Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density, Tall stature |
OMIM:618406 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Tal... |
ORPHA:3152 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... |
ORPHA:2485 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... |
OMIM:136300 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... |
OMIM:166600 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hyperostosis Frontalis Interna |
|
Hyperostosis frontalis interna, Obesity |
OMIM:144800 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... |
ORPHA:2114 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia |
OMIM:166260 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Pathologic ... |
OMIM:259700 |
Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... |
ORPHA:79106 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Majeed Syndrome |
|
Leukocytosis, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive, Weight loss,... |
ORPHA:77297 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... |
OMIM:611490 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Osteopetrosis, Autosomal Recessive 2 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... |
OMIM:259710 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... |
OMIM:600785 |
Dysosteosclerosis |
|
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Pseudopseudohypoparathyroidism |
|
Obesity, Ectopic ossification |
ORPHA:79445 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... |
ORPHA:53 |
Macrosomia Adiposa Congenita |
|
Obesity, Eosinophilia, Large for gestational age |
OMIM:248100 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Osteoporosis |
OMIM:610628 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Tricho-Dento-Osseous Syndrome |
|
Periapical tooth abscess, Increased bone mineral density |
ORPHA:3352 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Failure to thrive, Abnormal epiphyseal ossification, Knee osteoarthritis, Pre... |
ORPHA:93284 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Pathologic fracture, Osteopenia, Splenomegaly, Hypersplenism, Increased bone ... |
ORPHA:77259 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Abdominal obesity, Increased body weight |
OMIM:615954 |
Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Slender build, Anemia, Diaphyseal sclerosis, Increase... |
OMIM:131300 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density |
OMIM:239000 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Wide anterior fontanel, Increased bone mineral density, Delayed patel... |
ORPHA:163649 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:600081 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... |
ORPHA:2780 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
Pseudopseudohypoparathyroidism |
|
Obesity, Osteoporosis |
OMIM:612463 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Pathologic fra... |
OMIM:112250 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteoporosis, Increased body weight, Osteopenia |
OMIM:615830 |
Summitt Syndrome |
|
Obesity, Craniosynostosis, Camptodactyly of finger, Tall stature |
ORPHA:3210 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Hip contracture, Advanced ossification of carpal bones, Truncal obesity |
OMIM:618363 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pa... |
OMIM:259720 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Pycnodysostosis |
|
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... |
ORPHA:763 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:241530 |
Halothane Hepatitis |
|
Obesity, Eosinophilia |
OMIM:234350 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300554 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Anemia, Increased bone mineral density, Small for gestational age |
OMIM:127000 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... |
OMIM:224300 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity |
ORPHA:77296 |
Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Osteoporosis, Camptodactyly of finger, Obesity, Recurrent fractures |
ORPHA:3409 |
Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Weight loss, Sclerosis of hand bone, Sclero... |
ORPHA:2905 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
Desmosterolosis |
|
Failure to thrive, Osteopetrosis, Increased bone mineral density, Splenomegaly |
ORPHA:35107 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:264700 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis |
OMIM:618476 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Recurrent fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:2235 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Rickets |
OMIM:616026 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... |
OMIM:277440 |
Gaucher Disease Type 3 |
|
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral density, Panc... |
ORPHA:77261 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Anemia, Splenomegaly |
OMIM:612301 |
Werner Syndrome |
|
Slender build, Osteoporosis, Increased bone mineral density, Joint stiffness |
ORPHA:902 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Osteoporosis |
OMIM:615300 |
Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteoporosis, Truncal obesity, Osteopenia |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Truncal obesity, Osteopenia |
OMIM:610489 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Rickets, Failure to thrive, Increased susceptibility to fractures, Delayed epip... |
ORPHA:289157 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Failure to thrive, Abnormal vertebral segmentation and fusion, Synostosis of c... |
ORPHA:90652 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Anemia, Increased body weight |
OMIM:614450 |
Erdheim-Chester Disease |
|
Weight loss, Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis |
ORPHA:35687 |
Dent Disease 1 |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300009 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossification, Large for gest... |
ORPHA:226313 |
Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... |
OMIM:602398 |
Gaucher Disease |
|
Pancytopenia, Anemia, Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Os... |
ORPHA:355 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... |
ORPHA:2658 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Pseudohypoparathyroidism Type 1C |
|
Obesity, Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic scapulae, Cortically dense ... |
OMIM:269500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Trichothiodystrophy |
|
Neutropenia, Craniosynostosis, Anemia, Osteopenia, Increased bone mineral density, Increased mean... |
ORPHA:33364 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Overweight |
ORPHA:457240 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Reduced bone mineral density, Hyperostosis frontalis interna, Increased bon... |
ORPHA:79443 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity, Osteoporosis |
OMIM:612462 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density |
OMIM:259775 |
Schwartz-Jampel Syndrome |
|
Cachexia, Shoulder flexion contracture, Flexion contracture of toe, Hip contracture, Osteoporosis... |
ORPHA:800 |
Momo Syndrome |
|
Overgrowth, Tall stature, Large for gestational age, Abnormal bone ossification, Obesity |
ORPHA:2563 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Hypophosphatemic rickets, Large for gestational age |
ORPHA:263455 |
Rothmund-Thomson Syndrome |
|
Neutropenia, Small for gestational age, Leukemia, Increased susceptibility to fractures, Anemia, ... |
ORPHA:2909 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Wilson Disease |
|
Failure to thrive, Weight loss, Anemia, Arthritis, Pathologic fracture, Splenomegaly, Thrombocyto... |
ORPHA:905 |
Carpenter Syndrome |
|
Obesity, Craniosynostosis, Polysplenia |
ORPHA:65759 |
Aromatase Deficiency |
|
Tall stature, Osteoporosis, Delayed epiphyseal ossification, Eunuchoid habitus, Osteopenia, Obesity |
ORPHA:91 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Joint hypermobility, Obesity, Craniosynostosis |
OMIM:619056 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Osteoporosis |
OMIM:103580 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Splenomegaly |
OMIM:605309 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Luscan-Lumish Syndrome |
|
Obesity, Overgrowth, Advanced ossification of carpal bones |
OMIM:616831 |
Primary Hyperoxaluria |
|
Failure to thrive, Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Rothmund-Thomson Syndrome Type 2 |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Pathologic fracture, Abnormal trabecula... |
ORPHA:221016 |
Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Osteoporosis, Abdominal obesity |
OMIM:219090 |
Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Finger symphalangism, Abnormal trabecul... |
ORPHA:221008 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Osteoporosis, Abdominal obesity, Increased body weight |
ORPHA:189427 |
Cleidocranial Dysplasia |
|
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... |
OMIM:119600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Osteoporosis, Increased body weight, Anemia, Splenomegaly, Abnormal erythrocyt... |
ORPHA:264580 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Failure to thrive, Osteopetrosis, Anemia, Pancytopenia, Thrombocytopenia, Recurrent f... |
ORPHA:2785 |
Dent Disease |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
ORPHA:1652 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Anemia, Increased body weight, Splenomegaly |
ORPHA:79240 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Osteoporosis, Abdominal obesity, Increased body weight |
ORPHA:189439 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia |
OMIM:614520 |
Atypical Werner Syndrome |
|
Failure to thrive, Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Decreased ... |
ORPHA:79474 |
Faciocardiomelic Syndrome |
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Thin bony cortex, Large for gestational age, Osteopenia |
OMIM:612731 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Autosomal Recessive Malignant Osteopetrosis |
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Osteopetrosis, Craniosynostosis, Anemia, Splenomegaly, Reduced bone mineral density, Recurrent fr... |
ORPHA:667 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Obesity, Recurrent fractures, Craniosynostosis, Episodic hemolytic anemia |
ORPHA:251004 |
Magel2-Related Prader-Willi-Like Syndrome |
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Failure to thrive, Osteoporosis, Osteopenia, Abdominal obesity, Flexion contracture, Increased bo... |
ORPHA:398069 |
Kallmann Syndrome |
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Obesity, Recurrent fractures, Reduced bone mineral density |
ORPHA:478 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Obesity, Osteopenia |
OMIM:619269 |
3Q29 Microduplication Syndrome |
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Obesity, Craniosynostosis, Camptodactyly of toe |
ORPHA:251038 |
Smith-Magenis Syndrome |
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Increased body weight |
OMIM:182290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Schinzel-Giedion Midface Retraction Syndrome |
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Splenopancreatic fusion, Failure to thrive, Thickened cortex of long bones, Sclerosis of skull ba... |
OMIM:269150 |
Williams Syndrome |
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Failure to thrive in infancy, Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Incre... |
ORPHA:904 |
Blue Diaper Syndrome |
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Increased body weight |
ORPHA:94086 |
Cushing Disease |
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Leukocytosis, Osteoporosis, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased eosinophil... |
ORPHA:96253 |
Insulinoma |
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Increased body weight |
ORPHA:97279 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Leukopenia, Weight loss, Thrombocytopenia, Decreased body weight, Ost... |
ORPHA:2298 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Obesity, Elevated hemoglobin A1c |
OMIM:618620 |
Hellp Syndrome |
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Microangiopathic hemolytic anemia, Increased body weight, Thrombocytopenia, Hemolytic anemia, Dec... |
ORPHA:244242 |
Adrenocortical Carcinoma |
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Weight loss, Increased body weight |
ORPHA:1501 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Weight loss, Osteoporosis, Truncal obesity, Abdominal obesity, Lymphopenia, Decreas... |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |