| 疾病名称 |
别名 |
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| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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| Cranioectodermal Dysplasia 3 |
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CED3
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Sensenbrenner Syndrome 3
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Dysplasia, Cranioectodermal, Type 3
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| Retinitis Pigmentosa 81 |
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RP81
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Retinitis Pigmentosa, Type 81
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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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| Short Rib-Polydactyly Syndrome |
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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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| 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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| 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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| 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 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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| Weyers Acrofacial Dysostosis |
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Curry-Hall Syndrome
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Weyers Acrodental Dysostosis
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WAD
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Acrodental Dysostosis Of Weyers
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Acrofacial Dysostosis, Weyers Type
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Acrofacial Dysostosis Of Weyers
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Curry Hall Syndrome
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| Nephronophthisis |
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Medullary Cystic Disease
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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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| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Asphyxiating Thoracic Dystrophy 5
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SRTD5
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Atd5
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Jatd
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Jeune Asphyxiating Thoracic Dystrophy
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Jeune Syndrome 5
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| Brachydactyly |
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| Craniosynostosis |
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Premature Closure Of Cranial Sutures
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Craniostenosis
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Craniosynostosis Syndrome
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Cso
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Craniosynostoses
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Congenital Ossification Of Cranial Sutures
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Congenital Ossification Of Sutures Of Skull
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Craniostosis
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Imperfect Fusion Of Skull
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Congenital Imperfect Closure Skull
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Imperfect Closure Skull
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Premature Closure Cranium Sutures
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Deficiency Of Craniofacial Axis
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| Joubert Syndrome 17 |
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JBTS17
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Joubert Syndrome, Type 17
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| Filarial Elephantiasis |
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Lymphatic Filariasis
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Elephantiasis
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Filariasis
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Bancroftian Elephantiasis
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Bancroftian Filarial Chyluria
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Elephantiasis Of Eyelid
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Bancroftian Filariasis
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Elephantitis
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Malayi Tropical Eosinphilia
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Wuchereria Bancrofti Infection
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Wuchereriasis
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Elephantiasis, Filarial
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Filarial Elephantiases
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Infection By Wuchereria Bancrofti
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Filarial Lymphangitis
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Tropical Elephantiasis
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Filarial Chylocele
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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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| Bardet-Biedl Syndrome |
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Bbs
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Biedl-Bardet Syndrome
|
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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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| Acrofacial Dysostosis |
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| Retinal Degeneration |
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| Cardiomyopathy, Familial Hypertrophic, 1 |
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Asymmetric Septal Hypertrophy
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Familial Hypertrophic Cardiomyopathy
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Hypertrophic Cardiomyopathy 1
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CMH1
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Hypertrophic Cardiomyopathy 19
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CMH
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Ventricular Hypertrophy, Hereditary
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Ash
|
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Hypertrophic Subaortic Stenosis, Idiopathic
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Cardiomyopathy, Familial Hypertrophic
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Cardiomyopathy, Hypertrophic, 1, Digenic
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Cardiomyopathy, Familial Hypertrophic 1
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Hcm
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Hereditary Ventricular Hypertrophy
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Idiopathic Hypertrophic Subaortic Stenosis
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Hypertrophic Cardiomyopathy
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Cardiomyopathy, Hypertrophic, Familial
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Cardiomyopathy, Hypertrophic, 1
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Familial Asymmetric Septal Hypertrophy
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Heritable Hypertrophic Cardiomyopathy
|
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Fhc
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Cardiomyopathy, Hypertrophic, Familial, Type 1
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|
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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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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
|
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
|
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
|
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
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SRTD1
|
Atd1
|
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Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
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Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
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Atd
|
Asphyxiating Thoracic Dystrophy
|
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Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
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Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
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Jeune Thoracic Dystrophy
|
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| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
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Cerebellooculorenal Syndrome 1
|
JBTS1
|
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Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
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Cpd4
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Cors1
|
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Joubert Syndrome And Related Disorders
|
Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
|
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Js
|
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
|
Cors
|
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Joubert-Bolthauser Syndrome
|
Cpd Iv
|
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Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
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Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
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Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
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Joubert'S Syndrome
|
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| Primary Ciliary Dyskinesia |
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Immotile Cilia Syndrome
|
Kartagener Syndrome
|
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Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
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Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
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Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
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Ics
|
Polynesian Bronchiectasis
|
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Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
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Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
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Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
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| Fundus Dystrophy |
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Retinal Dystrophy
|
Retinal Dystrophies
|
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Dystrophy, Retinal
|
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