Metadata | |
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ID | DOID:0080802 |
Name | autosomal recessive craniometaphyseal dysplasia |
Definition | A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. https://pubmed.ncbi.nlm.nih.gov/9382103/ |
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