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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

External Links

Disease Ontology

DOID:0050778

Mondo Disease Ontology

MONDO:0018921

UMLS

C0311245

ORDO

564

OMIM

PS249000

GARD

3436

MGI genotype (from TogoID)

WikiPathways (from TogoID)

Related Genes

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
69672	Txndc15	thioredoxin domain containing 15	Alliance of Genome Resources
234740	Tmem231	transmembrane protein 231	Alliance of Genome Resources
329795	Tmem67	transmembrane protein 67	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
307180	Txndc15	thioredoxin domain containing 15	Alliance of Genome Resources
361410	Tmem231	transmembrane protein 231	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
393358	tmem231	transmembrane protein 231	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
779219	txndc15.L	thioredoxin domain containing 15 L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)
100145127	tmem231	transmembrane protein 231	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)