| 疾病名称 |
别名 |
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| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
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Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
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SHFM1D
|
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Deafness, Congenital, With Split Hands And Feet
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Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
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Congenital Deafness With Split Hands And Feet
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Split Hand-Split Foot-Deafness Syndrome
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Split Hand-Split Foot-Hearing Loss Syndrome
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Congenital Deafness And Split Hands And Feet
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Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss
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Split-Hand-Foot Malformation With Sensorineural Hearing Loss
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| Split-Hand/Foot Malformation 1 |
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Ectrodactyly
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Split Hand-Foot Malformation 1
|
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SHFM1
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Shfd1
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Split-Hand Deformity
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Split-Hand/Foot Malformation 1 With Or Without Deafness
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Split-Hand/Foot Deformity 1
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Ecd
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Split Hand/Foot Malformation Type 1
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Split Hand Foot Deformity 1
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Split-Hand/Foot Malformation
|
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| Isolated Split Hand-Split Foot Malformation |
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Ectrodactyly
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Shfm
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Split Hand Foot Malformation
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Split-Hand/Foot Malformation
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Split Hand Foot Deformity 1
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Split Hand Foot Deformity
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| Split Hand-Foot Malformation |
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Ectrodactyly
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Split-Hand/Foot Malformation
|
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Lobster-Claw Deformity
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Split-Hand Deformity
|
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Split Hand Foot Malformation
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Shfm
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Split Hand Foot Deformity
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Split Hand Foot Deformity 1
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| Rett Syndrome |
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Atypical Rett Syndrome
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RTT
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Rett Disorder
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Rts
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
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Rett Syndrome, Preserved Speech Variant
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Rett Syndrome, Atypical
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Rett'S Disorder
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Rett Syndrome Variant
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Rett'S Syndrome
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Atypical Rtt
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
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| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3
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EEC3
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Eec Syndrome 3
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3
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| Split-Hand/Foot Malformation 4 |
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SHFM4
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Split Hand-Foot Malformation 4
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Split-Hand/Foot Malformation, Type 4
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| Trichodentoosseous Syndrome |
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Tricho-Dento-Osseous Syndrome
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Tdo Syndrome
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Trichodontoosseous Syndrome
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TDO
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Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
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| Split-Hand/Foot Malformation 3 |
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SHFM3
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Split Hand-Foot Malformation 3
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Chromosome 10q24 Duplication Syndrome
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Shsf3
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Limb Deficiencies, Distal, With Micrognathia
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Split-Hand/Foot Malformation 3, Gene Duplication Syndrome
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Distal Limb Deficiencies With Micrognathia
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Limb Deficiencies Distal With Micrognathia
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Buttiens Fryns Syndrome
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Distal Limb Deficiencies-Micrognathia Syndrome
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10q24 Microduplication Syndrome
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Buttiens-Fryns Syndrome
|
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Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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| Split-Hand/Foot Malformation 6 |
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Split Hand-Foot Malformation 6
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SHFM6
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Ectrodactyly, Autosomal Recessive
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Ectrodactyly Autosomal Recessive
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Split-Hand/Foot Malformation, Type 6
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| Angelman Syndrome |
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AS
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Happy Puppet Syndrome
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Happy Puppet Syndrome, Formerly
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Puppetlike Syndrome
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| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Hay-Wells Syndrome
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Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
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Aec Syndrome
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AEC
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Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome
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Seres-Santamaria Arimany Muniz Syndrome
|
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Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects
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Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
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Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate
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Rapp-Hodgkin Syndrome
|
|
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| Fibrosarcomatous Osteosarcoma |
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Fibroblastic Osteosarcoma
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Fibrosarcomatous Osteogenic Sarcoma
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| Syngnathia |
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Cleft Palate-Lateral Synechia Syndrome
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Cpls Syndrome
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Cleft Palate Lateral Synechia Syndrome
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| Cleft Palate, Isolated |
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Cleft Palate
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Isolated Cleft Palate
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CPI
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Cp
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Palatoschisis
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Cleft Palate Isolated
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Uranostaphyloschisis
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Congenital Fissure Of Palate
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Cleft Of Secondary Palate
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| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Eec Syndrome
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Rudiger Syndrome 1
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
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EEC1
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Eec Syndrome 1
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Eec Syndrome-1
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Walker-Clodius Syndrome
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Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
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Eec
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
|
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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
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Ectrodactyly-Cleft Lip/Palate Syndrome
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Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate
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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
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Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
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Ectrodactyly-Cleft Lip-Palate Syndrome
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
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| Cleidocranial Dysplasia |
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Cleidocranial Dysostosis
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CLCD
|
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Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
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Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
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CCD
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Marie-Sainton Disease
|
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Dysplasia Cleidocranial
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Dento-Osseous Dysplasia
|
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Marie-Sainton Syndrome
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Dysplasia, Cleidocranial
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|
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| Agnathia-Otocephaly Complex |
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Otocephaly
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Holoprosencephaly-Agnathia
|
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Dysgnathia Complex Agnathia-Holoprosencephaly
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AGOTC
|
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Agnathia-Holoprosencephaly-Situs Inversus Syndrome
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Dysgnathia Complex
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Agnathia-Holoprosencephaly
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Cervical Auricle
|
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| Orofacial Cleft |
|
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| Parietal Foramina |
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Enlarged Parietal Foramina
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Hereditary Cranium Bifidum
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Symmetric Parietal Foramina
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Catlin Marks
|
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Foramina Parietalia Permagna
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Caitlin Marks
|
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Cranium Bifidum
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Cranium Bifidum Occultum
|
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Fenestrae Parietals Symmetricae
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Fpp
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Giant Parietal Foramina
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Pfm
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Fenestrae Parietales Symmetricae
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Foramina, Parietal
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| Branchiootic Syndrome |
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Bo Syndrome
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Branchiootic Dysplasia
|
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Bor
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Bo Syndrome 1
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Bos1
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Branchiootic Syndrome 1
|
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| Rapp-Hodgkin Syndrome |
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RHS
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Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
|
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Ectodermal Dysplasia, Rapp-Hodgkin Type
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Rapp-Hodgkin Ectodermal Dysplasia Syndrome
|
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Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate
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Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
|
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Edrh
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Rapp-Hodgkin Ectodermal Dysplasia
|
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Orofacial Cleft 8
|
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| Bone Development Disease |
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| Tooth Agenesis |
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Oligodontia
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Hypodontia
|
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Selective Tooth Agenesis
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Tooth Agenesis, Selective
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Familial Tooth Agenesis
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Anodontia
|
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Congenital Absence Of One Tooth
|
|
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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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| 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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| Osteochondrodysplasia |
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Skeletal Dysplasia
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Chondrodystrophy
|
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Congenital Anomaly Of Cartilage
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Osteochondrodysplasias
|
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Cartilage Development Disorder
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Osteochondrodysplasia Syndrome
|
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Dysplasia, Skeletal
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Mucopolysaccharidosis Iv
|
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| Brittle Bone Disorder |
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Osteogenesis Imperfecta
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Brittle Bone Disease
|
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Fragilitas Ossium
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Osteopsathyrosis
|
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Lobstein Disease
|
Oi
|
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Vrolik Disease
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Lobstein'S Disease
|
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Lobstein'S Syndrome
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Vrolik'S Disease
|
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Porak And Durante Disease
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Glass Bone Disease
|
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Osteogenesis Imperfecta, Dominant Perinatal Lethal
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Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
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Brittle Bone Syndrome
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Oi - [Osteogenesis Imperfecta]
|
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Ossium Fragility
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Osteitis Fragilitans
|
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Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
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White Blue Sclera - Fragility Of Bone - Deafness
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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