Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080802 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models