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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


In Mondo Disease Ontology:
MONDO:0018921 - Meckel syndrome

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

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

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