Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614496 http://purl.bioontology.org/ontology/OMIM/614496
Preferred Name	PSEUDOHYPOALDOSTERONISM, TYPE IIE
Synonyms	PHA2E
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PHA2E
prefLabel	PSEUDOHYPOALDOSTERONISM, TYPE IIE
Gene Symbol	PHA2E NEDAUS CUL3
Scope Statement	Responsive to thiazide diuretics [MISCELLANEOUS] 94% develop hypertension at 18 years of age or less [MISCELLANEOUS] Caused by mutation in the cullin 3 gene (CUL3, 603136.0001) [MOLECULAR BASIS] Age at diagnosis 9 +/- 6 years [MISCELLANEOUS] 21 patients from 17 kindreds reported (as of February 2012) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036086 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU069313 http://purl.bioontology.org/ontology/OMIM/MTHU036092
tui	T047
Gene Locus	2q36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614496
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3469606
OMIM Entry Type	3
OMIM MimType Value	pound

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