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Bardet-Biedl syndrome 1

^ http://www.ebi.ac.uk/efo/EFO_0009021


Bardet-Biedl syndrome 1 is caused by mutation in a gene on chromosome 11q13. [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Term info

database cross reference
  • OMIM:209900 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • Orphanet:118975 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren

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