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DOID:0070119 - Meckel syndrome 5
Disease Ontology Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
Synonyms: MKS5, Meckel-Gruber syndrome, type 5,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Meckel syndrome (is_a)