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Metadata
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/
Xrefs

OMIM:218400

Parent Relationships

is_a craniometaphyseal dysplasia

is_a autosomal recessive disease

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