Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... |
ORPHA:35706 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Increased susceptibility to fractures, Reduced b... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism |
ORPHA:221008 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Failure to thrive, Abnormality of circulating enzyme level |
ORPHA:93598 |