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DeCS
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Descriptor Inglés:
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Campomelic Dysplasia
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Descriptor Español:
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Displasia Campomélica
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Descriptor Portugués:
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Displasia Campomélica
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Sinónimos Inglés:
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Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasias
Campomelic Dwarfism
Campomelic Dwarfisms
Campomelic Dysplasia, Acampomelic
Campomelic Dysplasias
Campomelic Dysplasias, Acampomelic
Campomelic Syndrome
Campomelic Syndromes
Camptomelic Dysplasia
Camptomelic Dysplasias
Cmpd1 Sra1
Cmpd1 Sra1s
Dwarfism, Campomelic
Dwarfisms, Campomelic
Dysplasia, Acampomelic Campomelic
Dysplasia, Campomelic
Dysplasia, Camptomelic
Dysplasias, Acampomelic Campomelic
Dysplasias, Campomelic
Dysplasias, Camptomelic
Sra1, Cmpd1
Sra1s, Cmpd1
Syndrome, Campomelic
Syndromes, Campomelic
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Categoría:
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C05.660.142
C16.131.621.142
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Definición Inglés:
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A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. |
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Relacionados Inglés:
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Pierre Robin Syndrome
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Nota Histórica Inglés:
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2009
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Calificadores Permitidos Inglés:
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Número del Registro:
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53074
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Identificador Único:
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D055036
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Ocurrencia en la BVS:
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Similar:
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DeCS
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