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Concept information

disease > congenital disease > malformation > craniometaphyseal dysplasia
disease > dysplasia > bone dysplasia > craniometaphyseal dysplasia
disease > genetic disease > hereditary disease > craniometaphyseal dysplasia

Término preferido

craniometaphyseal dysplasia  

Definición

  • Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-W9GR1T8Z-Q

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