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Metadata
ID DOID:0050778
Name Meckel syndrome
Definition A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
http://en.wikipedia.org/wiki/Meckel_syndrome, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract
Xrefs

GARD:3436

ICD9CM:753.1

OMIM:PS249000

ORDO:564

SNOMEDCT_US_2020_03_01:204954005

UMLS_CUI:C0311245

Subsets

DO_rare_slim

Synonyms

Meckel-Gruber syndrome [EXACT]

Parent Relationships

is_a ciliopathy

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