Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Buschke-Ollendorff Syndrome |
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Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
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 |
Flynn-Aird Syndrome |
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Alopecia, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Isolated Osteopoikilosis |
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Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Trichodentoosseous Syndrome |
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Abnormal hair morphology, Increased bone mineral density |
OMIM:190320 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density, Obesity |
OMIM:618406 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Schnitzler Syndrome |
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Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Majeed Syndrome |
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Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
Albers-Schönberg Osteopetrosis |
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Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Osteopetrosis, Autosomal Recessive 8 |
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Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Osteogenesis Imperfecta, Type Xiii |
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Increased bone mineral density, Recurrent fractures, Osteoporosis, Generalized hirsutism, Reduced... |
OMIM:614856 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity, Increased blood urea nitrogen, Epi... |
ORPHA:251004 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Gaucher Disease Type 1 |
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Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Osteopetrosis, Autosomal Recessive 5 |
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Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Tricho-Dento-Osseous Syndrome |
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Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Diastrophic Dysplasia |
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Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Spondyloepiphyseal Dysplasia Tarda |
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Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
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 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Werner Syndrome |
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Sparse scalp hair, Increased bone mineral density, Joint stiffness, Abnormal hair whorl, Osteopor... |
ORPHA:902 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... |
ORPHA:94089 |
Poems Syndrome |
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Sclerosis of hand bone, Sclerosis of foot bone, Leukonychia, Weight loss, Sclerosis of skull base... |
ORPHA:2905 |
46,Xy Sex Reversal 4 |
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Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Camurati-Engelmann Disease |
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Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Splenomegaly, Hypopigmentation of hair, Osteopetrosis |
OMIM:618541 |
Cockayne Syndrome Type 1 |
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Failure to thrive, Foot joint contracture, Anemia, Increased blood urea nitrogen |
ORPHA:90321 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis, Synophrys, Failure to thrive, Thick eyebrow |
ORPHA:94063 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Multiple joint contractures, Britt... |
ORPHA:33364 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ... |
OMIM:618476 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... |
ORPHA:3240 |
Desmosterolosis |
|
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Increased circulating free fatty acid level |
ORPHA:293964 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Abnormal eyebrow ... |
ORPHA:800 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal hair quantity, Increased bone mineral density, Hypertriglyceride... |
ORPHA:79474 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma, Anemia |
ORPHA:35687 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... |
ORPHA:79444 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... |
ORPHA:355 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... |
ORPHA:79443 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... |
ORPHA:89936 |
Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... |
OMIM:602398 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the ... |
ORPHA:2457 |
Raine Syndrome |
|
Increased bone mineral density, Highly arched eyebrow, Subperiosteal bone formation, Hypophosphat... |
OMIM:259775 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... |
ORPHA:90652 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, Reduced bone mi... |
ORPHA:667 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia |
OMIM:612301 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... |
OMIM:610768 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... |
ORPHA:2785 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Hyperoxaluria, Recurrent fractures |
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 circulating lipid concentratio... |
ORPHA:904 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Hypoplastic ni... |
OMIM:269150 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Goodpasture Syndrome |
|
Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |