Pacman Dysplasia |
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Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
Metaphyseal Anadysplasia 2 |
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Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs |
OMIM:613073 |
Prenatal Bowing |
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Bowing of the long bones |
OMIM:264050 |
Blount Disease |
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Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis |
ORPHA:2768 |
Syndactyly Type 4 |
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Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal irregularity, Flattene... |
ORPHA:93356 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... |
ORPHA:2502 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Camptomelic Syndrome, Long-Limb Type |
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Bowing of the long bones, Micromelia |
OMIM:211990 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Acheiropodia |
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Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Acromesomelic Dysplasia 2C |
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Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Osebold-Remondini Syndrome |
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Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Absent tibia, Polydactyly |
OMIM:188740 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... |
OMIM:300106 |
Tibia, Absence Of, With Congenital Deafness |
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Absent tibia |
OMIM:275230 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Mesomelic Dysplasia, Savarirayan Type |
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Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Acromesomelic Dysplasia 2A |
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Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Caffey Disease |
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Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Weismann-Netter Syndrome |
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Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Laurin-Sandrow Syndrome |
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Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
Acromesomelic Dysplasia, Grebe Type |
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Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Léri-Weill Dyschondrosteosis |
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Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Leri-Weill Dyschondrosteosis |
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Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Grant Syndrome |
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Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
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Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Langer Mesomelic Dysplasia |
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Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the ulna, Rudimenta... |
OMIM:249700 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Metaphyseal cupping, Irregular tarsal bones, Talipes equinovarus, Short finger, Flared iliac wing... |
OMIM:250220 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
Acheiropody |
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Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Dyschondrosteosis And Nephritis |
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Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Metaphyseal Acroscyphodysplasia |
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Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... |
OMIM:250215 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration, Short metac... |
ORPHA:93317 |
Fibular Hemimelia |
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Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... |
OMIM:271665 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Irregular epiphyses, Small epiphyses, Metaphyseal irregularity, Long fibula, Narrow iliac wing, F... |
OMIM:610442 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Long fibula, Abnormality of the metaphysis |
ORPHA:935 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... |
OMIM:211350 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia |
ORPHA:85165 |