autosomal recessive craniometaphyseal dysplasia

Term ID

DOID:0080802

Synonyms

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/

References

• OMIM:218400

Ontology

Human Disease   ( DOID:0080802 )