Online Mendelian Inheritance in Man - KEPPEN-LUBINSKY SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614098 http://purl.bioontology.org/ontology/OMIM/614098
Preferred Name	KEPPEN-LUBINSKY SYNDROME
Synonyms	KPLBS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	KPLBS
prefLabel	KEPPEN-LUBINSKY SYNDROME
Gene Symbol	GIRK2 KPLBS KCNJ7 KCNJ6
Scope Statement	Four unrelated boys have been reported (last curated March 2015) [MISCELLANEOUS] Caused by mutation in the inwardly rectifying potassium channel, subfamily J, member 6 gene (KCNJ6, 600877.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002034 http://purl.bioontology.org/ontology/OMIM/MTHU009021 http://purl.bioontology.org/ontology/OMIM/MTHU018753 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU022348 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU036517 http://purl.bioontology.org/ontology/OMIM/MTHU015943 http://purl.bioontology.org/ontology/OMIM/MTHU035062 http://purl.bioontology.org/ontology/OMIM/MTHU035066 http://purl.bioontology.org/ontology/OMIM/MTHU010284 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU002602 http://purl.bioontology.org/ontology/OMIM/MTHU004059 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU003212 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU035065 http://purl.bioontology.org/ontology/OMIM/MTHU061880 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU002110 http://purl.bioontology.org/ontology/OMIM/MTHU035063 http://purl.bioontology.org/ontology/OMIM/MTHU035064 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	21q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614098
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3279800
OMIM Entry Type	3
OMIM MimType Value	pound

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