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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/209900
http://purl.bioontology.org/ontology/OMIM/209900
|
|---|---|
| Preferred Name | BARDET-BIEDL SYNDROME 1 |
| Synonyms |
BBS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BBS1
|
|---|---|
| prefLabel | BARDET-BIEDL SYNDROME 1
|
| Gene Symbol |
MGC1203
CCDC28B
|
| notation | 209900
|
| Scope Statement | Caused by mutation in the BBS1 gene (BBS1, 209901.0001) [MOLECULAR BASIS]
Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance [MISCELLANEOUS]
Presence of 4 major features or 3 major and 2 minor features establishes the diagnosis [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1p35.1
|
| tui | T047
|
| cui | C2936862
|
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