Search Ontology:
Human Disease
autosomal recessive craniometaphyseal dysplasia
- Term ID
- DOID:0080802
- Synonyms
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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/
- References
- Ontology
- Human Disease ( DOID:0080802 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models