Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia,... |
OMIM:193100 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr... |
ORPHA:89937 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul... |
OMIM:615198 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout |
OMIM:610947 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:600081 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating beta-C-terminal... |
ORPHA:157215 |
Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Osteopenia, Osteoporosis |
ORPHA:2197 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... |
ORPHA:93160 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypo... |
OMIM:134600 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... |
ORPHA:329475 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... |
OMIM:619256 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis |
OMIM:228600 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Elevated circu... |
OMIM:307800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:264700 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... |
OMIM:615923 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo... |
OMIM:174810 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hypouricemia, Rickets, Elevated circulating alkaline phosphatase c... |
OMIM:616026 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Hypophosphatemia |
ORPHA:2611 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... |
OMIM:619232 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ... |
ORPHA:289157 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... |
ORPHA:100024 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Hypercalcemia, Limitation of joint mobility |
ORPHA:2591 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis |
OMIM:241510 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Elevated circulating alkali... |
OMIM:156400 |
Hypophosphatasia |
|
Anemia, Recurrent fractures, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal... |
ORPHA:352540 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, ... |
ORPHA:2088 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to... |
OMIM:146300 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... |
OMIM:600785 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Increas... |
OMIM:241500 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Splenomegaly, Jaundice, Osteoporosis |
ORPHA:79301 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis, Elevated hepatic transaminase |
ORPHA:369 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis, Recurrent frac... |
OMIM:126550 |
Juvenile Paget Disease |
|
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... |
ORPHA:2801 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat... |
OMIM:615422 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Osteoporosis |
OMIM:601979 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... |
ORPHA:668 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Elevated total serum trypta... |
ORPHA:98848 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin... |
OMIM:606631 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lactate dehydrogenase con... |
ORPHA:232 |
Cystinosis |
|
Hypokalemia, Rickets, Portal hypertension, Hypophosphatemia |
ORPHA:213 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis |
OMIM:616033 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Elevated circulating creatine kinase concentration, Elbow flexion co... |
OMIM:616809 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... |
ORPHA:249 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Osteomyelitis, Increased circulating lactate dehydr... |
OMIM:259700 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis |
ORPHA:529665 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:614880 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... |
OMIM:619795 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... |
OMIM:259450 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... |
OMIM:619489 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Perrault Syndrome 1 |
|
Osteoporosis |
OMIM:233400 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Osteoporosis |
ORPHA:319195 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia |
OMIM:125700 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Splenomegaly, Increased circulating ferritin concentration, Osteop... |
OMIM:235200 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... |
OMIM:245480 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Niemann-Pick Disease, Type A |
|
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Microcytic... |
OMIM:257200 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration |
OMIM:613312 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating alanine aminotransferas... |
OMIM:615381 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Hepatitis, Polyo... |
ORPHA:562 |
Sialidosis Type 2 |
|
Splenomegaly, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger |
ORPHA:48431 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... |
OMIM:277700 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hem... |
ORPHA:251004 |
Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:2771 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin... |
OMIM:167320 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Elevated creatine kinase after exercise, Abnormal lactate dehydrog... |
ORPHA:284426 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures |
ORPHA:2788 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis |
OMIM:613849 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... |
ORPHA:79239 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neutropenia, Propi... |
OMIM:606054 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Hall-Riggs Syndrome |
|
Osteoporosis |
OMIM:234250 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis |
OMIM:309400 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Increased circulating ferritin concentration, Elevated transferrin saturation, O... |
ORPHA:139507 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,... |
OMIM:607765 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis |
OMIM:612463 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... |
ORPHA:2583 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:618392 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Reduced bone mineral density |
OMIM:620200 |
Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Splen... |
OMIM:211600 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif... |
OMIM:135100 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... |
ORPHA:2848 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones |
ORPHA:93351 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Anemia |
ORPHA:296 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon... |
ORPHA:73 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Decr... |
ORPHA:369837 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... |
OMIM:208230 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Os... |
ORPHA:186 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ... |
ORPHA:94059 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Reduced bone mineral density |
ORPHA:2501 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Joint stiffness, Splenomegaly, Increased circulating ferritin concentration,... |
ORPHA:465508 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Abscess, Eosinophilia, Jaundice, Bone cyst, Elevated circulating a... |
ORPHA:400 |
Raine Syndrome |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Subperio... |
OMIM:259775 |
Congenital Disorder Of Glycosylation, Type Ir |
|
Osteopenia, Decreased liver function |
OMIM:614507 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, ... |
OMIM:212750 |
Immunodeficiency 12 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... |
OMIM:615468 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... |
ORPHA:785 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:214150 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci... |
OMIM:610968 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density |
ORPHA:577 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Reduced bone m... |
ORPHA:848 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... |
ORPHA:667 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Hypermethioninemia, Generalized ... |
OMIM:236200 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis |
OMIM:615830 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leu... |
OMIM:620210 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating creatine ki... |
OMIM:613327 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaund... |
OMIM:214900 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture... |
OMIM:255800 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Elbow flexion contracture, Hypocalcemia |
OMIM:618440 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Increased total bilirubin |
OMIM:174050 |
Rhyns Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:602152 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
Geroderma Osteodysplastica |
|
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification |
ORPHA:2078 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... |
OMIM:278000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Wide anterior fontanel, Sclerosis of skull base, Elevated circulating alkaline phosph... |
OMIM:269300 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility |
ORPHA:99742 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis |
OMIM:219080 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ... |
OMIM:259420 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Abnormal circu... |
ORPHA:263455 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... |
OMIM:259100 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis |
OMIM:610475 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... |
OMIM:616828 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... |
ORPHA:93284 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypou... |
OMIM:277900 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:617093 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility |
OMIM:184260 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre... |
ORPHA:93325 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Hypocalcemic ... |
OMIM:612301 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Hepatitis, Anemia, Arthritis, Agammaglobuli... |
ORPHA:47 |
Nasu-Hakola Disease |
|
Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density |
ORPHA:2770 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615424 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... |
ORPHA:99845 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia |
OMIM:232200 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... |
OMIM:620351 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Reduced bone mineral density |
ORPHA:1414 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Osteoporosis |
OMIM:616200 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, N... |
OMIM:232220 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ... |
ORPHA:1159 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... |
OMIM:613989 |
Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Osteoporosis |
OMIM:219090 |
Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... |
OMIM:618000 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Lathosterolosis |
|
Elevated hepatic transaminase, Increased mean platelet volume, Acanthocytosis, Intrahepatic chole... |
OMIM:607330 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis |
OMIM:619718 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
OMIM:616507 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophospha... |
ORPHA:469 |
19P13.3 Microduplication Syndrome |
|
Osteoporosis |
ORPHA:447980 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:222700 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase |
OMIM:618879 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Osteoporosis of vertebrae |
OMIM:156510 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... |
OMIM:251450 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Splenomegaly, Jaundice, Intrahepatic cholestasis, Elevated circula... |
OMIM:235555 |
Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, ... |
OMIM:219800 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder |
OMIM:254700 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Portal hypertension, Osteoporosis, Hepatosplenom... |
OMIM:619487 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... |
ORPHA:79443 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... |
ORPHA:171 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr... |
ORPHA:411634 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis |
OMIM:610489 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... |
OMIM:619484 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Decreased circulating antibody level, Reduced proportion of CD4+... |
ORPHA:90362 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... |
OMIM:613990 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture |
OMIM:614438 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis |
OMIM:615398 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Aromatase Deficiency |
|
Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:91 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis |
OMIM:617190 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating cholesterol concentration, Osteoporosis |
OMIM:213700 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... |
ORPHA:39812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... |
ORPHA:94068 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... |
ORPHA:263501 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Abnormal cir... |
ORPHA:95159 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell... |
OMIM:617341 |
Estrogen Resistance |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615363 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... |
OMIM:127550 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... |
OMIM:614008 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... |
ORPHA:94093 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, S... |
ORPHA:699 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91348 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto... |
ORPHA:77293 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Decreased beta-galactosidase activity, Osteoporosis, Joint stiffness |
OMIM:253010 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Elevated hepatic transaminase, Portal hypertension, Ricke... |
OMIM:613658 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Anemia, Joint hy... |
ORPHA:534 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly |
ORPHA:432 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Flexion contracture, Reduced bone mineral density, Abnormal circulating lipid co... |
ORPHA:1979 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Multiple joint contractures, Microcytic anemia, T lymp... |
ORPHA:2959 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:2326 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification |
OMIM:226980 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Knee flexion contracture, Decreased circulating total IgM, Sclerosis of skull ... |
OMIM:618162 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density |
OMIM:620232 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Distal joint laxity, Generaliz... |
ORPHA:1900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular... |
OMIM:612199 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epiphyseal stippling, Hyperphosphatemia, Neonatal epiphyseal stippling |
OMIM:101800 |
Macs Syndrome |
|
Joint laxity, Osteoporosis, Joint hypermobility |
OMIM:613075 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Wid... |
OMIM:614866 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce... |
ORPHA:79277 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Elevated circulating alkaline phos... |
OMIM:618188 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:605479 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia |
OMIM:307030 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Eiken Syndrome |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio... |
OMIM:600002 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c... |
OMIM:613095 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility |
ORPHA:363705 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures |
ORPHA:90354 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Chronic ... |
ORPHA:79259 |
X Small Rings |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:96201 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest... |
OMIM:613812 |
Cleidocranial Dysplasia |
|
Spina bifida occulta, Decreased skull ossification, Osteoporosis, Recurrent fractures |
ORPHA:1452 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Osteoporosis |
OMIM:253000 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T... |
ORPHA:797 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Ele... |
OMIM:601847 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocyto... |
ORPHA:37042 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ... |
ORPHA:36234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Reduced bone mineral density |
ORPHA:2983 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circulating creatin... |
ORPHA:2785 |
Occipital Horn Syndrome |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... |
OMIM:304150 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Adrenomyodystrophy |
|
Reduced bone mineral density |
ORPHA:977 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Osteoporosis of vertebrae |
ORPHA:95619 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level |
OMIM:619356 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... |
ORPHA:86822 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Splenomegaly, Elevated circulating alkaline phosphatase concentrat... |
OMIM:613489 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased susceptibility to fractures, Osteolysis, Hypercalcemia, Reduced bone mineral density |
ORPHA:652 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
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 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Joint hyperflexibility, Spina bifida occulta, Reduced bone mineral density |
ORPHA:1185 |
Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis |
OMIM:300998 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia |
OMIM:606893 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:394 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... |
ORPHA:365 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... |
OMIM:112240 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density |
ORPHA:243 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:398079 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypokalemia, Increased serum bile acid concent... |
OMIM:619377 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo... |
ORPHA:1775 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypop... |
OMIM:229600 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Decreased circulating antibody level, Abnormal bone ossification, ... |
ORPHA:175 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat... |
ORPHA:800 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Osteoporosis, Elevated circulating creatine kinase concentration |
ORPHA:254892 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration |
OMIM:614749 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... |
OMIM:601812 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Vipoma |
|
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice, Hypokalemia, Normochromic anemia |
ORPHA:97282 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Prolactinoma |
|
Osteopenia, Osteoporosis |
ORPHA:2965 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone minera... |
ORPHA:2909 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ... |
ORPHA:26793 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Xq12-Q13.3 Duplication Syndrome |
|
Low alkaline phosphatase, Elevated circulating creatine kinase concentration |
ORPHA:314389 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Osteoporosis |
ORPHA:488632 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones |
OMIM:239300 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:601559 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Osteolysis, Rickets, Hepatitis, Joint hyperflex... |
ORPHA:198 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic... |
OMIM:619525 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Hepatic failure |
OMIM:218330 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Osteoporosis, Tracheomalacia, Hep... |
OMIM:203700 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre... |
ORPHA:904 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Osteoporosis |
ORPHA:398069 |
Somatostatinoma |
|
Intrahepatic cholestasis, Hypercalcemia, Hypochromic microcytic anemia, Intermittent jaundice |
ORPHA:97283 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hyperalaninemia, Osteoporosis, Elevated circulating alpha-fetoprot... |
OMIM:615273 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... |
OMIM:259770 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hypercalcemia, Portal hypertension, Flexion contracture, Osteoporosis, ... |
OMIM:194050 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased serum zinc, Low alkaline phosphatase, Impaired T cell function |
OMIM:201100 |
Glass Syndrome |
|
Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
Glucagonoma |
|
Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, Intermittent jaundice, Normochromic anemia |
ORPHA:97280 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... |
ORPHA:536467 |
Ppoma |
|
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice |
ORPHA:97278 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis |
ORPHA:2232 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Elevated circulating al... |
ORPHA:67 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, ... |
ORPHA:567983 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... |
ORPHA:18 |
Caroli Disease |
|
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, In... |
ORPHA:53035 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Osteoporosis |
ORPHA:98754 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... |
OMIM:166220 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... |
OMIM:102500 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:739 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Splenomegaly, Jaundice, Osteop... |
OMIM:301068 |
Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Prol... |
ORPHA:565 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Osteoporosis |
ORPHA:98793 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Hypercalcemia |
ORPHA:653 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho... |
OMIM:620005 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Osteoporosis |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Osteoporosis |
ORPHA:177901 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... |
ORPHA:955 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an... |
ORPHA:79408 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:176270 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemia, Decreased circula... |
OMIM:607143 |
Grfoma |
|
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice |
ORPHA:97261 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... |
ORPHA:221008 |
Cystic Fibrosis |
|
Osteopenia, Osteoporosis, Elevated hepatic transaminase |
ORPHA:586 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Osteoporosis, Joint laxity |
OMIM:225400 |
Lowe Oculocerebrorenal Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:309000 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:69665 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hepatic failure, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Zollinger-Ellison Syndrome |
|
Jaundice, Hypercalcemia |
ORPHA:913 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Elevate... |
OMIM:617156 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Osteoporosis, Increased suscep... |
ORPHA:909 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Decreased circulating antibody level, Hy... |
ORPHA:2136 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis |
ORPHA:91347 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Increased circulating IgG level, Elevated circulating alkaline pho... |
ORPHA:562639 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Elevated circulating alkaline... |
ORPHA:85443 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... |
OMIM:271640 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Elevated ci... |
ORPHA:30391 |
X-Linked Intellectual Disability, Snyder Type |
|
Osteoporosis, Recurrent fractures, Camptodactyly |
ORPHA:3063 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... |
ORPHA:79474 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Flexion contracture, Osteoporosis, Camptodactyly, Anemia |
ORPHA:86309 |
Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... |
ORPHA:56 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hepatic failure, Hypoproteinemia |
ORPHA:1655 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia,... |
ORPHA:480520 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Multiple joint contractures, Low alkaline phosphatase, Elevated circulating alkalin... |
OMIM:618143 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia, Elevated c... |
ORPHA:247691 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Hypocalcemia |
ORPHA:3426 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Hypercalcemia, Craniosynostosis, Ankle flexion contracture, Bilate... |
ORPHA:821 |
Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis |
OMIM:268400 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
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 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... |
ORPHA:536471 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... |
OMIM:305000 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility |
ORPHA:558 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Osteoporosis, Abnormal blood ion concentration, Anemia |
ORPHA:79404 |
Mitochondrial Trifunctional Protein Deficiency |
|
Chronic hepatic failure, Hypocalcemia |
ORPHA:746 |
Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr... |
OMIM:137920 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Distal arthr... |
OMIM:618268 |
Cockayne Syndrome B |
|
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... |
OMIM:133540 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:96253 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture |
OMIM:210730 |
Reynolds Syndrome |
|
Calcinosis, Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline ... |
OMIM:613471 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating... |
ORPHA:340 |
Primrose Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Elevated circulat... |
OMIM:259050 |
Boudin-Mortier Syndrome |
|
Joint laxity, Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a... |
ORPHA:544482 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Anemia |
ORPHA:438213 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Wolf-Hirschhorn Syndrome |
|
Osteoporosis |
ORPHA:280 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:521219 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein... |
OMIM:619991 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... |
ORPHA:100085 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Hepatosplenomegaly, Elevated circulating alka... |
ORPHA:84081 |
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 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevat... |
OMIM:300868 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:247262 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618580 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Increased circulating IgG4 level |
ORPHA:64744 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, C... |
OMIM:619534 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Splenomegaly, Multiple suture craniosynostosis, Joint hyperflexibility,... |
ORPHA:567 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, T ... |
ORPHA:83471 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density |
ORPHA:99226 |
Gitelman Syndrome |
|
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Impaired T cell function |
OMIM:192430 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand |
OMIM:610168 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones |
ORPHA:97685 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:280000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration |
OMIM:618548 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossific... |
OMIM:300106 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:614207 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... |
OMIM:608232 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand |
OMIM:182250 |
Multiple Osteochondromas |
|
Limitation of joint mobility, Abnormal cartilage morphology, Arthritis, Limited hip movement, Lim... |
ORPHA:321 |
Generalized Arterial Calcification Of Infancy |
|
Calcification of the auricular cartilage, Elevated alkaline phosphatase of bone origin, Osteomala... |
ORPHA:51608 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Bicarbonaturia, Reduced bone mineral density |
ORPHA:47159 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concen... |
OMIM:124000 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Elevated hepatic transaminase, Multiple joint contractures, Reduced thy... |
ORPHA:79318 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:99889 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hemolytic anemia, Hyperextensibility of the finger joints, Hip contracture, Portal ... |
OMIM:619503 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Increased VLDL chole... |
OMIM:243800 |
Digeorge Syndrome |
|
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocy... |
OMIM:188400 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Hypocalcemia |
OMIM:620330 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... |
ORPHA:100086 |
Charge Syndrome |
|
Lymphopenia, Hypocalcemia |
OMIM:214800 |