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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| 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 |
