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Disease Ontology Browser
Meckel syndrome 4 (DOID:0070118)
Alliance: disease page
Synonyms: Meckel-Gruber syndrome, type 4; MKS4
Alt IDs: OMIM:611134, ICD10CM:Q61.9
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory