| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Refractory anemia, Myelofibrosis, Bone marrow hypocellularity, Th... |
OMIM:231095 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ... |
OMIM:166600 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... |
OMIM:611490 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... |
ORPHA:210110 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Polycystic liver disease |
OMIM:109130 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S... |
ORPHA:37748 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... |
ORPHA:2485 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures |
OMIM:166260 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Pancytopenia, Incr... |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Pancytopenia, Recurrent fractu... |
OMIM:259710 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovi... |
ORPHA:77297 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Arthritis, Recurrent fractures, Abnormal leukocyte morphology, Osteoarthritis, Generalize... |
ORPHA:53 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Cor... |
OMIM:616943 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259730 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... |
OMIM:614856 |
| Diastrophic Dysplasia |
|
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... |
ORPHA:1782 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... |
OMIM:259720 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Camurati-Engelmann Disease |
|
Anemia, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone di... |
OMIM:131300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis |
ORPHA:94089 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures |
OMIM:239000 |
| Pycnodysostosis |
|
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... |
ORPHA:763 |
| Poems Syndrome |
|
Hepatomegaly, Lymphadenopathy, Sclerosis of hand bone, Sclerosis of foot bone, Polycythemia, Sple... |
ORPHA:2905 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Gaucher Disease |
|
Joint stiffness, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Increas... |
ORPHA:355 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegal... |
ORPHA:77261 |
| Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| 12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, Splenom... |
OMIM:612301 |
| Trichothiodystrophy |
|
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... |
ORPHA:33364 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Anemia, Thickened cortex of long bones |
OMIM:127000 |
| Erdheim-Chester Disease |
|
Anemia, Increased bone mineral density, Osteolysis, Retroperitoneal fibrosis, Osteomyelitis |
ORPHA:35687 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f... |
ORPHA:90652 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Shoulder flexion contracture, Increased bone mineral density, Wrist f... |
ORPHA:800 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly,... |
ORPHA:667 |
| Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Atypical Werner Syndrome |
|
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min... |
ORPHA:79474 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, E... |
ORPHA:2785 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Williams Syndrome |
|
Osteopenia, Cholelithiasis, Increased bone mineral density, Synostosis of joints, Osteoporosis, J... |
ORPHA:904 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Splenopancreatic fusion, Hepatoblastoma, Thickened cortex of long bones, Sclerosis of skull base,... |
OMIM:269150 |
