Online Mendelian Inheritance in Man - LIANG-WANG SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618729 http://purl.bioontology.org/ontology/OMIM/618729
Preferred Name	LIANG-WANG SYNDROME
Synonyms	LIWAS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LIWAS
prefLabel	LIANG-WANG SYNDROME
Gene Symbol	PNKD3 CADEDS IEG16 KCNMA1 SLO LIWAS See more See less
Scope Statement	Highly variable severity [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 gene (KCNMA1, 600150.0007) [MOLECULAR BASIS] De novo mutation [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Patients with type A phenotype have the most severe disorder with multisystem involvement (last curated January 2020) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU066859 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU066851 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU046575 http://purl.bioontology.org/ontology/OMIM/MTHU064350 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU009234 http://purl.bioontology.org/ontology/OMIM/MTHU066856 http://purl.bioontology.org/ontology/OMIM/MTHU034611 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU061233 http://purl.bioontology.org/ontology/OMIM/MTHU066857 http://purl.bioontology.org/ontology/OMIM/MTHU066865 http://purl.bioontology.org/ontology/OMIM/MTHU057723 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU005818 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU053146 http://purl.bioontology.org/ontology/OMIM/MTHU066861 http://purl.bioontology.org/ontology/OMIM/MTHU066863 http://purl.bioontology.org/ontology/OMIM/MTHU066860 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU066852 http://purl.bioontology.org/ontology/OMIM/MTHU070810 http://purl.bioontology.org/ontology/OMIM/MTHU066862 http://purl.bioontology.org/ontology/OMIM/MTHU066853 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU066854 http://purl.bioontology.org/ontology/OMIM/MTHU066864 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU004047 http://purl.bioontology.org/ontology/OMIM/MTHU066866 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU066855 http://purl.bioontology.org/ontology/OMIM/MTHU059121 http://purl.bioontology.org/ontology/OMIM/MTHU004222 http://purl.bioontology.org/ontology/OMIM/MTHU000152 http://purl.bioontology.org/ontology/OMIM/MTHU001853 http://purl.bioontology.org/ontology/OMIM/MTHU005738 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	10q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618729
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5231479
OMIM Entry Type	3
OMIM MimType Value	pound

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