Brachydactyly-Syndactyly Syndrome |
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Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Polydactyly, Preaxial Ii |
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Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Syndactyly Type 1 |
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Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Synpolydactyly 1 |
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Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Syndactyly, Type Iii |
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Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Postaxial Tetramelic Oligodactyly |
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Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Syndactyly Type 2 |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Ureter, Cancer Of |
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Neoplasm of the ureter |
OMIM:191600 |
Santos Syndrome |
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Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Neurofaciodigitorenal Syndrome |
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Unilateral renal agenesis, Triphalangeal thumb |
OMIM:256690 |
Holzgreve Syndrome |
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Renal agenesis, Renal hypoplasia, Hand polydactyly |
OMIM:236110 |
Cenani-Lenz Syndactyly Syndrome |
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Renal agenesis, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna, Renal hypoplasia |
OMIM:212780 |
Humero-Radio-Ulnar Synostosis |
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Elbow ankylosis, Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar sy... |
ORPHA:3266 |
Hallux Varus And Preaxial Polysyndactyly |
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Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Acrocephalopolysyndactyly Type Iv |
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Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Acrorenal Syndrome |
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Renal hypoplasia/aplasia, Abnormal morphology of ulna, Abnormality of tibia morphology, Abnormal ... |
ORPHA:971 |
Acrorenal Syndrome |
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Hand oligodactyly, Abnormal renal morphology |
OMIM:102520 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Metaphyseal Anadysplasia |
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Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
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Unilateral renal agenesis, Hand polydactyly |
OMIM:235740 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Short toe, Syndactyly |
OMIM:614341 |
Syndactyly, Type Iv |
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2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Tetramelic Monodactyly |
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Split hand, Oligodactyly |
ORPHA:2564 |
Polydactyly, Postaxial, Type A5 |
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Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Crossed Polysyndactyly |
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Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
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Reduced renal corticomedullary differentiation, Avascular necrosis of the capital femoral epiphys... |
OMIM:611555 |
Syndactyly Type 3 |
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Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Ulna Metaphyseal Dysplasia Syndrome |
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Nephrolithiasis, Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula... |
ORPHA:1837 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Syndactyly, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hypoplasia |
OMIM:228940 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Syndactyly Type 5 |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Radial-Renal Syndrome |
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Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb |
OMIM:179280 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Short... |
OMIM:618845 |
Acrorenal Syndrome, Autosomal Recessive |
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Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli... |
OMIM:201310 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
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Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... |
ORPHA:1471 |
Wahab Syndrome |
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Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Spinal Muscular Atrophy With Mental Retardation |
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Syndactyly |
OMIM:271109 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Camptosynpolydactyly, Complex |
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Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A1 |
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Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Split-Hand/Foot Malformation 1 |
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Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the h... |
ORPHA:2256 |
Liebenberg Syndrome |
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Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Unilateral renal agenesis, Short distal phalanx of finger, Hydranencephaly |
OMIM:601355 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Upper limb phocomelia, Renal agenesis, Abnormal hip bone morphology, Syndactyly, Polydactyly |
ORPHA:294975 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... |
ORPHA:1307 |
Isolated Split Hand-Split Foot Malformation |
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Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
Symbrachydactyly Of Hands And Feet |
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Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
Coloboma Of Macula With Type B Brachydactyly |
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Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... |
OMIM:120400 |
Split-Hand/Foot Malformation 4 |
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Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Ring Chromosome 4 Syndrome |
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Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Chromosome 2Q35 Duplication Syndrome |
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Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Arachnodactyly, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Cryptorchidism, Unilateral Or Bilateral |
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Renal agenesis |
OMIM:219050 |
Ectrodactyly-Polydactyly Syndrome |
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Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Fibular Hemimelia |
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Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
Focal Segmental Glomerulosclerosis 7 |
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Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Pierre Robin Syndrome And Oligodactyly |
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Hand oligodactyly |
OMIM:172880 |
Renal Hypodysplasia/Aplasia 3 |
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Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
Orofaciodigital Syndrome Xvii |
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Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydac... |
OMIM:617926 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
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Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Vesicoureteral Reflux 2 |
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Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Syndactyly Type 4 |
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Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Chromosome 2Q31.1 Duplication Syndrome |
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Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Femur-Fibula-Ulna Complex |
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Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Bardet-Biedl Syndrome 3 |
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Renal hypoplasia, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Cutaneous syndactyly, Br... |
OMIM:236500 |
Brachydactyly, Type A2 |
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Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Split-Hand/Foot Malformation 3 |
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Split hand, Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Brachydactyly, Polydactyly, Micropenis |
OMIM:615983 |
Tetramelic Monodactyly |
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Split hand, Hand monodactyly, Foot monodactyly, Split foot |
OMIM:187510 |
Brachydactyly Type A7 |
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Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Langer Mesomelic Dysplasia |
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Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Joubert Syndrome 22 |
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Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Cenani-Lenz Syndrome |
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Renal hypoplasia/aplasia, Hypoplasia of the radius, Crossed fused renal ectopia, Synostosis of ca... |
ORPHA:3258 |
Renal Hypoplasia |
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Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Verheij Syndrome |
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Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyly, Hip dislocation |
OMIM:615583 |
Polydactyly, Preaxial Iv |
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1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Syndactyly, Type V |
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Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Tibial Hemimelia |
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Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Acetabular spurs, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brachydactyly, Rhiz... |
OMIM:614376 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Micropenis, Renal agenesis, Hypospadias, Radioulnar synostosis, Renal hypoplasia, Bowing of the l... |
ORPHA:171839 |
Adams-Oliver Syndrome 6 |
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Brachydactyly, Renal hypoplasia, Syndactyly, Foot oligodactyly |
OMIM:616589 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
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Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
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Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Rhizomelia |
OMIM:617661 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, Micropenis, Preaxial polydacty... |
OMIM:618142 |
Heart-Hand Syndrome Type 2 |
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Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromelia, Abnormality o... |
ORPHA:1350 |
Renal Caliceal Diverticuli-Deafness Syndrome |
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Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Heart-Hand Syndrome, Slovenian Type |
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Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
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Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Renal hypoplasia, Ureth... |
OMIM:601389 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Orofaciodigital Syndrome Type 10 |
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Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency, Abnormality of tibia morphology |
ORPHA:2487 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst |
OMIM:615982 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Finger joint hypermobility, Micropenis |
OMIM:244200 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... |
OMIM:602418 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, ... |
OMIM:615993 |
Schizophrenia 1 |
|
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... |
OMIM:181510 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... |
OMIM:201170 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Hypospadias, Brachydactyly, Polydactyly, S... |
OMIM:614091 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Adducted thumb |
OMIM:616603 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral renal agenesi... |
ORPHA:3306 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:3268 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micro... |
OMIM:184260 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Renal agenesis, Overlapping fingers, Renal hypoplasia, Hydronephrosis, Hip dyspl... |
OMIM:618494 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Nager Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the radius, Aplasia/Hypoplasia of the radius, Phocomelia... |
ORPHA:245 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, Hip ... |
OMIM:616362 |
Fraser Syndrome 2 |
|
Aplasia of the bladder, Cutaneous syndactyly, Renal hypoplasia, Renal agenesis |
OMIM:617666 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, 2-3 toe syndactyly |
OMIM:608572 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... |
ORPHA:141152 |
Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Renal hypoplasia, Absent thumb |
OMIM:617784 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... |
ORPHA:521308 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Deviation of finger, Hydronephrosis |
ORPHA:1450 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic aciduria, Rocker bottom foot, ... |
OMIM:604273 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Renal hypoplasia, Absent thumb |
OMIM:276950 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Pec... |
OMIM:607323 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux... |
OMIM:616854 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Radial bowing, Hypercalciuria |
OMIM:617993 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... |
OMIM:102510 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Preaxial hand polydactyly |
OMIM:608406 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney, Abnormality of limb bone morphology |
OMIM:118100 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... |
ORPHA:2302 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Renal hypoplas... |
OMIM:619758 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
Apnea, Central Sleep |
|
Sleep apnea, Irregular respiration, Cyanosis, Abnormal pattern of respiration, Urinary incontinence |
OMIM:207720 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Hypoxemia, Cyanosis, Ureteral stenosis, Tachypnea, Pulmonary hypoplasia, Abnormal ... |
ORPHA:2257 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Small thenar eminence, Brachydactyly, Jo... |
OMIM:618914 |
Jeune Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Nephropathy, Brachydactyly, Micromelia, Postaxial hand p... |
ORPHA:474 |
Braddock Syndrome |
|
Unilateral renal agenesis, Preaxial hand polydactyly |
ORPHA:52047 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb |
OMIM:179250 |
Meckel Syndrome 12 |
|
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Rocker bottom foot |
OMIM:616258 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
2-3 toe syndactyly, Micropenis, Unilateral renal agenesis, 3-4 finger cutaneous syndactyly, Campt... |
OMIM:619951 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Forearm undergrowth, Absent thumb, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopi... |
OMIM:602200 |
Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hand oligodactyly, Unilateral renal agenesis, Hypoplasia of the radius, Cystic rena... |
OMIM:156810 |
Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Renal hypoplasia/aplasia, Abnormality of finger, Renal agenesis, Multi... |
ORPHA:2538 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Short tibia, Abnormality of the hand, Micromelia, Oligo... |
OMIM:251230 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... |
OMIM:249700 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Brachydactyly, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux |
ORPHA:464288 |
Acrofacial Dysostosis 1, Nager Type |
|
Overlapping toe, Short toe, Talipes equinovarus, Absent thumb, Unilateral renal agenesis, Hypopla... |
OMIM:154400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Respirator... |
ORPHA:1046 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Talipes equinovarus, Hand oligodactyly,... |
ORPHA:1788 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Micropenis, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia o... |
OMIM:113000 |
Joubert Syndrome 20 |
|
Renal cyst, Syndactyly, Postaxial polydactyly |
OMIM:614970 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short humerus, Micromelia, Abnormality of th... |
ORPHA:2491 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Spinal dysraphism, Renal hypoplasia, Sandal gap, Macrodactyly |
OMIM:612918 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis |
OMIM:274210 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Pallister-Hall Syndrome |
|
Y-shaped metacarpals, Distal shortening of limbs, Distal urethral duplication, Abnormal lung loba... |
OMIM:146510 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Renal dysplasia, Postaxial hand polydactyly, Renal hypoplasia, Vesicou... |
ORPHA:85284 |
Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bon... |
OMIM:619751 |
Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... |
ORPHA:3138 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Unilateral renal agenesis, Absent middle phalanx of 3rd finge... |
OMIM:308050 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
OMIM:601076 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Split foot, Spina bifida occulta, Hydronephrosis, Split hand, Cutaneous finger ... |
OMIM:183802 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Abnormal renal morphology, Renal hy... |
OMIM:609053 |
Renal Agenesis |
|
Talipes equinovarus, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder... |
ORPHA:411709 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst, Multiple sma... |
OMIM:216360 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... |
OMIM:612447 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, R... |
ORPHA:363444 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... |
OMIM:608571 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Unilater... |
OMIM:101800 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias, Clinodactyly |
OMIM:300934 |
Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... |
ORPHA:2098 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bilateral single trans... |
ORPHA:1972 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Micromelia, Nonopposable triphalangeal thumb |
ORPHA:2252 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... |
ORPHA:166024 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Unilateral renal agenesis, Hyperechogenic kidneys, Proximal tubulopathy, H... |
OMIM:614576 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia |
OMIM:254120 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Radioulnar ... |
OMIM:164900 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Perching Syndrome |
|
Respiratory distress, Camptodactyly |
OMIM:617055 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Congen... |
OMIM:113650 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney |
ORPHA:3109 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly, U... |
OMIM:114150 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Encephalocele, Abnormality of the hand, Aplasi... |
ORPHA:2911 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Radioulnar synostosis, Hammertoe, A... |
ORPHA:2319 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Pelvic kidney, V... |
OMIM:603467 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Hypospadias, Finger clinodactyly |
OMIM:616489 |
Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
Marden-Walker Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Micropenis, Arachnodactyly, Hypospadias, Radi... |
OMIM:248700 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Single transverse palmar crease, Renal insufficiency, Mesomelic arm sho... |
OMIM:113470 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Renal insufficiency |
ORPHA:281090 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Renal hypoplasia |
ORPHA:75389 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst, Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Odontochondrodysplasia |
|
Respiratory distress, Cone-shaped epiphysis, Micromelia, Square pelvis bone, Patent ductus arteri... |
ORPHA:166272 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis |
ORPHA:2768 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... |
ORPHA:370010 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... |
OMIM:228900 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Short metacarpal, Talipes equinovarus, Hypoplasia of the radi... |
OMIM:266910 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... |
ORPHA:380 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, ... |
OMIM:260660 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Urinary incontinence |
OMIM:615284 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Postaxial hand polydact... |
OMIM:308205 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Nephropathy, Hematuria, Micromelia, Aplasia/Hypoplasia of the radius, Proteinuria,... |
ORPHA:1765 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Clinodactyly |
OMIM:610023 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Pneumothorax, Respiratory failure, Interlobular septal thickening, Oxygen desaturation... |
ORPHA:60025 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Talipes equinovarus, Micropenis, Postaxial pol... |
OMIM:613091 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Renal hypoplasia |
OMIM:616817 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Renal agenesis, Foot polydactyly, Postaxial hand polydactyly |
ORPHA:2155 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Hand oligodactyly |
OMIM:276822 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bones, Rocker bottom f... |
ORPHA:95699 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Unilateral renal agenesis, Limb undergrowth, Renal hypoplasia, Ectopic kidney, Clinod... |
OMIM:616541 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Abnormal metacarpal morphology, Triphalangeal thumb, Abnormal distal p... |
ORPHA:2673 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Brachydactyly, Bilateral single transverse palmar creases, Renal insufficien... |
ORPHA:2377 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder, Rec... |
OMIM:614527 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Radioulnar synostosis |
OMIM:302905 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Metaphyseal irregularity, Tibia... |
OMIM:300554 |
Van Maldergem Syndrome 2 |
|
Short clavicles, Talipes equinovarus, Short fourth metatarsal, Micropenis, Hypospadias, Abnormali... |
OMIM:615546 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Narrow pelvis bone, Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Abnormal localization of kidney, Proximal pl... |
ORPHA:1825 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Abnormality of the ureter, Micromelia, Genu valgum, Sandal gap, Umbilical hernia |
ORPHA:1035 |
Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
Charlie M Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly |
ORPHA:1406 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Moebius Syndrome |
|
Respiratory distress, Talipes equinovarus, Micropenis, Brachydactyly, Short phalanx of finger, Sy... |
OMIM:157900 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... |
OMIM:300244 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Unilateral renal agenesis, Hypospadias, Tapered finger, Camptodactyly, Clinodact... |
OMIM:616737 |
Rhyns Syndrome |
|
Chronic kidney disease, Radial bowing, Nephronophthisis, Brachydactyly, Short femoral neck, Renal... |
OMIM:602152 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Proximal tubulopathy, Stage 5 chronic kidney disease, Renal phosphate... |
OMIM:300009 |
Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Renal cyst, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
Urban-Rogers-Meyer Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormality of the ureter, Camptodactyly of ... |
ORPHA:3409 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Short 5th finger, Hypoplasia of the ulna, Single transverse palmar crea... |
OMIM:227270 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Brachyda... |
ORPHA:950 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Hypoplasia of the radius, Small thenar eminence, Short thumb, Renal cyst, Hydroneph... |
OMIM:613390 |
Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney |
OMIM:613680 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Talipes equinovarus, Abnormality of the ureter, Hydroureter, Multicysti... |
ORPHA:2970 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Tapered finger, Ureteropelvic junction obstruction, Renal h... |
OMIM:618975 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... |
ORPHA:2251 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormali... |
ORPHA:2842 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Emphysema |
ORPHA:60 |
Radio-Renal Syndrome |
|
Respiratory distress, Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Hypoplasia of the ra... |
ORPHA:3015 |
Van Maldergem Syndrome 1 |
|
Short clavicles, Talipes equinovarus, Short fourth metatarsal, Hypospadias, Abnormality of the ha... |
OMIM:601390 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of t... |
OMIM:617102 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Hydronephrosis |
OMIM:609757 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis, Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Weaver Syndrome |
|
Talipes equinovarus, Hypoplasia of penis, Camptodactyly of finger, Large hands, Broad thumb, Sand... |
ORPHA:3447 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Short humerus, Enlarged kidney, Hydronephrosis, Hand polydactyly, Proximal plac... |
OMIM:314390 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Hyperechogenic ki... |
OMIM:617866 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... |
ORPHA:3210 |
Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Renal agenesis, Brachydactyly, Renal dysplasia... |
OMIM:277170 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Decreased DLCO, Genu... |
OMIM:618913 |
Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreas... |
ORPHA:747 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Poland Syndrome |
|
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Cornelia De Lange Syndrome 1 |
|
Short sternum, Hypoplasia of the radius, Micromelia, Single transverse palmar crease, Hypoplastic... |
OMIM:122470 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Micropenis, Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, Pos... |
OMIM:264480 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Hypoplastic pelvis, Renal cyst, Renal... |
OMIM:616300 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Abruzzo-Erickson Syndrome |
|
Short toe, Hypospadias, Coronal hypospadias, Brachydactyly, Ulnar deviation of finger, Radioulnar... |
ORPHA:921 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Bifid distal phalanx of toe, Broad palm, Limited elbow extension, Sing... |
OMIM:618419 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Micropenis, Unilateral renal agenesis, Bilateral talipes equinovarus, Renal hypopla... |
OMIM:614083 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
14Q22Q23 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Renal hypoplasia, Sho... |
ORPHA:264200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Absent knee epiphyses, Micropenis, Short femur, Femoral bowing, Hypoplastic ilia, Short humerus, ... |
OMIM:210710 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long... |
ORPHA:1106 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Renal agenesis, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ... |
OMIM:614900 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Talipes equinovarus, Respiratory insufficiency, Camptodactyly of finger, Re... |
OMIM:614399 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Clubbing of fingers, Usual interstitial pneumonia... |
OMIM:178500 |
Bartsocas-Papas Syndrome 1 |
|
Talipes equinovarus, Absent thumb, Micropenis, Syndactyly, Short phalanx of finger, Short thumb, ... |
OMIM:263650 |
Emanuel Syndrome |
|
Renal agenesis, Congenital hip dislocation, Renal hypoplasia, Micropenis |
OMIM:609029 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Short distal phalanx of the thumb, Unilateral renal agenesis, Clinodactyly of the 3rd finger, Con... |
ORPHA:221139 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Mesomelia, Hip dislocation, Fibular aplasia |
OMIM:605274 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of toe, 1-3 toe s... |
OMIM:175700 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short toe, Bowing of the arm, Cystic renal dysplasia, Brachydactyly, Broad pa... |
OMIM:269860 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia, Respiratory distress, Rena... |
OMIM:616733 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Limb undergrowth, Flared elbow metaphyses, Short long bone |
ORPHA:1423 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Elevated pulmonary artery ... |
ORPHA:199241 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Ectopic kidney, Aplasia of the 1st metac... |
OMIM:617247 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Congenital hip dislocation, Renal hypoplasia, Micropenis |
ORPHA:96170 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Clinodactyly of the 5th finger, Renal cyst, Renal hypoplasia, Short foot, Hydronephrosis, Umbilic... |
OMIM:618454 |
Meckel Syndrome 14 |
|
Postaxial polydactyly, Cyanosis, Syndactyly, Postaxial hand polydactyly, Polycystic kidney dyspla... |
OMIM:619879 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency |
OMIM:614922 |
Cerebrofacioarticular Syndrome |
|
Talipes equinovarus, Hypospadias, Syndactyly, Camptodactyly, Caudal appendage, Renal hypoplasia |
ORPHA:314679 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... |
ORPHA:2879 |
Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Hypospadias, Abnormality of the ureter, Nephroblastoma, Syndactyl... |
OMIM:180860 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... |
ORPHA:79126 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Short distal phalanx of finger, Flared iliac wing, Carpal... |
ORPHA:93314 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... |
OMIM:210720 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Tombstone-shaped proximal phalanges, Widened d... |
OMIM:108721 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, 3-4 finger syndactyly, Vesicoureteral reflux, 1-2 toe syndactyly, Partial dupli... |
OMIM:107480 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... |
OMIM:600785 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Genu valgum, Cubitus valgus, Short foot, Madelung deformity, ... |
ORPHA:314795 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Vesicoureteral reflux |
OMIM:606408 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Micropenis, Unilateral renal agenesis, Hypospadias, Arachnodactyl... |
ORPHA:464306 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand |
OMIM:603543 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short ... |
ORPHA:1988 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... |
ORPHA:1505 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveola... |
OMIM:616414 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Renal agenesi... |
ORPHA:508498 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, Micromelia, Sp... |
ORPHA:2145 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, H... |
ORPHA:457284 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Polydactyly, Chro... |
ORPHA:137914 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Otopalatodigital Syndrome, Type Ii |
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Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Scalp-Ear-Nipple Syndrome |
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2-3 toe syndactyly, Renal agenesis, 3-4 finger cutaneous syndactyly, Renal hypoplasia, Renal insu... |
OMIM:181270 |
Isolated Osteopoikilosis |
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Abnormality of femur morphology, Abnormality of the kidney, Abnormality of limb bone, Syndactyly,... |
ORPHA:166119 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Broad distal phalanx of finger,... |
OMIM:619194 |
Acro-Renal-Ocular Syndrome |
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Radial club hand, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Bladder diverticulum, Sho... |
ORPHA:959 |
Urofacial Syndrome 1 |
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Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Malaria |
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Respiratory distress, Acute kidney injury |
ORPHA:673 |
Jackson-Weiss Syndrome |
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2-3 toe syndactyly, Broad hallux, Broad metatarsal, Hallux varus, Short metatarsal, Calcaneonavic... |
OMIM:123150 |
Khan-Khan-Katsanis Syndrome |
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Postaxial polydactyly, Renal hypoplasia, Clinodactyly, Hydronephrosis, Vesicoureteral reflux |
OMIM:618460 |
Neuralgic Amyotrophy |
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Respiratory insufficiency, Acrocyanosis, Scapular winging |
ORPHA:2901 |
Interstitial Lung Disease 1 |
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Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Clubbing, Intralobular septal th... |
OMIM:619611 |
Andersen-Tawil Syndrome |
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Renal tubular dysfunction, 2-3 toe syndactyly, Small hand, Renal hypoplasia, Short foot, Clinodac... |
ORPHA:37553 |
Birt-Hogg-Dubé Syndrome |
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Pneumothorax, Renal cell carcinoma, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
Holzgreve Syndrome |
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Hand polydactyly, Abnormal metacarpal morphology, Renal hypoplasia/aplasia, Abnormal morphology o... |
ORPHA:2167 |
Mucopolysaccharidosis-Plus Syndrome |
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Respiratory distress, Nephrotic syndrome, Recurrent bronchopulmonary infections, Nephritis, Renal... |
OMIM:617303 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria... |
OMIM:231680 |
Verloove Vanhorick-Brubakk Syndrome |
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Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Abnormal local... |
ORPHA:3429 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... |
ORPHA:2547 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Ectrodactyly, Congenital megaureter, Split foot, Abnormality of the urinary sys... |
ORPHA:2437 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria |
ORPHA:26792 |
Sarcoidosis, Susceptibility To, 2 |
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Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Clubbing,... |
OMIM:612387 |
Kinsship Syndrome |
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Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Renal hypoplasia... |
OMIM:619297 |
Grange Syndrome |
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Short palm, Syndactyly |
ORPHA:79094 |
Renal Cysts And Diabetes Syndrome |
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Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... |
OMIM:137920 |
Hypomelanosis Of Ito |
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Hand polydactyly, Syndactyly, Clinodactyly, Radial deviation of finger |
OMIM:300337 |
Papillorenal Syndrome |
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Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Hypoplasia of penis, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Umbilical hernia |
ORPHA:85321 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Nephrolithiasis, Clinodactyly of the 5th finger, Talipes equinovarus, Hydroureter, Hip dysplasia,... |
OMIM:617219 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Short toe, Flexion contracture of finger, Micropenis, Unilateral renal agenesis, Hypospadias, Tap... |
ORPHA:464311 |
Kallmann Syndrome With Spastic Paraplegia |
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Unilateral renal agenesis, Micropenis |
OMIM:308750 |
Klippel-Trenaunay-Weber Syndrome |
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Hand polydactyly, Macrodactyly, Syndactyly, Hand oligodactyly |
OMIM:149000 |
Endove Syndrome, Limb-Brain Type |
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Aplasia of the 3rd finger, Recurrent urinary tract infections, Hydronephrosis, Umbilical hernia, ... |
OMIM:619218 |
Radial Aplasia, X-Linked |
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Penile hypospadias, Absent radius |
OMIM:312190 |
Diaphanospondylodysostosis |
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Respiratory distress, Talipes equinovarus, Nephrogenic rest, Tracheomalacia, Respiratory insuffic... |
OMIM:608022 |
Adenine Phosphoribosyltransferase Deficiency |
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Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Talipes equinovarus, Abnormal pe... |
ORPHA:3404 |
Mesomelic Dysplasia, Kantaputra Type |
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Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Developmental And Epileptic Encephalopathy 30 |
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Respiratory distress, Death in infancy |
OMIM:616341 |
Craniofrontonasal Dysplasia |
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Clinodactyly of the 5th finger, Hypospadias, Broad hallux phalanx, Down-sloping shoulders, Campto... |
ORPHA:1520 |
Pelvis-Shoulder Dysplasia |
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Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Camptodactyly of f... |
ORPHA:2839 |
Pfeiffer Syndrome Type 3 |
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Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Broad thumb... |
ORPHA:93260 |
Monosomy 5P |
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Small hand, Finger syndactyly |
ORPHA:281 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Renal phosphate wasting, Renal tubular dysfunction, Metaphyseal irregularity, Tibial bowing, Bowi... |
OMIM:307800 |
Multiple Osteochondromas |
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Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Urin... |
ORPHA:321 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Renal phosphate wasting, Renal tubular dysfunction, Metaphyseal irregularity, Tibial bowing, Dela... |
OMIM:241530 |
Brain Malformations With Or Without Urinary Tract Defects |
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Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Caudal Regression Syndrome |
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Talipes equinovarus, Abnormal iliac wing morphology, Renal agenesis, Abnormality of the ureter, U... |
ORPHA:3027 |
Thrombocytopenia-Absent Radius Syndrome |
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Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... |
OMIM:274000 |
Rubinstein-Taybi Syndrome 2 |
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Broad hallux, Broad thumb, Syndactyly |
OMIM:613684 |
Chitayat Syndrome |
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Respiratory distress, Tracheomalacia, Brachydactyly, Abnormal pulmonary interstitial morphology, ... |
OMIM:617180 |
Infant Acute Respiratory Distress Syndrome |
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Pulmonary edema, Cyanosis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirat... |
ORPHA:70587 |
Dysmyelination With Jaundice |
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Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
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Syndactyly, Clinodactyly |
OMIM:619091 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Metaphyseal irregularity, Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the h... |
OMIM:208500 |
Postsynaptic Congenital Myasthenic Syndromes |
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Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, Cyanosis, Orthopnea, W... |
ORPHA:98913 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Persistent... |
ORPHA:1112 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromel... |
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