cranioectodermal dysplasia 1 Disease Ontology Browser

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Disease Ontology Browser

cranioectodermal dysplasia 1 (DOID:0080803)
Alliance: disease page
Alt IDs: OMIM:218330
Definition: A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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