PedAM
Pediatric Disease Annotations & Medicines
| Disease | congenital hepatic fibrosis |
| Phenotype | C0431399|joubert syndrome |
| Sentences | 3 |
| PubMedID- 23351659 | Bb: basal body; bbs: bardet–biedl syndrome; cep290: centrosomal protein 290 kda; cko: conditional knockout; coach: joubert syndrome with congenital hepatic fibrosis; ift: intraflagellar transport; jbts: joubert syndrome; lca: leber congenital amaurosis; nphp: nephronophthisis; rpgr: retinitis pigmentosa g-protein regulator; slsn: senior–løken syndrome. |
| PubMedID- 19574260 | Mutations in 3 genes (mks3, cc2d2a and rpgrip1l) cause coach syndrome (joubert syndrome with congenital hepatic fibrosis). |
| PubMedID- 26075130 | Coach syndrome (omim 21630) is considered by some to be a subtype of joubert syndrome with congenital hepatic fibrosis. |
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