OBO ID: DOID:0080802
Term Name: autosomal recessive craniometaphyseal dysplasia Search Ontology:
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)
OTHER autosomal recessive craniometaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJA1 Craniometaphyseal dysplasia, autosomal recessive 218400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None