Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/619471
http://purl.bioontology.org/ontology/OMIM/619471
Preferred Name

BARDET-BIEDL SYNDROME 20
Synonyms
BBS20
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BBS20
prefLabel
BARDET-BIEDL SYNDROME 20
Gene Symbol
SRTD10
SLB
BBS20
RP71
KIAA1179
IFT172
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notation
619471
Scope Statement
Intra- and interfamilial phenotypic variability [MISCELLANEOUS]
Caused by mutation in the intraflagellar transport-172 gene (IFT172, 607386.0013) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU015094
http://purl.bioontology.org/ontology/OMIM/MTHU074091
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU074094
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU001218
http://purl.bioontology.org/ontology/OMIM/MTHU074093
http://purl.bioontology.org/ontology/OMIM/MTHU074088
http://purl.bioontology.org/ontology/OMIM/MTHU074092
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU000322
http://purl.bioontology.org/ontology/OMIM/MTHU003881
http://purl.bioontology.org/ontology/OMIM/MTHU007182
http://purl.bioontology.org/ontology/OMIM/MTHU074090
http://purl.bioontology.org/ontology/OMIM/MTHU074086
http://purl.bioontology.org/ontology/OMIM/MTHU074085
http://purl.bioontology.org/ontology/OMIM/MTHU003537
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU030735
http://purl.bioontology.org/ontology/OMIM/MTHU074089
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU074084
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU074087
http://purl.bioontology.org/ontology/OMIM/MTHU002221
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU000250
http://purl.bioontology.org/ontology/OMIM/MTHU011134
http://purl.bioontology.org/ontology/OMIM/MTHU008951
http://purl.bioontology.org/ontology/OMIM/MTHU002640
http://purl.bioontology.org/ontology/OMIM/MTHU002903
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
2p23.3
tui
T047
cui
C4310707
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