cranioectodermal dysplasia 1

Term ID

DOID:0080803

Synonyms

Definition

A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/517478/

References

• OMIM:218330

Ontology

Human Disease   ( DOID:0080803 )