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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 the RPGRIP1L gene on chromosome 16q12.2.

Synonyms: Meckel-Gruber syndrome, type 5, MKS5

Xenbase Genes : rpgrip1l

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012695 - Meckel syndrome, type 5

MIM:
MIM:611561 - MECKEL SYNDROME, TYPE 5; MKS5

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)