| 疾病名称 |
别名 |
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| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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| Joubert Syndrome 31 |
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| Joubert Syndrome 3 |
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JBTS3
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Joubert Syndrome With Ocular Defect
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Joubert Syndrome With Ocular Anomalies
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Js-O
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Joubert Syndrome With Retinopathy
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Joubert Syndrome-3
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Joubert Syndrome, Type 3
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| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Asphyxiating Thoracic Dystrophy 1
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Jeune Syndrome
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SRTD1
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Atd1
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Jatd
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Jeune Asphyxiating Thoracic Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Atd
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Asphyxiating Thoracic Dystrophy
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune'S Syndrome
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Thoracic Pelvic Phalangeal Dystrophy
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Jeune Thoracic Dystrophy
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| Joubert Syndrome 1 |
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Joubert Syndrome
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Jbts
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Cerebellooculorenal Syndrome 1
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JBTS1
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Joubert-Boltshauser Syndrome
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Cerebelloparenchymal Disorder Iv
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Cpd4
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Cors1
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Joubert Syndrome And Related Disorders
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Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
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Js
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Cerebellar Vermis Agenesis
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
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Cerebello-Oculo-Renal Syndrome
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Cors
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Joubert-Bolthauser Syndrome
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Cpd Iv
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Classic Joubert Syndrome
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Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
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Joubert Syndrome-1
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Joubert Syndrome, Type 1
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Joubert'S Syndrome
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| Asphyxiating Thoracic Dystrophy |
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Jeune Thoracic Dystrophy
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Jeune Syndrome
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Asphyxiating Thoracic Dysplasia
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Short-Rib Thoracic Dysplasia With Or Without Polydactyly
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Thoracic Pelvic Phalangeal Dystrophy
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Asphyxiating Thoracic Chondrodystrophy
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Atd
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune Thoracic Dysplasia
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Thoracic Asphyxiant Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Short-Rib Thoracic Dysplasia Without Polydactyly
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Asphyxiating Thorax Dystrophy
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| Brugada Syndrome 9 |
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BRGDA9
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Brugada Syndrome, Type 9
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| Ellis-Van Creveld Syndrome |
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Chondroectodermal Dysplasia
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Mesoectodermal Dysplasia
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EVC
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Ellis Van Creveld Syndrome
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Mesodermic Dysplasia
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Ellis-Van Creveld Dysplasia
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| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Asphyxiating Thoracic Dystrophy 3
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Saldino-Noonan Syndrome
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SRTD3
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Atd3
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Srps1
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Srps3
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Verma-Naumoff Syndrome
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Srps2b
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Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
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Short Rib-Polydactyly Syndrome, Type I
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Polydactyly With Neonatal Chondrodystrophy, Type I
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Polydactyly With Neonatal Chondrodystrophy, Type Iii
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Short Rib-Polydactyly Syndrome, Type Iib
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Short Rib-Polydactyly Syndrome Type 3
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Polydactyly With Neonatal Chondrodystrophy Type Iii
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Short Rib-Polydactyly Syndrome Type Iii
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Short Rib-Polydactyly Syndrome Type 1
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Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
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Majewski Syndrome
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Short Rib-Polydactyly Syndrome, Type Iii
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Type I Short Rib Polydactyly Syndrome
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Srps Type 3
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Short Rib Polydactyly Syndrome Verma Naumoff Type
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Verma Naumoff Syndrome
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Polydactyly With Neonatal Chondrodystrophy Type 1
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Srps Type 1
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Short Rib-Polydactyly Syndrome Saldino-Noonan Type
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Jatd
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Jeune Asphyxiating Thoracic Dystrophy
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Jeune Syndrome 3
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Polydactyly With Neonatal Chondrodystrophy Type I
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Short Rib-Polydactyly Syndrome Type I
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Short Rib-Polydactyly Syndrome Type Iib
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Srps Type Iib
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Srps Type Iii
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| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Majewski Syndrome
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SRTD6
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Srps2a
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Short Rib-Polydactyly Syndrome, Majewski Type
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Polydactyly With Neonatal Chondrodystrophy, Type Ii
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Short Rib-Polydactyly Syndrome Type Iia
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Short Rib-Polydactyly Syndrome Type 2
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Short Rib-Polydactyly Syndrome Type Ii
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Short Rib-Polydactyly Syndrome, Type Ii
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Srps, Type Ii
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Short Rib-Polydactyly Syndrome, Type Iia
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Polydactyly With Neonatal Chondrodystrophy Type 2
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Srps Type 2
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Short Rib-Polydactyly Syndrome Majewski Type
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Polydactyly With Neonatal Chondrodystrophy Type Ii
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Short Rib-Polydactyly Syndrome 2a
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Srps Type Ii
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| Cleft Lip/Palate |
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Cleft Lip And Palate
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Alveolar Cleft Lip And Palate
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Cleft Lip-Alveolus-Palate Syndrome
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Flp
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| Polydactyly |
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Non-Syndromic Polydactyly
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Polydactyly, Postaxial
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Postaxial Polydactyly
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Supernumerary Digit
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Extra Digits
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Hyperdactyly
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Polydactylia
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Polydactylism
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Supernumerary Digits
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| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Conorenal Syndrome
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Saldino-Mainzer Syndrome
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SRTD9
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Mainzer-Saldino Syndrome
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Mzsds
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Mainzer-Saldino Disease
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Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
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Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia
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Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy
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Mainzer Saldino Syndrome
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Conorenal Dysplasia
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Mainzer-Saldino Chondrodysplasia
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Saldino-Mainzer Dysplasia
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Short-Rib Thoracic Dysplasia 9
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Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome
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Mss
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Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia
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| Cranioectodermal Dysplasia |
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Sensenbrenner Syndrome
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Levin Syndrome 1
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Ced
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Levin Syndrome
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Dysplasia, Cranioectodermal
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| Meckel Syndrome, Type 1 |
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Meckel-Gruber Syndrome
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Meckel Syndrome
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Dysencephalia Splanchnocystica
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Meckel Syndrome 1
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MKS1
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Mks
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Gruber Syndrome
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Meckel-Gruber Syndrome, Type 1
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Mes
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Dysencephalia Splachnocystica
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Meckel Gruber Syndrome
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Meckel Syndrome Type 1
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| Lipoid Proteinosis Of Urbach And Wiethe |
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Lipoid Proteinosis
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Urbach-Wiethe Disease
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Hyalinosis Cutis Et Mucosae
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Lipid Proteinosis
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Lipoproteinosis
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Urbach Wiethe Disease
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Lipoglycoproteinosis
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Lipoidosis Cutis Et Mucosae
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Lipoidproteinosis
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Urbach-Wiethe Lipoid Proteinosis
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Urbach-Wiethe Syndrome
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LIP
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Proteinosis Lipoid
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| Chromosome 2q35 Duplication Syndrome |
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Syndactyly
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Syndactyly Type 1
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Sdty1
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Zygodactyly
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Syndactyly, Type I
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Sd1
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Syndactyly, Type 1, With Or Without Craniosynostosis
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Symphalangism
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Non-Syndromic Syndactyly
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Symphalangy
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Webbing Of Digits
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Syndactyly, Type 1
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| Primary Microcephaly |
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True Microcephaly
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Microcephaly, Primary
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| Short-Rib Thoracic Dysplasia 12 |
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Beemer-Langer Syndrome
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Type Iv Short Rib Polydactyly Syndrome
|
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Short Rib-Polydactyly Syndrome Type 4
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Short Rib-Polydactyly Syndrome, Beemer Type
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SRTD12
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Short Rib-Polydactyly Syndrome, Type Iv
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Srps4
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Srps Iv
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Short Rib Syndrome, Beemer Type
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Beemer Langer Syndrome
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Srps Type 4
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Short Rib Polydactyly Syndrome Beemer-Langer Type
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Short Rib-Polydactyly Syndrome Beemer Type
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Short Rib-Polydactyly Syndrome Type Iv
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Short Rib-Polydactyly Syndrome, Beemer-Langer Type
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| Primary Autosomal Recessive Microcephaly |
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Autosomal Recessive Primary Microcephaly
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Mcph
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True Microcephaly
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Microcephalia Vera
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Microcephaly Vera
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Microcephaly Primary Hereditary
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Microcephaly, Primary, Autosomal Recessive
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Primary Microcephaly
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| Orofaciodigital Syndrome Vi |
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OFD6
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Varadi-Papp Syndrome
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Varadi Syndrome
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Joubert Syndrome With Orofaciodigital Defect
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Orofaciodigital Syndrome Type 6
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Orofaciodigital Syndrome 6
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Oral-Facial-Digital Syndrome, Type Vi
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Ofds Vi
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Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
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Polydactyly Cleft Lip Palate Psychomotor Retardation
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Oral-Facial-Digital Syndrome Type 6
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Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
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Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
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Váradi Syndrome
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Váradi-Papp Syndrome
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Joubert Syndrome With Oral-Facial-Digital Syndrome
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Oral-Facial-Digital Syndrome 6
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Joubert-Orofaciodigital Syndrome
|
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Orofaciodigital Syndrome, Type Vi
|
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| Coffin-Siris Syndrome 1 |
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Coffin-Siris Syndrome
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Fifth Digit Syndrome
|
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Css
|
CSS1
|
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Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
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Hhid
|
Dwarfism-Onychodysplasia
|
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Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
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Autosomal Dominant Mental Retardation 12
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Short Stature-Onychodysplasia.
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Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
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Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
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Short Stature-Onychodysplasia
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Coffin-Siris Syndrome, Type 1
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Mental Retardation, Autosomal Dominant, Type 12
|
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| Nephronophthisis |
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Medullary Cystic Disease
|
Medullary Cystic Kidney
|
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Nph
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Nphp
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Kidney Disease, Cystic, Medullary
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
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| Fundus Dystrophy |
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Retinal Dystrophy
|
Retinal Dystrophies
|
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Dystrophy, Retinal
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