| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands |
OMIM:615198 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... |
OMIM:611497 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... |
ORPHA:566943 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica... |
ORPHA:2204 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Hip Dysplasia, Beukes Type |
|
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... |
OMIM:607634 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long bone |
ORPHA:1423 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... |
ORPHA:53697 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t... |
ORPHA:90650 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Abnormal pelvic girdle... |
OMIM:166600 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... |
OMIM:617974 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys... |
ORPHA:2501 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Hyperostosis cranialis interna, Diaphyseal dysplasia, Myelofibrosis,... |
OMIM:231095 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... |
OMIM:144750 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... |
ORPHA:75508 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Recurrent fractures,... |
ORPHA:210110 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... |
ORPHA:85184 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Flared metaphysis, Generalized osteosclerosis, Advanced ossification of carpal bones,... |
OMIM:215045 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Camptodactyly of finger, Sh... |
ORPHA:628 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology |
ORPHA:1522 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... |
ORPHA:174 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... |
ORPHA:53 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... |
ORPHA:93284 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Delayed patellar ossification, Abnormal femoral neck/h... |
ORPHA:163649 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... |
ORPHA:1782 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Increased circulating IgM level, Arthritis |
ORPHA:37748 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphy... |
OMIM:614856 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Redu... |
OMIM:620639 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density, Coxa valga |
OMIM:616943 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o... |
OMIM:259700 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Finger clinodactyly |
ORPHA:3352 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar... |
OMIM:600081 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... |
ORPHA:2741 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... |
ORPHA:970 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Clinodactyly of the 5th finger, Osteopetrosis |
OMIM:617306 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Reduced bone mine... |
OMIM:619489 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal... |
ORPHA:85435 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ... |
OMIM:239000 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea... |
OMIM:259710 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
| X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rick... |
ORPHA:89936 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... |
ORPHA:1508 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Spina ... |
ORPHA:2780 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Cranial hyperos... |
OMIM:123000 |
| Dysosteosclerosis |
|
Short diaphyses, Osteopenia, Broad femoral neck, Flared metaphysis, Sclerosis of hand bone, Scler... |
OMIM:224300 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... |
OMIM:112350 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... |
ORPHA:1798 |
| Osteogenesis Imperfecta, Type Xxii |
|
Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bony cortex, Multiple prenatal... |
OMIM:619795 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo... |
OMIM:241530 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... |
OMIM:619638 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Camurati-Engelmann Disease |
|
Bone marrow hypocellularity, Sclerosis of skull base, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
| Pycnodysostosis |
|
Aplastic clavicle, Brachydactyly, Narrow iliac wing, Increased bone mineral density, Osteolytic d... |
OMIM:265800 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures |
OMIM:126550 |
| Bruck Syndrome 2 |
|
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... |
OMIM:609220 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Wrist flexion contra... |
OMIM:609465 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... |
OMIM:619598 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... |
OMIM:264700 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... |
OMIM:277440 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... |
OMIM:612301 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... |
ORPHA:50945 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia |
OMIM:146350 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... |
OMIM:602080 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... |
OMIM:307800 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Small hand, Rhizomelia, Short finger, Hypoplastic iliac wing, Increased... |
ORPHA:763 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medullary cavi... |
OMIM:127000 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp... |
OMIM:620558 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol... |
ORPHA:90652 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... |
ORPHA:2658 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... |
OMIM:618476 |
| Osteogenesis Imperfecta, Type Xvii |
|
Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bowed humerus, Osteoporosis, ... |
OMIM:616507 |
| Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... |
OMIM:617952 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... |
OMIM:610915 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteomyelitis, Hyperostosis, Abnormal... |
ORPHA:324964 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... |
OMIM:620076 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... |
ORPHA:79444 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Flared metaphysis, Osteopetrosis, Decreased osteoclast count, Increased bon... |
OMIM:259720 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Scapulohumeral synos... |
OMIM:602471 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphyseal sclerosis, I... |
ORPHA:2905 |
| Werner Syndrome |
|
Small hand, Joint stiffness, Osteoporosis, Rocker bottom foot, Increased bone mineral density |
ORPHA:902 |
| Cleidocranial Dysplasia 1 |
|
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... |
OMIM:119600 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Osteomyelitis, Increased bone mineral density, Abnormal metaphysis... |
ORPHA:35687 |
| Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... |
ORPHA:79443 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Micromelia, Metatarsus adductus |
ORPHA:35107 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis |
ORPHA:94063 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Flared metaphysis, Broad long bones, Sclerosis of skull base, Genu valgum, Coxa valga... |
OMIM:269300 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Ectrodactyly, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Short humerus, Aplasia... |
ORPHA:2878 |
| Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Femoral bo... |
ORPHA:289157 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis, Small hand, Short foot, Short palm |
OMIM:241410 |
| Raine Syndrome |
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Micromelia, Long hallux, Bowing of the long bones, Subperiosteal bone formation, Brachydactyly, I... |
OMIM:259775 |
| Schneckenbecken Dysplasia |
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Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Dumbbell-shaped long bone... |
ORPHA:3144 |
| Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
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Abnormal pelvic girdle bone morphology, Increased skull ossification, Micromelia, Broad long bone... |
ORPHA:1422 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Short humerus, Talipes... |
OMIM:616716 |
| Schwartz-Jampel Syndrome |
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Shoulder flexion contracture, Micromelia, Abnormal epiphysis morphology, Joint stiffness, Protrus... |
ORPHA:800 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... |
OMIM:222765 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Osteogenesis Imperfecta, Type Iv |
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Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... |
OMIM:166220 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... |
OMIM:166200 |
| Desmosterolosis |
|
Joint contracture of the hand, Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinova... |
OMIM:602398 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
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Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Short foot |
ORPHA:2323 |
| Dent Disease |
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Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... |
ORPHA:1652 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis, Increased circ... |
ORPHA:77261 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o... |
OMIM:618162 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy... |
OMIM:269500 |
| Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Rothmund-Thomson Syndrome Type 2 |
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Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Pathologic fracture, Metaph... |
ORPHA:221016 |
| Trichothiodystrophy |
|
Osteopenia, Panhypogammaglobulinemia, Multiple joint contractures, Clubbing, Craniosynostosis, In... |
ORPHA:33364 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... |
OMIM:211350 |
| Rothmund-Thomson Syndrome Type 1 |
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Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... |
ORPHA:221008 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, I... |
ORPHA:2909 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... |
ORPHA:3003 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... |
OMIM:618019 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Osteopet... |
ORPHA:667 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Calvarial osteosclerosis |
OMIM:617994 |
| Gaucher Disease |
|
Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fractures, Increased c... |
ORPHA:355 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... |
OMIM:258315 |
| Sapho Syndrome |
|
Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Abnorma... |
ORPHA:793 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Short tubular bones of the hand, Fibular aplasia, Cl... |
ORPHA:56305 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Finger clinodactyly, Sclerosis of hand bone, Osteolytic defects of ... |
ORPHA:79474 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Atelosteogenesis, Type I |
|
Rhizomelia, Club-shaped proximal femur, Radial bowing, Short finger, Fibular aplasia, Tibial bowi... |
OMIM:108720 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... |
OMIM:309350 |
| Occipital Horn Syndrome |
|
Genu valgum, Limited elbow extension, Short humerus, Joint hypermobility, Short clavicles, Limite... |
OMIM:304150 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Abnormal pelvic girdle bone morphology, Joint stiffness, Genu v... |
ORPHA:904 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hip contracture, Bowing of the long bones, ... |
OMIM:210710 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Carpal synostosis,... |
OMIM:272460 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... |
OMIM:181450 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Radioulnar synostos... |
OMIM:142900 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Flexion contracture |
OMIM:619479 |
