPHA:243 |
Lathosterolosis |
|
Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis... |
OMIM:607330 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis, Th... |
ORPHA:902 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation test, Osteoporosis, ... |
ORPHA:488632 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Osteoporosis, Neutropenia, Gout, Hyperuricemia, Delayed puberty |
OMIM:232220 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Calcinosis, Abnormal trabecular bone morphology, Aplastic ane... |
ORPHA:2909 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o... |
ORPHA:97289 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, 2-3 toe cuta... |
OMIM:300998 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Metatarsus adductus, Osteoporosis, F... |
OMIM:249420 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dislocation |
OMIM:614438 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Delayed puberty |
OMIM:232200 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... |
ORPHA:536471 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Precocious puberty, Flexion contracture, Osteoporosis, Small hand... |
ORPHA:398069 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... |
ORPHA:2636 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... |
OMIM:218330 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce... |
ORPHA:79277 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
Macs Syndrome |
|
Joint laxity, Hypergonadotropic hypogonadism, Osteoporosis, Joint hypermobility, Brachydactyly |
OMIM:613075 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin... |
ORPHA:391487 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Osteoporosis, Delayed puberty, Bi... |
OMIM:619718 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Flexion contracture, Reduced bone mineral density, Type I diabetes mellitus, Abn... |
ORPHA:1979 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Decreased skull... |
OMIM:602361 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Neut... |
OMIM:271510 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Generalized bone demineralization, Decreased circulating IgA level |
OMIM:215250 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... |
ORPHA:1900 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... |
ORPHA:77293 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycerolemia, Osteoporosis, Adrenal insuffi... |
OMIM:307030 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating cholesterol concentration, Osteoporosis |
OMIM:213700 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Large hands, Finger joint hypermobility |
ORPHA:363705 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Hy... |
ORPHA:2671 |
Farber Disease |
|
Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Sh... |
ORPHA:333 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o... |
OMIM:210730 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:2326 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Polyclonal e... |
ORPHA:171 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... |
OMIM:620083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Thyroiditis,... |
ORPHA:79259 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Recurr... |
ORPHA:955 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... |
ORPHA:79474 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... |
ORPHA:93315 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... |
OMIM:127550 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Elevat... |
ORPHA:99880 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ... |
ORPHA:666 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:254892 |
Parathyroid Carcinoma |
|
Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Elevat... |
ORPHA:143 |
Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Talipes equinovarus, Camptodactyly, Generalized osteoporosis |
OMIM:612313 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Osteopo... |
ORPHA:95159 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:102500 |
Richards-Rundle Syndrome |
|
Reduced bone mineral density, Hypergonadotropic hypogonadism, Joint stiffness |
ORPHA:1399 |
Dyskeratosis Congenita |
|
Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... |
ORPHA:1775 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Small hand, Short foot, Hyper... |
OMIM:615273 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum |
ORPHA:394 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Osteoporosis, Small hand, Short foot, Hypogonadism, Tali... |
OMIM:268400 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de... |
OMIM:619377 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop... |
OMIM:225400 |
Menkes Disease |
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Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Primrose Syndrome |
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Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated... |
OMIM:259050 |
Osteogenesis Imperfecta, Type Iv |
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Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
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Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
X-Linked Intellectual Disability, Snyder Type |
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Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly, Testicul... |
ORPHA:3063 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an... |
ORPHA:79408 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Flexion contracture, Osteoporosis, Elevated circulating creatine kinase concentration |
ORPHA:365 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobil... |
ORPHA:99413 |
Turner Syndrome |
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Osteopenia, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobil... |
ORPHA:881 |
Mosaic Monosomy X |
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Osteopenia, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobil... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Reduced bone mineral density, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobil... |
ORPHA:99226 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Osteopenia, Congenital hip dislocation, Arachnodactyly, Osteoporosis, Hip dislocation, Shoulder d... |
ORPHA:536545 |
Cerebrotendinous Xanthomatosis |
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Osteopenia, Abnormal tibia morphology, Osteoporosis, Abnormal femur morphology, Abnormal finger m... |
ORPHA:909 |
Martsolf Syndrome 1 |
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Joint laxity, Short metacarpal, Hypogonadotropic hypogonadism, Metatarsus adductus, Slender ulna,... |
OMIM:212720 |
Singleton-Merten Syndrome 1 |
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Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dislocation, Osteo... |
OMIM:182250 |
Wolf-Hirschhorn Syndrome |
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Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Short thumb, Preaxial hand polydactyly, Sp... |
ORPHA:280 |
Cockayne Syndrome B |
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Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... |
OMIM:133540 |
Hardikar Syndrome |
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Decreased serum insulin-like growth factor 1, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosp... |
OMIM:301068 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... |
ORPHA:667 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Abnormal fingertip morphology, Osteoporosis, Abnormal blood ion concentration, Mitten deformity, ... |
ORPHA:79404 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... |
ORPHA:3472 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Decreased serum iron, Abnormality of the endocrine system, Precocious p... |
ORPHA:438213 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Bowing of the legs, Precocious puberty, Osteoporosis, Osteolysis, Glomus jugular tumo... |
ORPHA:97685 |
Marfan Syndrome |
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Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Os... |
ORPHA:558 |
Dpagt1-Cdg |
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Arachnodactyly, Flexion contracture, Osteoporosis, Camptodactyly, Clinodactyly, Anemia |
ORPHA:86309 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Toe syndactyly, Tapered finger, Osteoporosis, Lower-limb joint contracture, Short finger, Delayed... |
ORPHA:459070 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... |
OMIM:610168 |
Williams Syndrome |
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Osteopenia, Elevated circulating creatine kinase concentration, Clinodactyly of the 5th finger, H... |
ORPHA:904 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Wrinkly Skin Syndrome |
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Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Slender long bones w... |
ORPHA:2834 |
Aneurysm-Osteoarthritis Syndrome |
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Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... |
OMIM:305000 |
Williams-Beuren Syndrome |
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Osteopenia, Joint laxity, Hallux valgus, Diabetes mellitus, Down-sloping shoulders, Hypercalcemia... |
OMIM:194050 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Tracheomalacia, Osteoporosis |
OMIM:203700 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Type I diabetes mellitus, Thrombocytopenia |
OMIM:619525 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci... |
ORPHA:79318 |
Cystic Fibrosis |
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Osteopenia, Osteoporosis |
ORPHA:586 |
Non-Acquired Panhypopituitarism |
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Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |