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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
cranioectodermal dysplasia 1  
A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. (DO)
cranioectodermal dysplasia 2  
cranioectodermal dysplasia 3  
cranioectodermal dysplasia 4  

Synonyms
Exact Synonyms: CED1 ;   Levin syndrome I
Primary IDs: MIM:218330
Definition Sources: PMID:517478 "DO" "DO"

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