Dwarfism With Tall Vertebrae |
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Increased vertebral height, Coxa vara |
OMIM:126950 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... |
OMIM:184255 |
Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
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Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Bilateral coxa valga |
ORPHA:163665 |
Primary Basilar Invagination |
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Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... |
OMIM:609324 |
Epiphyseal Dysplasia, Multiple, 6 |
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Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... |
OMIM:614135 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the radius, Vertebral segmentation defect, Abnormal morphology of ulna, Apl... |
ORPHA:1570 |
Autosomal Dominant Brachyolmia |
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Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
Acrodysplasia Scoliosis |
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Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
Spondylometaphyseal Dysplasia, Type A4 |
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Platyspondyly, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic hume... |
OMIM:609052 |
Acromesomelic Dysplasia, Maroteaux Type |
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Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Beaking of ve... |
ORPHA:40 |
Galactosialidosis |
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Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... |
ORPHA:1802 |
Acropectorovertebral Dysplasia |
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Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... |
OMIM:102510 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Osteomesopyknosis |
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Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Osteoarthritis With Mild Chondrodysplasia |
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Platyspondyly, Schmorl's node, Beaking of vertebral bodies, Heberden's node, Irregular vertebral ... |
OMIM:604864 |
Spondylocamptodactyly Syndrome |
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Platyspondyly, Scoliosis, Camptodactyly of finger |
ORPHA:3180 |
Robin Sequence-Oligodactyly Syndrome |
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Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta... |
ORPHA:3104 |
Spinal Dysplasia, Anhalt Type |
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Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... |
OMIM:601344 |
Pelvis-Shoulder Dysplasia |
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Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic... |
OMIM:169550 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Smith-Mccort Dysplasia 1 |
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Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... |
OMIM:607326 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... |
ORPHA:1436 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Hypochondroplasia |
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Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... |
ORPHA:429 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Abnormal form of the vertebral bodies, Diaphyseal undertubulation, Abno... |
ORPHA:2790 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flatten... |
ORPHA:93356 |
Pseudoachondroplasia |
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Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... |
OMIM:156510 |
Ulna Metaphyseal Dysplasia Syndrome |
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Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
Weismann-Netter Syndrome |
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Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
Kuskokwim Syndrome |
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Aplasia/Hypoplasia of the radius, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypop... |
ORPHA:1149 |
Fibrodysplasia Ossificans Progressiva |
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Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of th... |
ORPHA:337 |
Thoracolaryngopelvic Dysplasia |
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Hypoplastic iliac wing, Hypoplastic pelvis, Horizontal ribs, Short ribs, Metaphyseal widening, Na... |
OMIM:187760 |
Solitary Bone Cyst |
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Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
Thanatophoric Dysplasia, Type Ii |
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Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Short ribs,... |
OMIM:187601 |
Sillence Syndrome |
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Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Small epiphyses, Fe... |
OMIM:608728 |
Ulnar Hemimelia |
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Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Carpal s... |
ORPHA:93320 |
Schneckenbecken Dysplasia |
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Platyspondyly, Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Narrow vertebral i... |
OMIM:269250 |
Mesomelic Dysplasia, Kantaputra Type |
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Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... |
ORPHA:1836 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Dyggve-Melchior-Clausen Disease |
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Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu... |
OMIM:223800 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... |
OMIM:277300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... |
OMIM:602111 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
Platyspondylic Dysplasia, Torrance Type |
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Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypopla... |
ORPHA:85166 |
Nevus Comedonicus Syndrome |
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Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... |
ORPHA:64754 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... |
ORPHA:93352 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
Thanatophoric Dysplasia, Type I |
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Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow... |
OMIM:187600 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Short neck, Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Scoliosis, Fus... |
OMIM:618469 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Foot polydactyly, Vertebral segmentation defect, Split hand, Phocomelia |
ORPHA:3004 |
Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... |
ORPHA:1427 |
Fibrochondrogenesis 1 |
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Hypoplastic ischia, Thin ribs, Hypoplastic scapulae, Small hand, Platyspondyly, Posterior rib cup... |
OMIM:228520 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Hypoplastic scapulae, Femoral retroversion, Scoliosis, Kyphosis |
ORPHA:79107 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis morphology, Campt... |
ORPHA:2021 |
Pelviscapular Dysplasia |
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Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Humeroradial synostosis, Shor... |
ORPHA:93333 |
Dystonia-Deafness Syndrome 1 |
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Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis |
OMIM:607371 |
Acro-Renal-Mandibular Syndrome |
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Thin ribs, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Rudimentary to ... |
ORPHA:958 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Lumbar hyperlordosis... |
OMIM:602471 |
Schneckenbecken Dysplasia |
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Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Fibular hypoplasia... |
ORPHA:3144 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... |
ORPHA:93315 |
Vacterl Association With Hydrocephalus |
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Radial club hand, Abnormality of the vertebral column, Absent thumb, Abnormal vertebral morphology |
OMIM:276950 |
Crane-Heise Syndrome |
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Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... |
ORPHA:1452 |
Achondrogenesis, Type Ia |
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Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Hypopl... |
OMIM:200600 |
Acrorenal-Mandibular Syndrome |
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Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
Campomelic Dysplasia |
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Small abnormally formed scapulae, Kyphosis, 11 pairs of ribs, Femoral bowing, Tibial bowing, Fibu... |
ORPHA:140 |
Cousin Syndrome |
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Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the femoral head, Fibular aplasia, A... |
OMIM:260660 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Hypoplastic scapulae, Femoral bowing, Dumbbell-shaped long bone, Brachydactyly, Metaphyseal widen... |
ORPHA:440354 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... |
OMIM:308050 |
Cleidocranial Dysplasia 1 |
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Aplastic clavicle, Hypoplastic scapulae, Spondylolysis, Scoliosis, Kyphosis, Cervical ribs, Hypop... |
OMIM:119600 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Hypoplastic scapulae, Absent thumb, Hypoplastic pelvis, Short clavicles, Bowed humerus |
OMIM:618022 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Short distal phalanx of finger, Hypoplastic scapulae, Polydactyly, Bowing of the long bones, Post... |
OMIM:614091 |
Van Den Ende-Gupta Syndrome |
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2-3 toe cutaneous syndactyly, Thin ribs, Hypoplastic scapulae, Long metacarpals, Camptodactyly of... |
OMIM:600920 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... |
OMIM:210720 |
Mucolipidosis Ii Alpha/Beta |
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Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
Osteoglophonic Dysplasia |
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Platyspondyly, Hypoplastic scapulae, Broad thumb, Short thumb, Camptodactyly of finger, Bowing of... |
OMIM:166250 |
Campomelic Dysplasia |
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Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... |
OMIM:309350 |
Steinfeld Syndrome |
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Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... |
OMIM:184705 |
Short-Rib Thoracic Dysplasia 12 |
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Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Horizontal ribs, Short ribs, Sh... |
OMIM:269860 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arach... |
ORPHA:95699 |
Holt-Oram Syndrome |
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Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Radioulnar synostos... |
OMIM:142900 |
Bartsocas-Papas Syndrome 1 |
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Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... |
OMIM:263650 |
Ulnar-Mammary Syndrome |
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Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... |
OMIM:181450 |
Yunis-Varon Syndrome |
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Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Anterior concavity of thoracic vertebrae, Fla... |
OMIM:216340 |
Tetrasomy 9P |
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Hypoplastic scapulae, Small hand, Missing ribs, Small toe, Short neck, Clinodactyly of the 5th fi... |
ORPHA:3310 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Flexion cont... |
OMIM:256040 |