FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bardet-Biedl syndrome ID (Ontology) DOID:1935 (Human Disease)
Definition A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
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DO.org
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes
 Bardet-Biedl syndrome       4      1
 model of | Bardet-Biedl syndrome       4       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Bardet-Biedl syndrome  20 rec.
                                  |__Bardet-Biedl syndrome 1 4 rec.
                                  |__Bardet-Biedl syndrome 2
                                  |__Bardet-Biedl syndrome 3 2 rec.
                                  |__Bardet-Biedl syndrome 4 1 rec.
                                  |__Bardet-Biedl syndrome 5 1 rec.
                                  |__Bardet-Biedl syndrome 6
                                  |__Bardet-Biedl syndrome 7
                                  |__Bardet-Biedl syndrome 8 1 rec.
                                  |__Bardet-Biedl syndrome 9 1 rec.
                                  |__Bardet-Biedl syndrome 10
                                  |__Bardet-Biedl syndrome 11
                                  |__Bardet-Biedl syndrome 12
                                  |__Bardet-Biedl syndrome 13 1 rec.
                                  |__Bardet-Biedl syndrome 14 2 rec.
                                  |__Bardet-Biedl syndrome 15 1 rec.
                                  |__Bardet-Biedl syndrome 16 1 rec.
                                  |__Bardet-Biedl syndrome 17
                                  |__Bardet-Biedl syndrome 18 1 rec.
                                  |__Bardet-Biedl syndrome 19
                                  |__Bardet-Biedl syndrome 20 1 rec.
                                  |__Bardet-Biedl syndrome 21
                                  |__Bardet-Biedl syndrome 22
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Is a autosomal recessive disease
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GARD:6866
ICD10CM:Q87.89
MESH:D020788
MIM:PS209900
NCI:C118632
ORDO:110
SNOMEDCT_US_2023_03_01:5619004
UMLS_CUI:C0752166