Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Failure to thrive, Increased bone mineral density |
OMIM:615198 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Flynn-Aird Syndrome |
|
Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Osteopo... |
OMIM:136300 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Increased bone mineral density |
OMIM:190320 |
Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... |
OMIM:620366 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
Melorheostosis |
|
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... |
ORPHA:2485 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu... |
OMIM:617872 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hem... |
OMIM:616943 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... |
OMIM:611490 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... |
OMIM:613845 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, ... |
OMIM:259700 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega... |
ORPHA:77297 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized... |
ORPHA:53 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... |
OMIM:259710 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia |
OMIM:615085 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Long eyelashes, Joint hypermobility, Decreased body weight, Gener... |
OMIM:614856 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Hyperuricemia, ... |
OMIM:239000 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemi... |
ORPHA:251004 |
Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... |
OMIM:618963 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancy... |
OMIM:259720 |
Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... |
ORPHA:93284 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess, Abnormal hair quantity |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... |
ORPHA:36913 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Curly hair |
ORPHA:85184 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Joi... |
OMIM:223360 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... |
ORPHA:1782 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Slender build, Joint stiffness, White forelock, P... |
ORPHA:902 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... |
OMIM:127000 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr... |
OMIM:112250 |
Poems Syndrome |
|
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Hypertrichosis, Sclerosis of skull ... |
ORPHA:2905 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism |
OMIM:154230 |
Camurati-Engelmann Disease |
|
Slender build, Sclerosis of skull base, Anemia, Cortical thickening of long bone diaphyses, Incre... |
OMIM:131300 |
Pycnodysostosis |
|
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... |
ORPHA:763 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Osteopetrosis, Splenomegaly |
OMIM:618541 |
Cockayne Syndrome Type 1 |
|
Anemia, Foot joint contracture, Increased blood urea nitrogen, Failure to thrive |
ORPHA:90321 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:49041 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Abnormality of the spleen, Thick eyebrow, Osteopoikilosis, Synophrys |
ORPHA:94063 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Trichothiodystrophy |
|
Osteopenia, Increased mean corpuscular hemoglobin concentration, Tiger tail banding, Alopecia of ... |
ORPHA:33364 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, Hypocalcemia, Osteopet... |
OMIM:618476 |
Gaucher Disease |
|
Splenic infarction, Osteopenia, Increased circulating ferritin concentration, Osteolysis, Osteomy... |
ORPHA:355 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Failure to thrive, Splenomegaly |
ORPHA:35107 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... |
OMIM:259730 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
Erdheim-Chester Disease |
|
Osteomyelitis, Xanthelasma, Weight loss, Anemia, Increased bone mineral density, Osteolysis |
ORPHA:35687 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Abnormal eyebrow morphology, Joint stiffness, Long eyelashes in irr... |
ORPHA:800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Alopecia, Limitation of joint mobility, Failure to thrive, Sclerosis of hand... |
ORPHA:79474 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... |
ORPHA:232 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglo... |
ORPHA:231222 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Desmosterolosis |
|
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Failure to thrive,... |
OMIM:602398 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... |
ORPHA:447 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, ... |
ORPHA:79444 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Tooth absces... |
ORPHA:89936 |
Gaucher Disease Type 3 |
|
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr... |
ORPHA:77261 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, ... |
ORPHA:79443 |
Raine Syndrome |
|
Highly arched eyebrow, Hypophosphatemia, Subperiosteal bone formation, Increased bone mineral den... |
OMIM:259775 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Increa... |
ORPHA:90652 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
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 |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia, Hypocal... |
OMIM:612301 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Splenomegaly, Hypophosphatemia, Osteopetrosis, Anemia, Craniosynostosis, Abnormalit... |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c... |
ORPHA:2785 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
Primary Hyperoxaluria |
|
Recurrent fractures, Hyperoxaluria, Failure to thrive, Generalized osteosclerosis |
ORPHA:416 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
Williams Syndrome |
|
Synostosis of joints, Osteopenia, Abnormal circulating lipid concentration, Failure to thrive in ... |
ORPHA:904 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Failure to thrive, Hypertrichosis, Sclerosis of skull base, Thic... |
OMIM:269150 |
Goodpasture Syndrome |
|
Anemia, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |