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Meckel Syndrome

Disease ID: disease_node_14683

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DbxrefGARD:3436, ICD9CM:753.1, MIM:PS249000, ORDO:564, SNOMEDCT_US_2023_03_01:204954005, UMLS_CUI:C0311245
SubclassofDOID_0060340
Data SourceDOID
SynonymsMeckel-Gruber syndrome
Doid LabelMeckel syndrome
Doid DescriptionA ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. Xref MGI.
Disease Node Iddisease_node_14683
Doid IdDOID_0050778
LabelMeckel Syndrome