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Summary Literature (0)
DOID:0070118 - Meckel syndrome 4

Disease Ontology Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.

Synonyms: Meckel-Gruber syndrome, type 4, MKS4

Xenbase Genes : cep290

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012626 - Meckel syndrome, type 4


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Meckel syndrome (is_a)