Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... |
OMIM:249700 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ... |
ORPHA:1972 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnata... |
OMIM:232700 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
Slc35A2-Cdg |
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Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finger, Short stature, Fa... |
ORPHA:356961 |
Mesomelic Dysplasia, Savarirayan Type |
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Short stature, Talipes equinovalgus, Abnormal foot morphology, Hip dislocation, Mesomelia, Short ... |
OMIM:605274 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Orofaciodigital Syndrome Viii |
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Syndactyly, Short tibia, Short stature, Polydactyly |
OMIM:300484 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short femur, Small for gestational age, Rhizomelia, Hypoglycemia, Sandal gap, Shor... |
OMIM:607143 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Temple Syndrome |
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Short stature, Small for gestational age, Postnatal growth retardation, Small hand, Obesity, Shor... |
ORPHA:254516 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Orofaciodigital Syndrome Type 10 |
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Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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11 pairs of ribs, Short stature, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equin... |
OMIM:201170 |
Obesity Due To Sim1 Deficiency |
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Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Tibial Hemimelia |
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Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Stuve-Wiedemann Syndrome 1 |
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Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Bent Bone Dysplasia Syndrome 2 |
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Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowi... |
OMIM:620076 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Orofaciodigital Syndrome Iv |
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Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Femoral-Facial Syndrome |
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Inguinal hernia, Short femur, Short stature, Maternal diabetes, Micrognathia, Coxa vara, Abnormal... |
ORPHA:1988 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Gollop-Wolfgang Complex |
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Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly... |
OMIM:615630 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hyperactivity, Short stature, Hypoglycemia, Small for gestational age, Micrognathia, Postnatal gr... |
ORPHA:73272 |
Microcephaly-Micromelia Syndrome |
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Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Miss... |
OMIM:251230 |
Eiken Syndrome |
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Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor... |
ORPHA:79106 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... |
ORPHA:93356 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Large for gestational age, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... |
ORPHA:96334 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate-hamate fusion, 2-3 toe cutaneo... |
OMIM:206920 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Mody |
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Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... |
OMIM:613027 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Donohue Syndrome |
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Postnatal growth retardation, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Large hands, Se... |
OMIM:246200 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d... |
ORPHA:85170 |
Silver-Russell Syndrome Due To A Point Mutation |
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Syndactyly, Inguinal hernia, Hypoglycemia, Small for gestational age, Micrognathia, Postnatal gro... |
ORPHA:397590 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Micrognathia, Flexion contracture, Hyperglycemia, Hepatomegaly, Short clavicles, Short distal pha... |
OMIM:248370 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Lethargy, Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Ataxia, Proximal placement o... |
OMIM:616263 |
Acromelic Frontonasal Dysostosis |
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Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Occipital Horn Syndrome |
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Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Aplastic clavic... |
ORPHA:198 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
Atelosteogenesis Type Iii |
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Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Dyggve-Melchior-Clausen Disease |
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Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Orofaciodigital Syndrome Type 2 |
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Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... |
OMIM:119800 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Seckel Syndrome 1 |
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11 pairs of ribs, Pes planus, Hyperactivity, Ivory epiphyses, Sandal gap, Abnormal finger flexion... |
OMIM:210600 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Eiken Syndrome |
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Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... |
OMIM:171480 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Microgna... |
OMIM:618150 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic ... |
OMIM:208500 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Thrombocytopenia-Absent Radius Syndrome |
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Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Argininemia |
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Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... |
OMIM:207800 |
Fibrochondrogenesis 1 |
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Omphalocele, Short palm, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long... |
OMIM:228520 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... |
OMIM:236680 |
Acromelic Frontonasal Dysplasia |
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Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
Omodysplasia 2 |
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Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Campomelic Dysplasia |
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Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Inguinal hernia, Brachydactyly, Rhizomelia, Broad toe, Malformation of the hepatic ... |
OMIM:218330 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Campomelic Dysplasia |
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11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Micr... |
ORPHA:140 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Kinsship Syndrome |
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Pes planus, Short stature, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Mesomel... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... |
ORPHA:2753 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Charge Syndrome |
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Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Postnatal growth retar... |
OMIM:214800 |
Osteopathia Striata With Cranial Sclerosis |
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Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Short stature, Arachnodactyly, Microg... |
OMIM:300373 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Postnatal growth retardation, H... |
ORPHA:3404 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi... |
ORPHA:444077 |