Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080803 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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