| Term Name: | autosomal recessive craniometaphyseal dysplasia |
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| Synonyms: | |
| Definition: | A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. |
| Ontology: | Human Disease [DOID:0080802] ( DOID:0080802 ) |