Cystic Angiomatosis Of Bone, Diffuse |
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Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
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Ectopic ossification in ligament tissue |
OMIM:601708 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
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Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Distal Osteosclerosis |
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Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Hypophosphatemic Bone Disease |
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Osteomalacia, Rickets |
OMIM:146350 |
Hypophosphatasia, Adult |
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Rickets, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Recurrent frac... |
OMIM:146300 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Osteomalacia, Hypophosphatemic rickets, Rickets |
OMIM:193100 |
Axial Osteomalacia |
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Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... |
OMIM:600785 |
Hypercholanemia, Familial 1 |
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Rickets |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
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Rickets |
OMIM:619232 |
Disorder Of Bile Acid Synthesis |
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Rickets |
ORPHA:79168 |
Renal Tubular Acidosis Iii |
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Osteomalacia, Rickets |
OMIM:267200 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Abnormal bone ossification, Thin bony cortex, Delayed epiphy... |
ORPHA:79106 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Rickets |
OMIM:613388 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Autosomal Dominant Hypophosphatemic Rickets |
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Iron deficiency anemia, Osteomalacia, Tooth abscess, Rickets |
ORPHA:89937 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Pathologic fracture |
OMIM:179800 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300554 |
Fanconi Renotubular Syndrome 3 |
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Rickets |
OMIM:615605 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Rickets |
OMIM:602722 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Recurrent fractures, Os... |
ORPHA:93160 |
Fanconi Renotubular Syndrome 1 |
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Osteomalacia, Rickets |
OMIM:134600 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density |
ORPHA:157215 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:241530 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Splenomegaly, Osteopenia, Rickets |
OMIM:211600 |
Dent Disease 1 |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:264700 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:277440 |
Autosomal Recessive Hypophosphatemic Rickets |
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Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Rickets |
OMIM:560000 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... |
ORPHA:289157 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Rickets, Osteoporosis, Osteopenia, Joint stiffness, Osteomalacia, Joint hyperflexibility |
ORPHA:1901 |
Infantile Systemic Hyalinosis |
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Increased susceptibility to fractures, Osteoporosis, Osteopenia, Recurrent fractures, Camptodacty... |
ORPHA:2176 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteomalacia, Osteoarthritis, Hypophosphatemic rickets |
OMIM:307800 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Splenomegaly, Rickets |
OMIM:607765 |
Wilson Disease |
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Osteoarthritis, Osteoporosis, Joint hypermobility, Osteomalacia, Hemolytic anemia |
OMIM:277900 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... |
ORPHA:249 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Iron deficiency anemia, Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Fanconi-Bickel Syndrome |
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Osteomalacia |
OMIM:227810 |
Cystinosis |
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Rickets |
ORPHA:213 |
X-Linked Hypophosphatemia |
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Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Dent Disease |
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Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
ORPHA:1652 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Extramedullary hematopoiesis, Rickets |
ORPHA:79303 |
Hypophosphatemic Rickets |
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Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... |
ORPHA:437 |
Mccune-Albright Syndrome |
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Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst, Monostotic f... |
ORPHA:562 |
Fanconi-Bickel Syndrome |
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Osteopenia, Rickets |
ORPHA:2088 |
Neu-Laxova Syndrome |
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Rickets, Osteoporosis, Arthrogryposis multiplex congenita, Osteopenia, Flexion contracture, Osteo... |
ORPHA:2671 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Macrocytic anemia, Rickets, Iron deficiency anemia, Osteoporosis |
OMIM:212750 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia |
OMIM:600740 |
Rothmund-Thomson Syndrome |
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Abnormal trabecular bone morphology, Osteopenia, Reduced bone mineral density |
ORPHA:2909 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Distal Renal Tubular Acidosis |
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Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Osteomalacia, Hemol... |
ORPHA:18 |
Rothmund-Thomson Syndrome Type 1 |
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Abnormal trabecular bone morphology, Osteopenia |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
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Abnormal trabecular bone morphology, Osteopenia |
ORPHA:221016 |
Occipital Horn Syndrome |
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Rickets, Osteoporosis, Osteopenia, Synostosis of joints, Osteomalacia, Joint hyperflexibility, Os... |
ORPHA:198 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Thin bony cortex, Rickets, Anemia, Reduced bone mineral density, Osteopenia, Pancytopenia, Joint ... |
OMIM:613658 |
Infantile Nephropathic Cystinosis |
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Rickets |
ORPHA:411629 |
Primary Fanconi Renotubular Syndrome |
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Increased susceptibility to fractures, Osteomalacia, Hypophosphatemic rickets |
ORPHA:3337 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia |
ORPHA:405 |
Lowe Oculocerebrorenal Syndrome |
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Rickets, Joint contracture of the hand, Pathologic fracture, Joint hypermobility, Camptodactyly o... |
OMIM:309000 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae |
ORPHA:2636 |
Cystinosis, Nephropathic |
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Splenomegaly, Hypophosphatemic rickets, Rickets |
OMIM:219800 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Arthritis, Splenomegaly, Osteom... |
OMIM:619381 |
Oculocerebrorenal Syndrome Of Lowe |
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Anemia, Arthritis, Recurrent fractures, Joint stiffness, Thrombocytopenia, Osteomalacia, Joint hy... |
ORPHA:534 |
Generalized Arterial Calcification Of Infancy |
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Abnormal calcification of the carpal bones, Osteomalacia, Hypophosphatemic rickets, Fused cervica... |
ORPHA:51608 |