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Summary Literature (0)
DOID:0070119 - Meckel syndrome 5

Disease Ontology Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.

Synonyms: MKS5, Meckel-Gruber syndrome, type 5

In Mondo Disease Ontology:
MONDO:0012695 - Meckel syndrome, type 5

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : rpgrip1l

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Meckel syndrome (is_a)