Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
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Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
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Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Buschke-Ollendorff Syndrome |
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Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
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 |
Ribbing Disease |
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Diaphyseal sclerosis |
OMIM:601477 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteosclerotic Metaphyseal Dysplasia |
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Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Trichodentoosseous Syndrome |
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Abnormal hair morphology, Increased bone mineral density |
OMIM:190320 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Flynn-Aird Syndrome |
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Alopecia, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
Isolated Osteopoikilosis |
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Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis |
OMIM:611490 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 9 |
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Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Schnitzler Syndrome |
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Splenomegaly, Arthritis, Increased bone mineral density, Hepatomegaly |
ORPHA:37748 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Oste... |
OMIM:259700 |
Dysosteosclerosis |
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Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
Osteopetrosis, Autosomal Recessive 8 |
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Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:615085 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Osteogenesis Imperfecta, Type Xiii |
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Increased bone mineral density, Recurrent fractures, Osteoporosis, Generalized hirsutism, Reduced... |
OMIM:614856 |
Osteopetrosis, Autosomal Recessive 2 |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrop... |
OMIM:252920 |
Gaucher Disease Type 1 |
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Osteopenia, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Abnormal myocardi... |
ORPHA:77259 |
Tricho-Dento-Osseous Syndrome |
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Abnormal hair quantity, Increased bone mineral density |
ORPHA:3352 |
Albers-Schönberg Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Diastrophic Dysplasia |
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Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Majeed Syndrome |
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Hepatomegaly, Increased bone mineral density, Osteomyelitis, Splenomegaly, Flexion contracture, S... |
ORPHA:77297 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Osteopetrosis |
OMIM:618541 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Leukocyte Adhesion Deficiency, Type Iii |
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Splenomegaly, Hepatomegaly, Osteopetrosis, Hepatosplenomegaly |
OMIM:612840 |
Spondyloepiphyseal Dysplasia Tarda |
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Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density |
ORPHA:1237 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
Gaucher Disease Type 3 |
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Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... |
ORPHA:77261 |
Werner Syndrome |
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Sparse scalp hair, Increased bone mineral density, Joint stiffness, Abnormal hair whorl, Osteopor... |
ORPHA:902 |
Poems Syndrome |
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Sclerosis of hand bone, Sclerosis of foot bone, Pericardial effusion, Leukonychia, Sclerosis of s... |
ORPHA:2905 |
Pycnodysostosis |
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Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly |
OMIM:259730 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... |
OMIM:259720 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Camurati-Engelmann Disease |
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Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
Desmosterolosis |
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Splenomegaly, Increased bone mineral density, Osteopetrosis, Anomalous pulmonary venous return |
ORPHA:35107 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Gaucher Disease |
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Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Mitral valve calcificati... |
ORPHA:355 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ... |
OMIM:618476 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Multiple joint contr... |
ORPHA:33364 |
Dysostosis, Stanescu Type |
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Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of finger, Tarsal ... |
ORPHA:90652 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Abnormal pericardium morphology, Osteolysis, Abnor... |
ORPHA:35687 |
12Q14 Microdeletion Syndrome |
|
Synophrys, Osteopoikilosis, Thick eyebrow |
ORPHA:94063 |
Schwartz-Jampel Syndrome |
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Abnormal eyebrow morphology, Hip contracture, Increased bone mineral density, Abnormally ossified... |
ORPHA:800 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Atypical Werner Syndrome |
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Abnormal hair quantity, Sclerosis of hand bone, Alopecia, Increased bone mineral density, Abnorma... |
ORPHA:79474 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Highly arched eyebrow, Subper... |
OMIM:259775 |
Desmosterolosis |
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Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita, To... |
OMIM:602398 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 7 |
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Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly |
OMIM:612301 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Abnormal pulmon... |
ORPHA:667 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures, Cardiomyopathy |
ORPHA:416 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal endocardium morphology, Bicusp... |
ORPHA:904 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Sclerosis of skull base, Hypoplastic nipples, Atrial septal defe... |
OMIM:269150 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures, Hepatomegaly |
ORPHA:2785 |