Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/613615 http://purl.bioontology.org/ontology/OMIM/613615
Preferred Name	SENIOR-LOKEN SYNDROME 7
Synonyms	SLSN7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SLSN7
prefLabel	SENIOR-LOKEN SYNDROME 7
Gene Symbol	SDCCAG8 CCCAP SLSN7 BBS16
notation	613615
Scope Statement	Caused by mutation in the SHH signaling and ciliogenesis regulator SDCCAG8 gene (SDCCAG8, 613524.0001) [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/MTHU023006 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU004856 http://purl.bioontology.org/ontology/OMIM/MTHU036597
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	1q43-q44
tui	T047
cui	C3150877

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