OBO ID: DOID:0080803
Term Name: cranioectodermal dysplasia 1 Search Ontology:
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)
OTHER cranioectodermal dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT122 Cranioectodermal dysplasia 1 218330
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None