Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
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 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
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 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Dementia, Osteoporosis, Increased bone mineral densit... |
OMIM:136300 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
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 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... |
OMIM:259710 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly |
OMIM:615085 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Pathologic fracture, Splenomeg... |
OMIM:259700 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... |
ORPHA:53 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Majeed Syndrome |
|
Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anemia, Increased ... |
ORPHA:77297 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased bone ... |
ORPHA:77259 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Diaphyseal sclerosis, Irritability, Increased bone mi... |
ORPHA:94089 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Dysosteosclerosis |
|
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Autoimmune Hypoparathyroidism |
|
Anxiety, Irritability, Increased bone mineral density |
ORPHA:36913 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Myelofibrosis, Splenomegaly, Acute myeloid leukemia, Lymphocytosis... |
ORPHA:86843 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density |
OMIM:239000 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Tricho-Dento-Osseous Syndrome |
|
Periapical tooth abscess, Increased bone mineral density |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... |
OMIM:112250 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Gaucher Disease Type 3 |
|
Dementia, Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral den... |
ORPHA:77261 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Anemia, Diaphyseal sclerosis, Increased bone mineral ... |
OMIM:131300 |
Pycnodysostosis |
|
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... |
ORPHA:763 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pa... |
OMIM:259720 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... |
OMIM:224300 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Osteopetrosis |
OMIM:618476 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Sclerosis of hand bone, Sclerosis of skull ... |
ORPHA:2905 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Desmosterolosis |
|
Osteopetrosis, Increased bone mineral density, Splenomegaly |
ORPHA:35107 |
Trichothiodystrophy |
|
Neutropenia, Craniosynostosis, Anemia, Osteopenia, Increased bone mineral density, Increased mean... |
ORPHA:33364 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Gaucher Disease |
|
Anemia, Abnormal bone structure, Arthrogryposis multiplex congenita, Splenomegaly, Osteopenia, Os... |
ORPHA:355 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Arthrogr... |
ORPHA:800 |
Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Reduced bone mineral density, Hyperostosis frontalis interna, Irritability,... |
ORPHA:79443 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... |
ORPHA:90652 |
12Q14 Microdeletion Syndrome |
|
Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Pseudohypoparathyroidism Type 1C |
|
Anxiety, Irritability, Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... |
ORPHA:2658 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Anemia, Increased bone mineral density |
OMIM:127000 |
Erdheim-Chester Disease |
|
Anemia, Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density |
OMIM:259775 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cognitive impairment, Sclerotic scapulae, Cortica... |
OMIM:269500 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Anemia, Splenomegaly |
OMIM:612301 |
Cleidocranial Dysplasia |
|
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... |
OMIM:119600 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Osteopetrosis, Anemia, Pancytopenia, Thrombocytopenia, Recurrent fractures, Elliptocy... |
ORPHA:2785 |
Atypical Werner Syndrome |
|
Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral densit... |
ORPHA:79474 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Anemia, Reduced bone mineral density, Splenomegaly, Recurrent fr... |
ORPHA:667 |
Williams Syndrome |
|
Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Increased bone mineral density, Joi... |
ORPHA:904 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones, Splenop... |
OMIM:269150 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Complement Component 8 Deficiency, Type I |
|
|
OMIM:613790 |