| 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 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Abnormal epiphysis morphology, Delayed skeletal maturation, Abnormal metaphysis morpho... |
ORPHA:2501 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... |
ORPHA:53697 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Failure to thrive, Increased bone mineral density |
OMIM:615198 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Bowing of the legs, Metaph... |
OMIM:617974 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Parastremmatic Dwarfism |
|
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis |
OMIM:168400 |
| Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal sclerosis, Genu valgum, Osteochondritis dissecans, Bowing of the legs, Metaphyseal ch... |
OMIM:250400 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Kyphosis, Abnormal epiphysis morphology, Abnormality of the epiphysis of the ... |
ORPHA:2114 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
| Melorheostosis |
|
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... |
ORPHA:2485 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Congenital hip dislocation, Limited hip movement, Leukocytosis, Multicentric femoral head ossific... |
ORPHA:168621 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... |
OMIM:620639 |
| Pyle Disease |
|
Platyspondyly, Genu valgum, Limited elbow extension, Cubitus valgus, Thin bony cortex, Metaphysea... |
OMIM:265900 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal form of the vertebral bodies, Abn... |
ORPHA:3344 |
| Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... |
OMIM:259450 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm... |
ORPHA:40 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Wormian bones, P... |
OMIM:619795 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Metatropic Dysplasia |
|
Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Ca... |
ORPHA:2635 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Flattened proximal radial epiphyses, Kyphosis, Short iliac bones, Squa... |
OMIM:271530 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Vertebral wedging, Bowing of the arm, Biconcave vertebral bodies, Joint h... |
OMIM:301014 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa... |
OMIM:277950 |
| Monosomy 5P |
|
Small hand, Finger syndactyly, Joint hypermobility, Abnormality of bone mineral density, Short ne... |
ORPHA:281 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint hypermobility |
OMIM:259690 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones, Bone pain |
ORPHA:57782 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra... |
OMIM:610967 |
| 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 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures |
OMIM:615066 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir... |
OMIM:132400 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... |
ORPHA:429 |
| Bruck Syndrome |
|
Platyspondyly, Kyphosis, Pterygium, Joint stiffness, Bowing of the long bones, Talipes equinovaru... |
ORPHA:2771 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Inability to walk, Osteopenia, Broad-based gait, Recurrent fractures |
OMIM:619884 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... |
ORPHA:210110 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral bodies, O... |
ORPHA:93160 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint contracture of the hand, Difficulty walking, Sclerotic vertebral endplates, Flattened epiph... |
OMIM:208230 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Kyphosis, Bowing of limbs due to multiple fractures, Decreased calvarial ossificat... |
OMIM:259440 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Ankle pain,... |
ORPHA:93308 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... |
OMIM:603546 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Bone pain, Enlar... |
OMIM:600081 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Ankle clonus, Gait disturbance, Joint contracture, Scoliosis, Kyphosis |
OMIM:611225 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification o... |
OMIM:618392 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Pterygium, Elbow flexion contracture, Femoral bowing, Increased suscep... |
OMIM:609220 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... |
OMIM:610968 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femora... |
OMIM:619638 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Recurrent fractures, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, T... |
OMIM:611490 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Thin bony cortex, Osteolysis, Bone pain |
OMIM:174810 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Slender long bone, Bowing of limbs due to multiple fractures, Tibial bowing, Decreased ... |
OMIM:259420 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bowing of the arm, Joint hypermobility, Wormian bones, Coxa vara, Osteoporosis, Sc... |
OMIM:619131 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Crumpled long bones, Abnormal lower limb bone morphology, Increased susceptibility to... |
ORPHA:2788 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... |
ORPHA:1486 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Gait disturbance, Spastic gait, Recurrent fractures, Bone pain |
ORPHA:329475 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Joint dislocation, Elbow dislocation, Micromelia, Camptodactyly of fin... |
ORPHA:628 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... |
ORPHA:166277 |
| Osteogenesis Imperfecta, Type Xii |
|
Hypermobility of interphalangeal joints, Bowing of the legs, Bowing of the arm, Bowing of the lon... |
OMIM:613849 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaph... |
ORPHA:1040 |
| Mycetoma |
|
Abnormal form of the vertebral bodies, Painless fractures due to injury, Pathologic fracture, Ost... |
ORPHA:2583 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility, Abnormal digit morphology, Hyperlordosis,... |
OMIM:300831 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Gait disturbance, Osteoporosis, Vertebral compression fracture, Kyphosis, Bo... |
ORPHA:85193 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Osteogenesis Imperfecta, Type Iv |
|
Femoral bowing present at birth, straightening with time, Kyphosis, Increased susceptibility to f... |
OMIM:166220 |
| Brachyolmia Type 1, Toledo Type |
|
Lumbar hyperlordosis, Precocious costochondral ossification, Abnormal odontoid process morphology... |
OMIM:271630 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cellulitis, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopa... |
OMIM:617718 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Bone pain, Enlar... |
OMIM:241530 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Facial paralysis, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytope... |
OMIM:259700 |
| Blount Disease, Adolescent |
|
Osteochondritis dissecans, Genu varum, Bowing of the legs |
OMIM:259200 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Abnormal epiphysis morphology, Irregular epiphyses, Joint stiff... |
ORPHA:1822 |
| Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bones, Wormia... |
OMIM:617952 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac... |
ORPHA:3409 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... |
OMIM:146300 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... |
ORPHA:90650 |
| Gorham-Stout Disease |
|
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... |
ORPHA:73 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... |
OMIM:300554 |
| Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... |
ORPHA:1525 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short thumb, Overlapping toe, Arrhythmia, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis |
OMIM:618453 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Bone pain, Sclerosis of sku... |
OMIM:602080 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver... |
OMIM:609223 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti... |
ORPHA:1310 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Optic atrophy, Mandibular osteomyelitis, Abnormal epiphysis morph... |
ORPHA:53 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el... |
ORPHA:2619 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... |
ORPHA:93284 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Short finger, Sclerosis of skull base, Knee flexion contracture, Hip contracture, ... |
OMIM:313420 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:2631 |
| Osteogenesis Imperfecta, Type Vi |
|
Bowing of the arm, Increased susceptibility to fractures, Biconcave vertebral bodies, Joint hyper... |
OMIM:613982 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine... |
ORPHA:37748 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Abno... |
ORPHA:2097 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Congestive heart failure, Broad long bones... |
OMIM:166210 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Limitation of joint mobility, Hypopl... |
OMIM:607326 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Spin... |
OMIM:307800 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Joint dislocation, Abnormal epiphysis morphology, Delayed skeletal maturation, Spi... |
ORPHA:582 |
| Pelger-Huet Anomaly |
|
Giant platelets, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metaca... |
OMIM:169400 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Osteopenia, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Recurrent ... |
OMIM:610915 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... |
OMIM:222600 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... |
OMIM:264700 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Cardiomyopathy, Congestive heart failure, Pathologic fractur... |
ORPHA:52430 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal cupping of metacarpals, Abnormal pelvic girdle bone morphology, Abnormality of the ve... |
OMIM:250460 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Platyspondyly, Osteopenia, Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal syno... |
OMIM:615349 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... |
OMIM:277440 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, ... |
OMIM:231070 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of the vertebral bod... |
ORPHA:2078 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Metaph... |
ORPHA:85198 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Kyphoscoliosis... |
OMIM:616507 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... |
OMIM:114000 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... |
ORPHA:166011 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal fem... |
ORPHA:352540 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Wide distal femoral metaphysis, Femoral bowing, Recurrent fractures, Wide pubic sy... |
OMIM:614856 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Rhizomelia, Decreased calvarial ossification, Bowing of the long bones... |
OMIM:616229 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Bowing of the legs, Femoral bo... |
OMIM:608728 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... |
OMIM:112350 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Micromelia, Limitation of joint mobility, Abnormal joi... |
ORPHA:93351 |
| Dysosteosclerosis |
|
Short diaphyses, Osteopenia, Platyspondyly, Broad femoral neck, Flared metaphysis, Sclerosis of h... |
OMIM:224300 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... |
OMIM:251450 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh... |
OMIM:255800 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Delayed cranial suture ... |
ORPHA:2484 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Difficulty walking, Premature osteoarthritis, Limited hip movement, Genu valgum, Intervertebral d... |
ORPHA:93311 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Waddling gait, Enlarged joints, ... |
ORPHA:156728 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Cranial ... |
OMIM:259710 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Pathologic fracture, Osteopenia, Gait disturbance, Bone cyst |
OMIM:618193 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
| Marshall-Smith Syndrome |
|
Slender long bone, Increased susceptibility to fractures, Joint hypermobility, Bowing of the long... |
ORPHA:561 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Tip-toe gait, Hip contracture, Knee flexion contracture, Talipes equinovarus, S... |
OMIM:615290 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... |
ORPHA:668 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Ascites, Splenomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Vac... |
OMIM:269920 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Cardiomyopathy, Osteomal... |
ORPHA:289157 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r... |
ORPHA:94068 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Atrioventricular block, Carpal osteolysis, Abnormal form of the vertebral bodies, Pte... |
ORPHA:371428 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Arterial rupture, Recurrent joint dislocation, Joint hypermobility, Scoliosis, Reduced bone miner... |
OMIM:619115 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly, Osteopenia, Epiphyseal dysplasia, Fractures of the long bones, Delayed skeletal ma... |
ORPHA:319195 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... |
ORPHA:1782 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... |
OMIM:259600 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Increased susceptibi... |
OMIM:241500 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Juvenile Paget Disease |
|
Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing of the long bones, Osteoporosi... |
ORPHA:2801 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Bone pain, Enlargement... |
OMIM:300009 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Joint hypermobility, Shor... |
ORPHA:1803 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contracture |
OMIM:616471 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint stiffness,... |
ORPHA:1801 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure |
ORPHA:46532 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... |
ORPHA:85184 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Decreas... |
ORPHA:93267 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... |
ORPHA:494444 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie... |
ORPHA:2769 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Fifth finger distal phalanx clinodactyly, Osteopenia, Epiphyseal dysplasia, Broad hallux, Long ha... |
OMIM:615923 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Hepatomegaly,... |
OMIM:259720 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Delayed skeletal maturation, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, S... |
OMIM:234250 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Biconcave flattened vertebrae,... |
OMIM:166200 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Bowing of the long bones, Pulmonary arterial hypertension, Short long b... |
OMIM:619751 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Delayed skeletal maturation, Joint hypermobility, 2-3 toe syndactyly, Recurrent fract... |
ORPHA:2324 |
| Contractural Arachnodactyly, Congenital |
|
Mitral regurgitation, Hip contracture, Arachnodactyly, Talipes equinovarus, Short neck, Bowing of... |
OMIM:121050 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Delayed skeletal maturation, Bowing of the long ... |
ORPHA:61 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Talipes equinovarus, Hyperl... |
OMIM:600175 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... |
OMIM:313900 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Inability to walk, Lumbar hyperlordosis, Talipes equinovarus, Ataxia,... |
OMIM:616756 |
| Majeed Syndrome |
|
Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hypo... |
ORPHA:77297 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density |
OMIM:616943 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Fibrous Dysplasia Of Bone |
|
Osteomalacia, Difficulty walking, Abnormal tibia morphology, Bowing of the long bones, Abnormal m... |
ORPHA:249 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased suscept... |
ORPHA:2176 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Achondrogenesis Type 1A |
|
Micromelia, Abnormal enchondral ossification, Short neck, Short foot, Recurrent fractures, Short ... |
ORPHA:93299 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Scoliosis, Enlarged epiphyses of the phalanges of the hand, Lumbar hyperlordosis, ... |
OMIM:609616 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal form of the ve... |
ORPHA:3098 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... |
OMIM:610539 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Odontochondrodysplasia |
|
Platyspondyly, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Joint hypermobility, Bowing... |
ORPHA:166272 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... |
ORPHA:75508 |
| Richieri Costa-Da Silva Syndrome |
|
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Inabili... |
ORPHA:3101 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos... |
OMIM:176920 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Polyarticular arthritis, Osteomalacia, Bon... |
ORPHA:289176 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... |
ORPHA:93320 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviati... |
OMIM:609128 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Persistent open anterior fontanelle, Massively thicken... |
ORPHA:1798 |
| Pycnodysostosis |
|
Small hand, Delayed cranial suture closure, Hypoplastic iliac wing, Short foot, Coronal craniosyn... |
ORPHA:763 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Delayed skeletal maturation |
ORPHA:2410 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Joint hypermobility, Arachnodactyly, Gait disturbance, Adducted thumb, Shou... |
ORPHA:2181 |
| Leri Pleonosteosis |
|
Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal form of ... |
ORPHA:2900 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... |
ORPHA:93307 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, M... |
OMIM:253010 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Joint dislocation, Abnormal joint morphology, Osteomalacia, Avascular necros... |
ORPHA:1901 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal... |
ORPHA:2796 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Joint hypermobility, Diaphyseal dysplasia, Metaphyseal dysp... |
OMIM:614727 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, B... |
OMIM:249710 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Polyarticular arthritis,... |
ORPHA:85435 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diam... |
OMIM:616897 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ... |
OMIM:259770 |
| Brittle Cornea Syndrome |
|
Abnormal epiphysis morphology, Increased susceptibility to fractures, Joint hypermobility, Arachn... |
ORPHA:90354 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Knee dislocation, Small epiphyses, Genu valgum, Hip contracture, Joint hypermobility, ... |
OMIM:618363 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Abnormal vertebral morphology, Subluxation of the small joints of the hand... |
ORPHA:536471 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Elbow dislocation, Genu valgum, Mitral regurgitation, Intervertebral space... |
OMIM:143095 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Talipe... |
OMIM:271640 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Sco... |
ORPHA:48431 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Kyphosis, Tracheomalacia, Femoral bowing, Recurrent fractures, ... |
ORPHA:140 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Bowing of the long bones, W... |
ORPHA:2050 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Wormian bones, Vertebral compress... |
OMIM:112240 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Pathologic fracture, Bone pain, Bowing of the legs, Hypophosphatemic rickets, Reduc... |
ORPHA:157215 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Intestinal bleeding, Pathologic fracture, Metaphyseal sclerosis, Genu valgum, Gastroi... |
OMIM:612199 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, De... |
OMIM:613848 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Wide ... |
OMIM:616294 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs |
OMIM:619073 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Gait distur... |
OMIM:230600 |
| Grange Syndrome |
|
Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased ... |
OMIM:259410 |
| Chst3-Related Skeletal Dysplasia |
|
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... |
ORPHA:263463 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplastic iliac bod... |
OMIM:601559 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Cherry red spot of the macula, Ascites, Epiphyseal stippling, Splenomegaly, Ingui... |
OMIM:256550 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Cone/cone-rod... |
OMIM:602271 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Difficulty walking, Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, S... |
ORPHA:457395 |
| Niemann-Pick Disease, Type B |
|
Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc... |
OMIM:607616 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Talipes equinovarus, Patellar subluxation, Ankle flexion contractu... |
ORPHA:536516 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ... |
OMIM:612350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Small hand, Kyphosis, Talipes equinovarus, Short foot, Scoliosis, Hip dislocation |
OMIM:300434 |
| Beemer-Ertbruggen Syndrome |
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Increased bone mineral density |
ORPHA:1237 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| X-Linked Hypophosphatemia |
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Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero... |
ORPHA:89936 |
| Bleeding Disorder, Platelet-Type, 15 |
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Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Glycoprotein Storage Disease |
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Gout, Splenomegaly |
OMIM:232900 |
| Cleidocranial Dysplasia |
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Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Hypoplastic inferior ilia, Abnormal... |
ORPHA:1452 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Platyspondyly, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ... |
OMIM:184250 |
| Dermatoosteolysis, Kirghizian Type |
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Abnormal diaphysis morphology, Abnormality of the wrist, Brachydactyly, Osteoarthritis, Tarsal sy... |
ORPHA:1657 |
| Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
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Inability to walk, Gastrointestinal hemorrhage, Recurrent fractures |
OMIM:620368 |
| Langer Mesomelic Dysplasia |
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Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
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Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Zimmermann-Laband Syndrome 3 |
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Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Clinodact... |
OMIM:618658 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus |
OMIM:200900 |
| Slc35A1-Cdg |
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Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Short finger, Akinesia, Increased susceptibility to fractures, Multiple pteryg... |
OMIM:253290 |
| Immunodeficiency 27A |
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Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... |
OMIM:209950 |
| Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Kyphosis, Recurrent fractures, Short humerus, Lateral femoral bowing, Bowing of the l... |
OMIM:239000 |
| Frank-Ter Haar Syndrome |
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Genu recurvatum, Kyphosis, Camptodactyly of finger, Joint stiffness, Abnormal metacarpal morpholo... |
ORPHA:137834 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Difficulty walking, Talipes equinovarus, Scoliosis, Kyphosis |
OMIM:617087 |
| Cleidorhizomelic Syndrome |
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Rhizomelia, Brachydactyly, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Short midd... |
ORPHA:1453 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Dilated cardiomyopathy, Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spin... |
OMIM:300718 |
| Spondyloepiphyseal Dysplasia Congenita |
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Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Limited hi... |
OMIM:183900 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
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Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Osteoporos... |
OMIM:618234 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Enlarged metaphyses, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Broad distal phalan... |
OMIM:245600 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint hypermobil... |
OMIM:618395 |
| Ullrich Congenital Muscular Dystrophy |
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Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin... |
ORPHA:75840 |
| Liberfarb Syndrome |
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Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... |
OMIM:618889 |
| Variant Abeta2M Amyloidosis |
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Arthralgia of the hip, Pathologic fracture, Reduced left ventricular ejection fraction, Wrist pai... |
ORPHA:314652 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Hand clenching, Scoliosis, Difficulty walking, Inability to walk, Talipes equinovarus, Short neck... |
OMIM:611890 |
| Thrombocytopenia 2 |
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Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Metaphyseal Chondrodysplasia, Jansen Type |
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Osteopenia, Metaphyseal cupping, Clubbing of fingers, Pathologic fracture, Knee flexion contractu... |
OMIM:156400 |
| Poems Syndrome |
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Visceromegaly, Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Ascites, Metaphyseal... |
ORPHA:2905 |
| Stüve-Wiedemann Syndrome |
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Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... |
ORPHA:3206 |
| Spondyloperipheral Dysplasia |
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Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Osteopenia, Broad-based gait, Broad thumb, Small hand, Slender finger, Broad hallux, Lumbar hyper... |
ORPHA:251028 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Bleeding Disorder, Platelet-Type, 25 |
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Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Immunodeficiency 115 With Autoinflammation |
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Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... |
OMIM:620632 |
| Hypophosphatasia |
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Bowing of the long bones, Craniosynostosis, Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:436 |
| Multiple Enchondromatosis, Maffucci Type |
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Pathologic fracture |
OMIM:614569 |
| Prenatal Bowing |
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Bowing of the long bones |
OMIM:264050 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
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Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost... |
OMIM:184095 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Kniest Dysplasia |
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Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... |
OMIM:156550 |
| Léri-Weill Dyschondrosteosis |
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Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Joubert Syndrome 18 |
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Trident pelvis, Joint hypermobility, Bowing of the long bones, Talipes equinovarus, Postaxial pol... |
OMIM:614815 |
| Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Osteoporosis, Osteolysis |
ORPHA:100024 |
| Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Abnorm... |
OMIM:312150 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, T... |
ORPHA:536467 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Congenital bilateral hip dislocation, Talipes equinovarus, Kyphosis |
ORPHA:85288 |
| Cdkl5-Deficiency Disorder |
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Broad proximal phalanges of the hand, Difficulty walking, Hallux valgus, Gait disturbance, Scolio... |
ORPHA:505652 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
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Delayed skeletal maturation, Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis |
ORPHA:1548 |
| Bcard Syndrome |
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Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E... |
OMIM:612394 |
| Greenberg Dysplasia |
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Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Decrease... |
OMIM:215140 |
| Progressive Familial Intrahepatic Cholestasis |
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Abnormality of thrombocytes, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Red... |
ORPHA:172 |
| Juvenile Hyaline Fibromatosis |
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Joint stiffness, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology |
ORPHA:2028 |
| Osteoglophonic Dysplasia |
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