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Bardet-Biedl syndrome 4

^ http://www.ebi.ac.uk/efo/EFO_0009024


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Term info

database cross reference
  • OMIM:615982 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • Orphanet:118985 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren

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