| 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 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
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 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
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 |
|
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Metaphyseal Dysplasia, Spahr Type |
|
Waddling gait, Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal scl... |
OMIM:250400 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ... |
ORPHA:79106 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... |
ORPHA:168621 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... |
ORPHA:750 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Pathologic fracture, Abnormal form of the verteb... |
ORPHA:83468 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... |
OMIM:301014 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G... |
OMIM:277950 |
| Monosomy 5P |
|
Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperflexibility, Abnormali... |
ORPHA:281 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Bulging epiphyses, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, A... |
OMIM:132400 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Os... |
OMIM:177170 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Inability to walk, Broad-based gait, Recurrent fractures |
OMIM:619884 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte... |
OMIM:208230 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... |
OMIM:259440 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Inability to walk, Ankle clonus, Gait disturbance, Scoliosis, Joint contracture |
OMIM:611225 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor... |
OMIM:618392 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... |
OMIM:609220 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In... |
OMIM:610968 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci... |
OMIM:619638 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Familial Expansile Osteolysis |
|
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormality of the elbow, Limitation of joint mobility, Abnormal... |
ORPHA:1486 |
| Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Bone pain, Gait disturbance, Spastic gait |
ORPHA:329475 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
| Diastrophic Dysplasia |
|
Joint dislocation, Bowing of the long bones, Increased bone mineral density, Camptodactyly of fin... |
ORPHA:628 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone... |
ORPHA:2583 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Gait disturbance, Vertebral compression f... |
ORPHA:85193 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
| Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia |
OMIM:618453 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S... |
OMIM:613849 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... |
OMIM:616583 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... |
ORPHA:2631 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... |
OMIM:166210 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility... |
ORPHA:2097 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
| Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, H... |
OMIM:607326 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hyperlordosis, Congestive heart failure, Osteolysis, Increased susceptibility to f... |
ORPHA:52430 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Hi... |
OMIM:616507 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Del... |
ORPHA:582 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of... |
ORPHA:2078 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... |
ORPHA:289157 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Delayed closure of ... |
OMIM:224300 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing... |
OMIM:608728 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph... |
OMIM:255800 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Anisospondyly, Hip dislocation, ... |
ORPHA:2484 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Waddling gait, Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limit... |
ORPHA:156728 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Rhizomelia, Recurrent fractures, Short l... |
OMIM:616229 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance |
OMIM:618193 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v... |
ORPHA:93352 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... |
ORPHA:561 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Cranio... |
OMIM:259700 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... |
OMIM:269920 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Joint swelling, Abnormal tibial metaphysis mo... |
ORPHA:668 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Abnormality of the knee, Fractures of th... |
ORPHA:319195 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... |
ORPHA:371428 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:615290 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Arterial rupture, Reduced bone mineral density,... |
OMIM:619115 |
| Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
| Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hypertension, ... |
ORPHA:2801 |
| Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased susceptibility to... |
OMIM:241500 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Waddling gait, Abnor... |
ORPHA:94068 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Bethlem Myopathy 2 |
|
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Joint stiffness, Limitation of joint mobility, Flat acetabu... |
ORPHA:1801 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... |
ORPHA:1803 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Elbow dislocation, Kyphosis, Bifid femur, Increased susce... |
ORPHA:2769 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Platyspondyly, Abn... |
ORPHA:93267 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal matur... |
ORPHA:61 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... |
OMIM:600175 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Congestive heart failure, Short long bone, Scoliosis, Camptodactyly, Pu... |
OMIM:619751 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility |
OMIM:147060 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulna... |
OMIM:121050 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d... |
OMIM:616756 |
| Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Joint hyperflex... |
ORPHA:2324 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... |
ORPHA:166016 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Achondrogenesis Type 1A |
|
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short neck, Short foot, Short ... |
ORPHA:93299 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... |
ORPHA:2176 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
| Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
| Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... |
OMIM:176920 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... |
ORPHA:75508 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... |
ORPHA:85435 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... |
ORPHA:166272 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Erl... |
OMIM:610539 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal a... |
OMIM:609128 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Oste... |
OMIM:612199 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la... |
ORPHA:763 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small han... |
ORPHA:2796 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gai... |
ORPHA:2181 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ... |
OMIM:249710 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Kyphosis, Osteoporosis, Dysmetria, Scoliosis, Abnormality of the... |
ORPHA:48431 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... |
ORPHA:1901 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Coxa valga, Hyperlordosis, Accelerated skeletal maturation, Adva... |
OMIM:618363 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl... |
ORPHA:90354 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... |
ORPHA:536471 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypopho... |
ORPHA:157215 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Wormian bones, Decreased fibular diameter, Multiple pr... |
OMIM:616897 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Joint hyperflexibility, Kyphosis, Gait disturbance |
ORPHA:1875 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Metaphyseal dysplasia, Epiphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Diaphyse... |
OMIM:614727 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Ataxia, Hyperlordosi... |
OMIM:253010 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due... |
OMIM:259410 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Joint stiffness, Thoracolumbar kyphosis, Coxa valga, Hypoplastic vertebral bodies, Platys... |
OMIM:230600 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Increased susceptibility to fractures, Hypertension, Short palm |
ORPHA:79094 |
| Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture... |
ORPHA:263463 |
| Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Kyphoscoliosis, Short neck, Metatarsus adductus, Inability to walk, Limitation... |
ORPHA:3101 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Waddling gait, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis,... |
OMIM:252605 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Congenital contractur... |
ORPHA:536516 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... |
OMIM:616294 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... |
ORPHA:89936 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... |
ORPHA:2050 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Inability to walk, Recurrent fractures |
OMIM:620368 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia... |
OMIM:601559 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the wrist, Osteoarthritis, Osteolysis, Abnormal diaphysis morph... |
ORPHA:1657 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc... |
OMIM:112240 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... |
ORPHA:1452 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... |
OMIM:253290 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Club-shaped proximal femur, Hyperlordosis, Metaphyseal dappling, Hypoplasia of the odontoid proce... |
OMIM:184250 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Metaphyseal chondrodysplasi... |
OMIM:156400 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Talipes equinovarus, Scoliosis |
OMIM:617087 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
| Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Diaphyseal th... |
ORPHA:1453 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Scoliosis, Hype... |
OMIM:618234 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Inability to walk, Hip dysplasia, Talipes equinovarus, ... |
OMIM:611890 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Coxa vara, H... |
OMIM:313400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... |
OMIM:300718 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... |
ORPHA:75840 |
| Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Reduced left ventricular ejection fraction, Wrist pain, Pathologic ... |
ORPHA:314652 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym... |
OMIM:256550 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Broad-based gait, Lumbar hyperlordosis, Broad hallux, Short ... |
ORPHA:251028 |
| Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo... |
OMIM:259720 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ... |
OMIM:183900 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Knee disloca... |
OMIM:245600 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Recurre... |
ORPHA:3206 |
| Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Scoliosis |
ORPHA:1548 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa... |
ORPHA:666 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal fibula morpholog... |
ORPHA:3035 |
| Juvenile Hyaline Fibromatosis |
|
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... |
OMIM:604250 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... |
ORPHA:536467 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Joint stiffness, Splenomegaly, Reduced bone mineral dens... |
OMIM:620210 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, B... |
OMIM:166250 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Gait disturbance, Scoliosis, Diffi... |
ORPHA:505652 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... |
OMIM:252500 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
| Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat... |
OMIM:130070 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Slender long bones with narrow diaphyses |
ORPHA:50811 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Kyphoscoliosis, S... |
OMIM:309583 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left ven... |
OMIM:300280 |
| Hypophosphatasia, Childhood |
|
Waddling gait, Craniosynostosis, Bowing of the legs |
OMIM:241510 |
| Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of... |
ORPHA:1354 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast... |
OMIM:119600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar... |
OMIM:602557 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia |
ORPHA:2772 |
| Maffucci Syndrome |
|
Bone pain, Osteolysis, Recurrent fractures, Scoliosis |
ORPHA:163634 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Metaphyseal widening, Limitat... |
OMIM:224400 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint... |
ORPHA:15 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage... |
OMIM:619040 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebr... |
OMIM:230650 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia |
ORPHA:172 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol... |
OMIM:163200 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Joint stiffness, Pulmonary embo... |
ORPHA:394 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis |
OMIM:617404 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... |
OMIM:611762 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst, Gait disturbance |
OMIM:221770 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo... |
OMIM:614008 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... |
OMIM:607095 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Osteoporo... |
OMIM:235200 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
| Rin2 Syndrome |
|
Increased susceptibility to fractures, Scoliosis, Joint hypermobility, Brachydactyly |
ORPHA:217335 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Ulnar deviation of the hand, Femur fracture, Congenital hip dislocation, Multiple ... |
OMIM:618291 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
| Gaucher Disease, Type I |
|
Epistaxis, Bone pain, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic... |
OMIM:230800 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Delayed skeletal maturation, Genu valgum, Slender long bones with narrow diaphyses, D... |
OMIM:608154 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... |
OMIM:618484 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morp... |
ORPHA:1842 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Dilated cardiomyopathy,... |
OMIM:602390 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Epiphyseal dyspla... |
OMIM:226980 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ataxia, Camptodactyly of finger, Short hallux, Aplasia/Hypopla... |
ORPHA:2710 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs |
ORPHA:882 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Neuropathic arthropathy, Inability to walk, Limb pain, Steppage gait, Gait imbalan... |
ORPHA:36386 |
| Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Pericardial effusion, Metaphyseal ... |
ORPHA:2905 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Vasculitis, Ost... |
ORPHA:324964 |
| Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Cardiomyopathy, Difficulty walking, Arthrogrypo... |
ORPHA:171433 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Marinesco-Sjogren Syndrome |
|
Short metacarpal, Ataxia, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Limb ataxi... |
OMIM:248800 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... |
OMIM:618886 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:101075 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Kyphosis, Split hand, Unsteady gait, Scoliosis, Loss of ambulation |
OMIM:618124 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... |
OMIM:601812 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
| Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed skeletal maturation, Small hand, Shor... |
ORPHA:93324 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Scoliosis, Wormian bones, Joint... |
OMIM:612940 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Ataxia |
OMIM:620007 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... |
ORPHA:178148 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia, Joint hypermobility, Ina... |
ORPHA:357058 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped distal phalanges o... |
ORPHA:73230 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... |
OMIM:620010 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Osteoporosis,... |
OMIM:102500 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Osteoporosis, Ataxia |
ORPHA:87876 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Tibial bowing, Congenital bilateral hip d... |
ORPHA:453510 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated ca... |
OMIM:607155 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure, Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Dense c... |
OMIM:252920 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Mitral regurgitat... |
OMIM:277600 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture... |
OMIM:608654 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| Flynn-Aird Syndrome |
|
Ataxia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bone pain, Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Metaphyseal widening, C... |
OMIM:618476 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... |
OMIM:300635 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Delayed cranial suture closure, Ante... |
OMIM:249420 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Short neck, H... |
ORPHA:2616 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Waddling gait, Sudden cardiac death, Joint stiffness, Hyper... |
ORPHA:98855 |
| Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abn... |
ORPHA:800 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Typical Nemaline Myopathy |
|
Waddling gait, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Hip dis... |
ORPHA:171436 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... |
ORPHA:829 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures |
OMIM:619752 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:101078 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx of finger, Brach... |
ORPHA:1858 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis |
ORPHA:2314 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens... |
ORPHA:465508 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Coxa valga, Inability to walk, Achilles tendo... |
ORPHA:404454 |
| Sandhoff Disease |
|
Kyphosis, Ataxia, Congestive heart failure |
ORPHA:796 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Prominent metopic ridge, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Recurrent fractures |
OMIM:618107 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Wrist flexi... |
ORPHA:1826 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Ataxia, Recurrent fractures, Osteolysis, Hypertension, Gait... |
ORPHA:1764 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Joint subluxation, Aortic valve sten... |
OMIM:616298 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Radioulnar synostosis, Short palm |
ORPHA:171839 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Bone pain, Decreased skull ossification, Partial absence of toe, Short to... |
ORPHA:955 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Waddling gait, Sudden cardiac death, Joint stiffness, Short... |
ORPHA:98863 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ... |
ORPHA:77261 |
| Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Waddling gait, Sudden cardiac death, Joint stiffness, Hyper... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Waddling gait, Sudden cardiac death, Joint stiffness, Hyper... |
ORPHA:98853 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Small hand, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Inability to walk, Flexion contracture, Small hand,... |
OMIM:615547 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Bone pain, Rickets, Osteomalacia |
OMIM:193100 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Dec... |
OMIM:114300 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Limitation of joint... |
ORPHA:1545 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthrit... |
OMIM:108300 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Congestive heart failu... |
OMIM:608328 |
| Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
| Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis, Gait disturbance |
OMIM:614898 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
| Myopathy, Centronuclear, 2 |
|
Waddling gait, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis |
OMIM:255200 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ... |
ORPHA:2462 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... |
OMIM:618188 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Lymphopenia, Thrombo... |
OMIM:618624 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Ataxia, Joint stiffness, Avascular necrosis of the capital femoral epi... |
ORPHA:581 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... |
ORPHA:79301 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contra... |
OMIM:617591 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgu... |
ORPHA:2479 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Telangiectasia of the sk... |
ORPHA:2909 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint stiffne... |
ORPHA:1899 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets |
OMIM:613388 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... |
ORPHA:355 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Short metacarpal, Abnormal trabecular bone morphology, Aplasia/hyp... |
ORPHA:221016 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
| Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Distal arthrogryposi... |
OMIM:108145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Tip-to... |
OMIM:606612 |
| Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Limitation o... |
ORPHA:108 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short foot, Reduction of neutrophil motility, Cellulitis, Brachydactyly |
OMIM:266265 |
| Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplasia of the bone... |
ORPHA:562 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Kyphosis,... |
ORPHA:3219 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Osteopenia, Prolonged QRS complex, Down-sloping shoulders, Recurrent fractu... |
OMIM:611174 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Increased susceptibility to fractures |
ORPHA:216866 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive p... |
OMIM:612852 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Limitati... |
ORPHA:93476 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Jaundice, Hyperammonemia, Iron deficiency anem... |
ORPHA:1667 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
| Gm1 Gangliosidosis |
|
Ataxia, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Congestive heart failu... |
ORPHA:354 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... |
OMIM:114290 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
| Spondyloocular Syndrome |
|
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Unsteady gai... |
OMIM:605822 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy, Neutropenia, Pancre... |
ORPHA:79312 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Arterial rupture, Recurrent fractures, Joint hypermobility |
OMIM:619120 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia, Asc... |
OMIM:253250 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyp... |
OMIM:620351 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... |
OMIM:613320 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... |
OMIM:301041 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Kyphosis, Unsteady gait, Hip dislocation, Scoliosis, Difficulty walking |
ORPHA:464282 |
| Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
| Prader-Willi Syndrome |
|
Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hyperten... |
ORPHA:739 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E... |
ORPHA:584 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... |
ORPHA:85451 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
| Wilson Disease |
|
Back pain, Bone pain, Arthritis, Joint swelling, Difficulty walking, Pathologic fracture |
ORPHA:905 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Celluli... |
ORPHA:47612 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Kyphosis |
ORPHA:319199 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
| Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ... |
ORPHA:352490 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Elbow flexion contracture |
OMIM:618138 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly,... |
OMIM:612731 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... |
ORPHA:508533 |
| Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Squar... |
ORPHA:2746 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Femoral bowin... |
OMIM:617022 |
| Hurler Syndrome |
|
Aortic regurgitation, Hypoplasia of the femoral head, Coxa valga, Joint stiffness, C1-C2 subluxat... |
OMIM:607014 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... |
OMIM:618892 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, K... |
OMIM:609008 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Ataxia, Abnormal tibia morphology, Ab... |
ORPHA:909 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Ataxia, Coxa valga, Elbow dislocation, Inability to wal... |
OMIM:620083 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2429 |
| Atypical Rett Syndrome |
|
Kyphosis, Inability to walk, Small hand, Gait ataxia, Short foot, Gait disturbance, Scoliosis, Lo... |
ORPHA:3095 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Kyphoscoliosis, Coxa valga, Platyspondyly, Delayed o... |
OMIM:617425 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Joint laxity, Hepatomegaly, Ventricular septal defect, Elevat... |
OMIM:615673 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Kyphosis, Scoliosis |
OMIM:615834 |
| Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Tapered finger |
OMIM:619255 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Slender build, Joint stiffness |
ORPHA:902 |
| Desmosterolosis |
|
Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly, Anomalous pulmonar... |
ORPHA:35107 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Abnormal pericardium morphology, Retroperitoneal f... |
ORPHA:35687 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... |
ORPHA:1005 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary... |
ORPHA:667 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Inability to walk, Flexion contracture, Ankle clonus, Scoliosis |
OMIM:609541 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum,... |
ORPHA:583 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipe... |
OMIM:181405 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Craniosynostosis, Short neck, Ky... |
ORPHA:254346 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta... |
ORPHA:39041 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metat... |
ORPHA:79444 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... |
OMIM:304120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Kyphosis, Small hand, Gait ataxia, Short foot, Brachydactyly |
OMIM:300354 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Sh... |
ORPHA:85293 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, T... |
OMIM:253220 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... |
ORPHA:486 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v... |
OMIM:309000 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, ... |
OMIM:616028 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Metopic depression, Decreased calvarial ossif... |
ORPHA:313855 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Ankle clonus, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait |
OMIM:614409 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Anisospondyly, Fl... |
ORPHA:1865 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures |
OMIM:606056 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Gait disturbance, Ataxia, Scoliosis |
ORPHA:99014 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Osteopenia, Joint dislocation, Thoracic scoliosis, Arachnodactyly, Sandal gap, Pha... |
ORPHA:536532 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Anemia of inadequate production, Absent thumb, Uni... |
OMIM:614900 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... |
ORPHA:290 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Decreased body weight |
OMIM:614886 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyp... |
OMIM:619951 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Kyphoscoliosis,... |
OMIM:210730 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st m... |
ORPHA:79443 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion... |
ORPHA:88628 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Inability to walk, Unste... |
ORPHA:3063 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... |
ORPHA:95699 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp... |
ORPHA:2636 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Scoliosis, Arrhythmia, Synostosis of carpal bones |
ORPHA:3191 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ... |
OMIM:616589 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Hypocalcemic sei... |
OMIM:612301 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,... |
OMIM:614702 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Metaphyseal sclerosis, T... |
OMIM:260400 |
| Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, Congenital foo... |
OMIM:314580 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Kyphosis, Abno... |
ORPHA:261318 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures... |
OMIM:602531 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Joint stiffness, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoath... |
OMIM:617988 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... |
OMIM:619644 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology |
ORPHA:2522 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren... |
ORPHA:565 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... |
OMIM:612714 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Flexion contracture, Metaphyseal widening, Clubbing... |
OMIM:617303 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Ataxia, Rickets |
OMIM:560000 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:608836 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short toe, Brachydactyly |
ORPHA:3085 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... |
OMIM:617099 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C... |
OMIM:615630 |
| Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Arthritis, Anterior be... |
ORPHA:93 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... |
OMIM:271665 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:816 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia |
ORPHA:397596 |
| Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Recurrent fractures, Reduced ... |
OMIM:619377 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Cardiomegaly, Thin metacarpal cortices, Thin metatarsal cortices, Sle... |
ORPHA:2463 |
| Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... |
OMIM:602398 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Mccune-Albright Syndrome |
|
Pathologic fracture, Polyostotic fibrous dysplasia, Craniofacial hyperostosis |
OMIM:174800 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... |
OMIM:619652 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Small... |
OMIM:618443 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... |
ORPHA:2062 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler... |
OMIM:607944 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a... |
ORPHA:57777 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Joint stiffness, Contracture of the distal interph... |
OMIM:607015 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,... |
OMIM:601005 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Umbi... |
OMIM:252900 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Short long bone, Talipes equinovarus, Pterygium, Anisospondyly |
OMIM:224410 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... |
OMIM:257200 |
| Sponastrime Dysplasia |
|
Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax... |
ORPHA:93357 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Di... |
ORPHA:231214 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Clinodactyly of the 5th finge... |
OMIM:274000 |
| Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension |
OMIM:219080 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenome... |
ORPHA:1133 |
| Sneddon Syndrome |
|
Atrophic scars, Lymphopenia, Bicuspid aortic valve |
OMIM:182410 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Elevated circulating phytanic acid concentration, Cardio... |
OMIM:266500 |
| Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Vertebral compression fracture, Wormian bones, Kyphoscoliosis |
OMIM:618644 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... |
ORPHA:292 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Ky... |
ORPHA:94065 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... |
OMIM:620306 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Shor... |
OMIM:250250 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension |
OMIM:610475 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Sc... |
ORPHA:2671 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Thrombocytopenia, Reticulocytopeni... |
ORPHA:508542 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Abnormal ti... |
ORPHA:2879 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, ... |
OMIM:612541 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
| Otoonychoperoneal Syndrome |
|
Popliteal pterygium, Abnormal diaphysis morphology, Flexion contracture, Knee flexion contracture |
ORPHA:2793 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Prominent metopic ridge, Abnormal atrioventricular valve p... |
ORPHA:576 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Genu valg... |
OMIM:618493 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Aortic regurgitation, Tricuspid regurgitation, Sandal gap, Recu... |
ORPHA:230851 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced... |
ORPHA:90362 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Delayed... |
ORPHA:221008 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal... |
ORPHA:935 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Rett Syndrome |
|
Kyphosis, Gait apraxia, Gait ataxia, Short foot, Scoliosis, Truncal ataxia, Abnormal T-wave, Prol... |
OMIM:312750 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures |
ORPHA:319487 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Adducted thumb |
ORPHA:171430 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Short neck, Abno... |
ORPHA:2911 |
| Cystinosis |
|
Gait disturbance, Rickets, Portal hypertension |
ORPHA:213 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
| Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Ataxia, Bowing of the legs, Coxa valga, Accelerated skeletal maturation... |
OMIM:617164 |
| Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Postaxial foot... |
OMIM:607330 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
| Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... |
ORPHA:324410 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... |
OMIM:210710 |
| H Syndrome |
|
Hallux valgus, Recurrent fractures, Delayed skeletal maturation, Abnormal cardiovascular system p... |
ORPHA:168569 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Joint stiffness, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis |
ORPHA:702 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Pelvic... |
OMIM:304150 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Mitral regurgitation |
OMIM:603387 |
| Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co... |
OMIM:309350 |
| Kallmann Syndrome |
|
Ataxia, Recurrent fractures, Delayed skeletal maturation, Reduced bone mineral density, Gait dist... |
ORPHA:478 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Osteolysis, Pathologic fracture, Vertebral compression fracture, Joint contracture of... |
OMIM:263700 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... |
OMIM:300842 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Hurler Syndrome |
|
Angina pectoris, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormality o... |
ORPHA:93473 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Ataxia, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent pro... |
OMIM:300966 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Abnormal... |
ORPHA:2789 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S... |
OMIM:618641 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog... |
ORPHA:85212 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... |
OMIM:259775 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... |
ORPHA:261330 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Raynaud phenomenon, Vascul... |
ORPHA:1855 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Micromelia, Postaxial polydactyly, Fl... |
OMIM:614091 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphad... |
ORPHA:549 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand... |
ORPHA:958 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O... |
OMIM:614204 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short 5th metacarpal |
ORPHA:66518 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... |
OMIM:619183 |
| Dyskeratosis Congenita |
|
Telangiectasia of the skin, Recurrent fractures, Osteoporosis, Scoliosis, Avascular necrosis, Coa... |
ORPHA:1775 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Short foot, Spina bifida occulta... |
ORPHA:488434 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, ... |
OMIM:620076 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip ... |
OMIM:106300 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... |
ORPHA:2307 |
| Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Vertebral compression fracture, Bone pain |
ORPHA:29073 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Epiphyseal dysplasia, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly,... |
ORPHA:14 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Bone pain, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, ... |
OMIM:618143 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension |
OMIM:610489 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Coxa valga, Splenomegaly, ... |
OMIM:608149 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Congestive heart failure, Flexion contracture, Cardiomyopathy, Arthr... |
OMIM:616866 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Rocker... |
ORPHA:79474 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Talipes equi... |
OMIM:248700 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis |
OMIM:128100 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Hypertension, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Hypertens... |
ORPHA:636 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Dense calvaria |
OMIM:252930 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
| Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Tracheomalacia, Congestive heart failure, Small hand, Reduced bone mineral d... |
ORPHA:2108 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypoplas... |
OMIM:230500 |
| Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Joint hypermobility, Cardiomegaly |
OMIM:618798 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
| Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
| Stickler Syndrome |
|
Joint dislocation, Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation... |
ORPHA:828 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Delayed skeletal maturation, Hip dislocation, Short neck |
OMIM:608776 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Kyphosis, Acromicria, Small hand, Osteoporosis, Genu valgum, Short foot, ... |
OMIM:176270 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
| Brittle Cornea Syndrome 2 |
|
Gait disturbance, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop... |
OMIM:617063 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leu... |
ORPHA:32960 |
| Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... |
OMIM:169400 |
| Mirage Syndrome |
|
Hyponatremia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, T... |
OMIM:617053 |
| Sialidosis Type 1 |
|
Ataxia, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Gait distur... |
ORPHA:812 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Autoamputation of digits, Broad-based gait, Ataxia, Osteomyelitis leading to amputation due to sl... |
OMIM:256810 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Genu valgum, Joint... |
ORPHA:534 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Osteoporosis, Gout, Increased susceptibility to fractures, Hypertension, P... |
ORPHA:79259 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte... |
ORPHA:2021 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Slender toe, Genu valgum... |
ORPHA:193 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio... |
OMIM:603116 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... |
OMIM:130720 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Limited... |
ORPHA:268 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Inability to walk, Deviation of the 2nd finger, 2-3... |
ORPHA:464738 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... |
ORPHA:1225 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:314588 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Splenomegaly, ... |
OMIM:604173 |
| Alexander Disease |
|
Osteopenia, Ataxia, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Hypertension, Gait... |
ORPHA:58 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Kyphosis, Gait ataxia |
ORPHA:500180 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentrati... |
ORPHA:2785 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Thrombocytopenia, Hypoplasia of the capital femoral epiphysis, Abnormal... |
OMIM:242900 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Metaphyseal irregular... |
OMIM:239200 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:269700 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finge... |
ORPHA:261349 |
| Pgm3-Cdg |
|
Hemolytic anemia, Brachydactyly, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosi... |
ORPHA:443811 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Arthrogryposis mu... |
OMIM:608013 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Cockayne Syndrome Type 2 |
|
Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Difficulty walking |
ORPHA:90322 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Lipoma |
OMIM:612918 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, T... |
OMIM:222700 |
| Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures |
ORPHA:1656 |
| Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertroph... |
ORPHA:79330 |
| Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Reflex asystolic syncope, Arrhythmia, Brachydactyly |
ORPHA:79329 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Pericarditis, Joint stiffness, Mediastinal lymphadenopathy, Splen... |
ORPHA:809 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... |
OMIM:613327 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly,... |
OMIM:235255 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Osteop... |
OMIM:232220 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Short neck, Kyphosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cubit... |
OMIM:619745 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... |
OMIM:151050 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Myocarditi... |
ORPHA:36234 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Congestive heart failure, Tibial bowing, Femoral bowi... |
OMIM:616482 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal thumb, Contracture of the... |
ORPHA:2232 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Gait disturbance, Scoliosis |
ORPHA:500055 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Bone pain, Rickets |
OMIM:612089 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Kyphosis... |
OMIM:616914 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Joint stiffness, Follicular hyperplasia, P... |
OMIM:615934 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Hyperlipidemi... |
ORPHA:1830 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Dilated card... |
ORPHA:3260 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Acute pancreatitis, Hypertrigly... |
OMIM:608594 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Bone pain, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp... |
ORPHA:247353 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Kyphosis, Aortic valve stenosis, Scoliosis, Pulmonic s... |
OMIM:609029 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Sagittal craniosynostosis, P... |
OMIM:610199 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons... |
ORPHA:67 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas... |
ORPHA:1655 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ataxia, Kyphosis, Dysmetria, Ankle clonus, Gait disturbance, Scoliosis |
ORPHA:88644 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
| 3C Syndrome |
|
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Abnormal hip bone morph... |
ORPHA:7 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Increased density of long bones, Wide distal femoral metaphysis, Postaxial ... |
OMIM:269150 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Kyphosis, Genu recurvatum, Scoliosis |
ORPHA:364028 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
| Alstrom Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hype... |
OMIM:203800 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Hip dysplasi... |
OMIM:610443 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Ventricular septal de... |
ORPHA:84064 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, Aplasia of the 1st... |
ORPHA:476126 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Portal hypertension, Delayed skeletal maturation, Rickets, Reduced bone... |
OMIM:613658 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Ankylosis, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, Hip dysplasia, S... |
ORPHA:398069 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Ataxia, Short hallux, Preaxial hand polyd... |
ORPHA:280 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233710 |
| Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Ataxia, Rickets |
OMIM:212750 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect... |
ORPHA:2306 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... |
ORPHA:404440 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Pericardial effu... |
ORPHA:167 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal ... |
ORPHA:500095 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... |
OMIM:617061 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Tapered finger... |
OMIM:620005 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, J... |
OMIM:617602 |
| Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... |
ORPHA:3378 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:233690 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet... |
OMIM:608233 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat... |
OMIM:277900 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Abnormal cardiac ventricular function, Congestive heart failure, Hip dislocation, J... |
ORPHA:90349 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Lipoatrophy, Cardiomegaly |
ORPHA:349 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Inguinal hernia, Dilated cardiomyopathy, Limb undergrow... |
OMIM:616541 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Ankle clonus, Gait imbalance, Scoliosis, Truncal ataxia |
OMIM:211530 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal... |
ORPHA:77293 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Art... |
OMIM:260920 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis |
OMIM:617143 |
| Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Delayed skeletal maturation, Platyspondyly, Mitral regurgitation, Spondyl... |
OMIM:208400 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed skeletal maturation, Cortical thicken... |
ORPHA:93325 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Kyphosis, Delayed skeletal maturation, Coronal craniosynost... |
ORPHA:85199 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis... |
ORPHA:391487 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
| Fusariosis |
|
Brain abscess, Fasciitis, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Ce... |
ORPHA:228119 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Th... |
OMIM:300972 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Tricuspid regurgitation, Short neck, Kyphosis, Mesomelia, Scoliosis, C... |
OMIM:616894 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoplastic scapulae, Ventricular septal defect, Bowi... |
OMIM:269860 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Ataxia, Kyphosis, Flexion contracture, Dysmetria, Cardiomyopathy |
OMIM:212065 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
| Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Congestive heart failure, Split hand, Flexion contracture, Tracheobronchoma... |
OMIM:309900 |
| Vici Syndrome |
|
Atrial septal defect, Elevated circulating creatine kinase concentration, Decreased proportion of... |
OMIM:242840 |
| Keppen-Lubinsky Syndrome |
|
Flexion contracture, Scoliosis, Increased susceptibility to fractures |
ORPHA:435628 |
| Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... |
ORPHA:558 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Avascular necrosis of th... |
OMIM:222470 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemi... |
OMIM:619573 |
| Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyelit... |
OMIM:614162 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... |
ORPHA:1507 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:37042 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa v... |
OMIM:182250 |
| Hennekam Syndrome |
|
Lymphopenia, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Pericardial effusion, ... |
ORPHA:2136 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:480520 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... |
OMIM:127550 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, Scoliosis |
OMIM:617011 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien... |
OMIM:301074 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Kyphosis, Dysmetria, Knee flexion contracture, Bilateral talipes equinovarus, Overlapping... |
OMIM:619708 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga... |
ORPHA:171 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... |
OMIM:306400 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Splenomeg... |
OMIM:617913 |
| Craniopharyngioma |
|
Cerebral ischemia, Myocardial infarction, Increased susceptibility to fractures |
ORPHA:54595 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Multiple joint contractures,... |
ORPHA:464306 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Shortened QT interval, Osteolysis, Increased susceptibility to fractures, Melena, Hy... |
ORPHA:652 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Hy... |
ORPHA:90041 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot,... |
ORPHA:464311 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Long fingers, Postaxial hand polydac... |
ORPHA:521426 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu... |
OMIM:276700 |
| Blue Rubber Bleb Nevus |
|
Pathologic fracture, Intestinal bleeding |
OMIM:112200 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Knee flexion contr... |
OMIM:619194 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Myocardial infarction, Short neck, Reduced bone mineral density, Short 5th metacarpal... |
ORPHA:881 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
| Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Transient ischemic attack, Osteomalacia, Left ventricular systolic dysfu... |
ORPHA:51608 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an... |
OMIM:278250 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Telangiectasia of the skin, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, R... |
ORPHA:97685 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Icf Syndrome |
|
Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... |
OMIM:177850 |
| Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis |
OMIM:307030 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:2075 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint... |
ORPHA:457359 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Hip dysplasia, Mitral regurgitatio... |
ORPHA:261250 |
| Lujo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Ful... |
ORPHA:319213 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
| Monosomy 9Q22.3 |
|
Short neck, Accelerated skeletal maturation, Kyphosis, Joint hyperflexibility, Abnormality of the... |
ORPHA:77301 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Joint dislocation, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Joint dislocation, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, ... |
ORPHA:363958 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Clinodactyly, Corneal scarring, Neutropenia, Joint contracture, Lymphopeni... |
OMIM:618460 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... |
OMIM:616084 |
| Cockayne Syndrome B |
|
Ataxia, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of... |
OMIM:133540 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Scoliosis, Pulmonary arterial hypertension |
OMIM:616449 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Short hallux, Metatarsus add... |
OMIM:194190 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture |
OMIM:614231 |
| Cockayne Syndrome A |
|
Hip contracture, Ataxia, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the phalanges... |
OMIM:216400 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large joints |
OMIM:617527 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contractu... |
ORPHA:365 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Hemivertebrae, Talipes equinovarus, Radial ... |
OMIM:301040 |
| Campomelia, Cumming Type |
|
Bowing of the long bones |
OMIM:211890 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hep... |
ORPHA:51 |
| Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic... |
OMIM:620185 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid... |
ORPHA:567983 |
| Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611134 |
| Familial Multiple Lipomatosis |
|
Bowing of the long bones, Accelerated skeletal maturation |
ORPHA:199276 |
| Cowden Syndrome |
|
Brachydactyly, Ataxia, Kyphosis, Bone cyst, Scoliosis, Mucosal telangiectasiae |
ORPHA:201 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Overlapping toe, Scarring, Microcytic anemia, Leukocytosis, Limb unde... |
ORPHA:99843 |
| Micro Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Abnormal... |
ORPHA:2461 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Joint stiffn... |
ORPHA:744 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Splenomegal... |
ORPHA:95159 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Whim Syndrome |
|
Lymphadenitis, Cellulitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymp... |
ORPHA:51636 |
| Primrose Syndrome |
|
Hip contracture, Ataxia, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contracture,... |
OMIM:259050 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Cystinosis, Nephropathic |
|
Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Hypophosphatemic rickets |
OMIM:219800 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow flex... |
ORPHA:97297 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Zttk Syndrome |
|
Aortic regurgitation, Craniosynostosis, Kyphosis, Flexion contracture, Small hand, Hemivertebrae,... |
OMIM:617140 |
| Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:963 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Inguinal hernia, Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, Abnormality of connective t... |
ORPHA:91387 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... |
OMIM:303600 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Short neck,... |
OMIM:249000 |
| Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La... |
ORPHA:314769 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia, Akinesia |
ORPHA:97349 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Pathologic fracture, Delayed skeletal maturation, Osteoporosis |
ORPHA:470 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir... |
ORPHA:90363 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:116 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Ataxia-Telangiectasia |
|
Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leukemia, T lymphocytop... |
OMIM:208900 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Sacral dimple, Broad-based gait, Ataxia, Tapered finger, Abn... |
ORPHA:268261 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Athetosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosi... |
OMIM:300967 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Stiff neck, Neutrophilia, Elevated circulating creatine kinase ... |
ORPHA:99827 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... |
OMIM:276820 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
| Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hand po... |
ORPHA:401973 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... |
OMIM:181000 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Back pain, Aortic regurgitation, Osteomyelitis, Broad-based gait, Ataxia, Kyphosis,... |
OMIM:619475 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Recurrent fractur... |
ORPHA:2152 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous... |
ORPHA:95430 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Increased femoral anteversion, Decreased heart rate variability, Scoliosis |
OMIM:619005 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... |
ORPHA:818 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Accelerated skeletal maturation |
OMIM:300942 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Short lower limbs, Bowing of the legs |
OMIM:219250 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Kyphosis, Dilated cardiomyopathy, Spinal canal stenosis... |
ORPHA:1606 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Umbilical hernia |
ORPHA:96191 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Unsteady gait, Cardiomyop... |
ORPHA:90324 |
| Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
OMIM:135900 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Dysmetria, Ankle clonus, Dysdiadochokinesis, Difficulty walking |
ORPHA:171629 |
| Ramon Syndrome |
|
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Telangiectasia |
OMIM:266270 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphy... |
OMIM:617088 |
| Cockayne Syndrome |
|
Ataxia, Kyphosis, Inability to walk, Retinal hemorrhage, Contractures of the large joints, Congen... |
ORPHA:191 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis, Unsteady gait, Congestive heart failure |
OMIM:615512 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia |
ORPHA:1393 |
| Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
| Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
| Charge Syndrome |
|
Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect, Aplasia/Hypo... |
OMIM:214800 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, ... |
OMIM:130650 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis, Sinus bradycardia |
OMIM:619482 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, ... |
ORPHA:2273 |
| Viss Syndrome |
|
Long toe, Joint laxity, Recurrent joint dislocation, Epidural hemorrhage, Arachnodactyly, Rocker ... |
OMIM:619472 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Bowing of the ... |
ORPHA:564 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos... |
ORPHA:821 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Arrhythmia |
OMIM:153400 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Hyperlordosis, Short thumb, Preaxial hand polydactyly, K... |
OMIM:113620 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| Thauvin-Robinet-Faivre Syndrome |
|
Large hands, Long hallux, Bowing of the legs |
OMIM:617107 |
| Alström Syndrome |
|
Thoracic scoliosis, Ataxia, Portal hypertension, Accelerated skeletal maturation, Kyphosis, Short... |
ORPHA:64 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Aortic regurgitation, Genu recurvatum, Calcaneovalgus deformity, Mitral regurgitation |
OMIM:225320 |
