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MIRAGE
Meckel syndrome

Summary
Synonym
  • Meckel-Gruber syndrome
Definition
A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Super Class
ciliopathy
Disease Ontology
DOID:0050778
Mondo Disease Ontology
UMLS
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
9928 KIF14 kinesin family member 14
79583 TMEM231 transmembrane protein 231
79770 TXNDC15 thioredoxin domain containing 15
Displaying 1 entry
Gene ID Gene Symbol Description Source
329795 Tmem67 transmembrane protein 67
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8BR76 Meckelin
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025