cranioectodermal dysplasia 3

Term ID

DOID:0080805

Synonyms

Definition

A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. https://pubmed.ncbi.nlm.nih.gov/21378380/

References

• OMIM:614099

Ontology

Human Disease   ( DOID:0080805 )