PedAM
Pediatric Disease Annotations & Medicines
| Disease | ciliopathy |
| Phenotype | C0752166|bardet-biedl syndrome |
| Sentences | 1 |
| PubMedID- 26275418 | Those four components are ift80, ift88, ift172 and very recently ift27.3–6 defects in any of them result in short rib-polydactyly syndromes, jeune asphyxiating thoracic dystrophy, mainzer-saldino syndrome, or a reno-oculo-hepatic ciliopathy with polydactyly (bardet-biedl syndrome, mim 209900), in the case of ift27. |
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