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Summary Literature (2)
DOID:0050778 - Meckel syndrome


Disease Ontology Definition:A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Synonyms: Meckel-Gruber syndrome

Xenbase Genes : nphp3, b9d1, tmem67, b9d2, tmem231, tctn2, mks1, cep290, cspp1, rpgrip1l, cc2d2a, tmem216, tmem107, cep55

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018921 - Meckel syndrome


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

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