Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... |
OMIM:609324 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... |
OMIM:614135 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Spinal canal steno... |
ORPHA:429 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Pear-shap... |
ORPHA:93356 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... |
OMIM:300434 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta... |
ORPHA:99642 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Abnormal form of the ve... |
ORPHA:1837 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... |
ORPHA:2370 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Femoral bo... |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Mesomelia, Vertebral segmentation defect, Abno... |
ORPHA:2631 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Short 3rd metacarpal,... |
OMIM:118651 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia |
OMIM:238700 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... |
ORPHA:239 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Self-injurious beha... |
OMIM:619467 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone m... |
ORPHA:1803 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Abnormal repetitive mannerisms |
OMIM:615541 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Abnormal pelvis bone morphology |
ORPHA:2206 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Spi... |
OMIM:307800 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... |
ORPHA:93316 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Delayed epiphyseal ossification, Genu... |
OMIM:602557 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short femo... |
OMIM:249700 |
Ck Syndrome |
|
Long toe, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, Long fingers,... |
ORPHA:251383 |
Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... |
ORPHA:474 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Clinodactyly of the 5th finger,... |
OMIM:609425 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Abnormal pelvic girdle bone morpholog... |
OMIM:610967 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Hyperactivity |
OMIM:300928 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Long penis, Coxa vara, Abnormal fibula morphology, Verte... |
ORPHA:1988 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... |
OMIM:620141 |
Shox-Related Short Stature |
|
Short neck, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Scoliosis, Lower limb un... |
ORPHA:314795 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short metacarpal, Sand... |
ORPHA:1427 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal ve... |
ORPHA:93315 |
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 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... |
OMIM:156550 |
Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis, Abnormal digit morphology |
OMIM:300831 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Gand Syndrome |
|
Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter |
OMIM:615074 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Hypospadias, Short metatarsal, Spinal canal stenosis, Advanced o... |
OMIM:614613 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Lymphopenia, A... |
ORPHA:391307 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Impulsivity, Ectopic kidney, Aplasia/Hypoplasia of the... |
ORPHA:3027 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... |
OMIM:261600 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Sandal gap, Abnormal repetitive mannerisms, Self-injurious be... |
ORPHA:228402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Short neck, Bruxism, Recurrent hand flapping, Slender finger |
OMIM:613192 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Abnormality of t... |
OMIM:123000 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Abnormal temper tantru... |
ORPHA:530983 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... |
ORPHA:3429 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Elevated circulating cre... |
OMIM:167320 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies,... |
ORPHA:1458 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... |
OMIM:600785 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Split hand, Micropenis, Abnormal pelvic girdle bone morpho... |
OMIM:157900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Fragile X Syndrome |
|
Hyperactivity, Self-biting, Scoliosis, Recurrent hand flapping, Metacarpophalangeal joint hyperex... |
OMIM:300624 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior, Scoliosis |
OMIM:620023 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... |
OMIM:607634 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the ... |
ORPHA:397973 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... |
ORPHA:3035 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Lymphopenia, L... |
OMIM:250250 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Bulging epiphyses, Renal insufficiency, Bowing of the legs, Del... |
OMIM:300554 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal fem... |
ORPHA:352540 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Scoliosis, Recurrent han... |
OMIM:617600 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Short toe, Type E ... |
OMIM:600430 |
Osteopetrosis, Autosomal Dominant 2 |
|
Abnormality of the vertebral endplates, Abnormal pelvic girdle bone morphology, Fractures of the ... |
OMIM:166600 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Irregular vertebral e... |
OMIM:222765 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... |
OMIM:206920 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... |
ORPHA:140 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... |
OMIM:108720 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Hyperactivity, Pancytopenia, Sandal gap, Abnormal finger flexion crease, Hypospa... |
OMIM:210600 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Ele... |
OMIM:302960 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Bow... |
OMIM:272460 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Pla... |
OMIM:166210 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:241530 |
Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Kyphoscoliosis, Hip dysplasia, Camptodactyly, Self-mutilation, Hemihypotrophy of l... |
ORPHA:412035 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone ... |
ORPHA:1328 |
Geroderma Osteodysplasticum |
|
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... |
OMIM:231070 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
X-Linked Intellectual Disability, Cabezas Type |
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Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short... |
ORPHA:85293 |
Osteogenesis Imperfecta, Type Iii |
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Protrusio acetabuli, Kyphosis, Tibial bowing, Slender long bone, Scoliosis, Biconcave vertebral b... |
OMIM:259420 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Harrod Syndrome |
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Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Abnormal shoulder morphology... |
ORPHA:2115 |
Mesomelia-Synostoses Syndrome |
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Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thora... |
OMIM:252920 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Stankiewicz-Isidor Syndrome |
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Ureteral duplication, Sacral dimple, Hyperactivity, Hypospadias, Absent thumb, Short thumb, 2-3 t... |
OMIM:617516 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolum... |
OMIM:252930 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bo... |
OMIM:600081 |
Atelosteogenesis Type Iii |
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Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Axial Mesodermal Dysplasia Spectrum |
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Short neck, Abnormality of the spleen, Abnormality of the ureter, Abnormal form of the vertebral ... |
ORPHA:1834 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, S... |
OMIM:252900 |
Microphthalmia With Limb Anomalies |
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Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Aredyld Syndrome |
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Splenomegaly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Scoliosis, Brach... |
ORPHA:1133 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... |
ORPHA:1452 |
Mucopolysaccharidosis, Type Iiid |
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Restlessness, Hyperactivity, Thoracic scoliosis, Pilonidal sinus, Epiphyseal dysplasia, Aggressiv... |
OMIM:252940 |
Stuve-Wiedemann Syndrome 1 |
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Short neck, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Clubbing, Abnorm... |
OMIM:601559 |
Purine Nucleoside Phosphorylase Deficiency |
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Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Osteogenesis Imperfecta, Type Viii |
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Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, S... |
OMIM:610915 |
Osteogenesis Imperfecta, Type X |
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Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Micromelia, Nephrolithiasi... |
OMIM:613848 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Hemivertebrae... |
ORPHA:1112 |
Isolated Epispadias |
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Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Abnormal pelvic girdle bo... |
ORPHA:93928 |
Osteogenesis Imperfecta |
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Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... |
ORPHA:666 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... |
OMIM:143095 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... |
OMIM:102700 |
Campomelic Dysplasia |
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Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Abnormal sacroiliac jo... |
ORPHA:289176 |
Caffey Disease |
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Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Intellectual Disability, Buenos-Aires Type |
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Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumb... |
ORPHA:3079 |
Melnick-Needles Syndrome |
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Short humerus, Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae,... |
OMIM:309350 |
Bladder Exstrophy And Epispadias Complex |
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Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... |
OMIM:600057 |
Distal Duplication 17Q |
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Hallux valgus, Accessory spleen, Hyperactivity, Rhizomelia, Arachnodactyly, Overlapping toe, Genu... |
ORPHA:3379 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short me... |
OMIM:304120 |
Myhre Syndrome |
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Vertebral fusion, Overlapping toe, Short neck, Short toe, 2-3 toe syndactyly, Cone-shaped epiphys... |
OMIM:139210 |
Mend Syndrome |
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Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Aggressive behavior, Kyphosis, Eleva... |
ORPHA:401973 |
Meier-Gorlin Syndrome 1 |
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Coxa valga, Aplasia/Hypoplasia of the patella, Flat glenoid fossa, Hemivertebrae, Patellar aplasi... |
OMIM:224690 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Macrocytic anemia, Short neck, Long fingers, Polysplenia, Attention deficit hypera... |
OMIM:614294 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Abnormal thumb morpholo... |
ORPHA:500095 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Sco... |
ORPHA:457284 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... |
OMIM:259770 |
Legius Syndrome |
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Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male... |
ORPHA:137605 |
Histidinemia |
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Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Ellis Van Creveld Syndrome |
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Hydroureter, Hypospadias, Micromelia, Capitate-hamate fusion, Epispadias, Abnormality of the uret... |
ORPHA:289 |