OBO ID: DOID:0080802 |
Term Name: | autosomal recessive craniometaphyseal dysplasia | Search Ontology: | |
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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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Ontology: | Human Disease ( DOID:0080802 ) |
OTHER autosomal recessive craniometaphyseal dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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