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Bardet-Biedl syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0008854

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. [ PMID:20177705 DOID:0110123 ]

Term info

database cross reference
  • UMLS:C3714980 (OMIM:209900)
  • MESH:C537909 (MONDO:equivalentTo)
  • UMLS:C2673874 (OMIM:209900)
  • UMLS:C2673873 (OMIM:209900)
  • UMLS:C3150127 (OMIM:209900)
  • UMLS:C3806174 (OMIM:209900)
  • UMLS:C1859564 (OMIM:209900)
  • UMLS:C1859569 (OMIM:209900)
  • GARD:0000820 (MONDO:equivalentTo)
  • EFO:0009021 (MONDO:equivalentTo)
  • UMLS:C1859566 (OMIM:209900)
  • UMLS:C1859565 (OMIM:209900)
  • OMIM:209900 (MONDO:equivalentTo)
  • UMLS:C2936862 (MONDO:equivalentTo)
  • UMLS:C1859567 (OMIM:209900)
  • UMLS:C1858054 (OMIM:209900)
  • UMLS:C1859568 (OMIM:209900)
  • DOID:0110123 (MONDO:equivalentTo)
  • UMLS:C1859570 (OMIM:209900)
Subsets

gard_rare

abbreviation
BBS1 [ DOID:0110123 GARD:0000820 OMIM:209900 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.

exactMatch

https://omim.org/entry/209900, http://purl.obolibrary.org/obo/DOID_0110123, http://identifiers.org/mesh/C537909, http://linkedlifedata.com/resource/umls/id/C2936862

has exact synonym

Bardet-Biedl syndrome 1, modifier of, BBS1, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome type 1

id

MONDO:0008854

Term relations

Subclass of: