Superior Transverse Scapular Ligament, Calcification Of, Familial |
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Ectopic ossification in ligament tissue |
OMIM:601708 |
Osteopenia And Sparse Hair |
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Osteopenia, Joint laxity |
OMIM:259690 |
12q14 microdeletion syndrome |
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Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
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Increased bone mineral density |
OMIM:250500 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
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Osteopenia, Osteoporosis |
OMIM:615269 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Osteoporosis |
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Osteoporosis |
OMIM:166710 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Osteoporosis, Juvenile |
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Osteoporosis |
OMIM:259750 |
Hypophosphatemic Bone Disease |
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Rickets, Osteomalacia |
OMIM:146350 |
Hip Dysplasia, Beukes Type |
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Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Florid Cemento-Osseous Dysplasia |
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Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Tyrosinemia Type 1 |
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Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Hypercholanemia, Familial 1 |
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Rickets |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
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Rickets |
OMIM:619232 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
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Osteopenia, Osteoporosis |
OMIM:615270 |
Renal Tubular Acidosis Iii |
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Rickets, Osteomalacia |
OMIM:267200 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Autosomal Dominant Hypophosphatemic Rickets |
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Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Rickets |
OMIM:602722 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Fanconi Renotubular Syndrome 3 |
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Rickets |
OMIM:615605 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Dent Disease 1 |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Rickets |
OMIM:560000 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Osteomalacia |
OMIM:134600 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Infantile Systemic Hyalinosis |
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Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Rothmund-Thomson Syndrome |
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Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Increased susceptibility to fra... |
ORPHA:2909 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Splenomegaly, Rickets |
OMIM:607765 |
Dent Disease |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen... |
ORPHA:221008 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Cystinosis |
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Rickets |
ORPHA:213 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Celiac Disease, Susceptibility To, 1 |
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Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu... |
OMIM:212750 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Mccune-Albright Syndrome |
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Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibr... |
ORPHA:562 |
Fanconi-Bickel Syndrome |
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Osteopenia, Rickets |
ORPHA:2088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia |
OMIM:600740 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Distal Renal Tubular Acidosis |
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Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... |
ORPHA:18 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Decreased circu... |
OMIM:619381 |
Occipital Horn Syndrome |
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Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Wilson Disease |
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Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane... |
OMIM:277900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ... |
OMIM:613658 |
Infantile Nephropathic Cystinosis |
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Rickets |
ORPHA:411629 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility, Arthritis, Th... |
ORPHA:534 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Splenomegaly, Rickets |
OMIM:219800 |
Generalized Arterial Calcification Of Infancy |
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Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |