Online Mendelian Inheritance in Man - BARDET-BIEDL SYNDROME 19 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/615996 http://purl.bioontology.org/ontology/OMIM/615996
Preferred Name	BARDET-BIEDL SYNDROME 19
Synonyms	BBS19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BBS19
prefLabel	BARDET-BIEDL SYNDROME 19
Gene Symbol	IFT27 RABL4 BBS19
notation	615996
Scope Statement	Caused by mutation in the intraflagellar transport 27 gene (IFT27, 615870.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007956 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU009098 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU006627 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU068928 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU001509 http://purl.bioontology.org/ontology/OMIM/MTHU076812 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU041724 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU000250 http://purl.bioontology.org/ontology/OMIM/MTHU017450 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	22q12.3
tui	T047
cui	C3889475

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