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Standards Ontologies Notations
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
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
9928 KIF14 kinesin family member 14
23322 RPGRIP1L RPGRIP1 like
57545 CC2D2A coiled-coil and C2 domain containing 2A
79583 TMEM231 transmembrane protein 231
79770 TXNDC15 thioredoxin domain containing 15
91147 TMEM67 transmembrane protein 67
221322 TBC1D32 TBC1 domain family member 32
Displaying all 3 entries
Gene ID Gene Symbol Description Source
69672 Txndc15 thioredoxin domain containing 15
234740 Tmem231 transmembrane protein 231
329795 Tmem67 transmembrane protein 67
Displaying all 2 entries
Gene ID Gene Symbol Description Source
307180 Txndc15 thioredoxin domain containing 15
361410 Tmem231 transmembrane protein 231
Displaying 1 entry
Gene ID Gene Symbol Description Source
393358 tmem231 transmembrane protein 231
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
779219 txndc15.L thioredoxin domain containing 15 L homeolog Xenopus laevis (African clawed frog)
100145127 tmem231 transmembrane protein 231 Xenopus tropicalis (tropical clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024