Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614491 http://purl.bioontology.org/ontology/OMIM/614491
Preferred Name	PSEUDOHYPOALDOSTERONISM, TYPE IIB
Synonyms	PHA2B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PHA2B
prefLabel	PSEUDOHYPOALDOSTERONISM, TYPE IIB
Gene Symbol	WNK4 PHA2B PRKWNK4
Scope Statement	Responsive to thiazide diuretics [MISCELLANEOUS] 15 patients from 5 kindreds reported (as of February 2012) [MISCELLANEOUS] Age at diagnosis 28 +/- 18 years [MISCELLANEOUS] Only 10% develop hypertension at 18 years of age or less [MISCELLANEOUS] Caused by mutation in the WNK lysine deficient protein kinase 4 gene (WNK4, 601844.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036055 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU069313 http://purl.bioontology.org/ontology/OMIM/MTHU036061
tui	T047
Gene Locus	17q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614491
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1840390
OMIM Entry Type	3
OMIM MimType Value	pound

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