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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:0018921 - Meckel syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
ciliopathy (is_a)