OBO ID: DOID:0050778
Term Name: Meckel syndrome Search Ontology:
Synonyms:
  • Meckel-Gruber syndrome
Definition: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (2)
References:
  • GARD:3436
  • ICD9CM:753.1
  • OMIM:PS249000
  • ORDO:564
  • SNOMEDCT_US_2021_09_01:204954005
  • UMLS_CUI:C0311245
Ontology: Human Disease   (DOID:0050778)
OTHER Meckel syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
WT + MO1-flncb + MO1-tmem67 standard conditions Adams et al., 2012
PHENOTYPE No data available

CITATIONS (5)