About   Help   FAQ
Disease Ontology Browser
Meckel syndrome (DOID:0050778)
Alliance: disease page
Synonyms: Meckel-Gruber syndrome
Alt IDs: ICD9CM:753.1, ICD9CM:753.10, OMIM:PS249000, ORDO:564, UMLS_CUI:C0311245
Definition: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Disease References using Mouse Models (13)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory