Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/145260 http://purl.bioontology.org/ontology/OMIM/145260
Preferred Name	PSEUDOHYPOALDOSTERONISM, TYPE IIA
Synonyms	GORDON HYPERKALEMIA-HYPERTENSION SYNDROME PHA2A HYPERTENSIVE HYPERKALEMIA, FAMILIAL HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GORDON HYPERKALEMIA-HYPERTENSION SYNDROME PHA2A HYPERTENSIVE HYPERKALEMIA, FAMILIAL HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
prefLabel	PSEUDOHYPOALDOSTERONISM, TYPE IIA
Gene Symbol	PHA2A PHA2
notation	145260
Scope Statement	Responsive to thiazide diuretics [MISCELLANEOUS]
OMIM MimType Value	perc
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	5
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU031030 http://purl.bioontology.org/ontology/OMIM/MTHU031028 http://purl.bioontology.org/ontology/OMIM/MTHU036844
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
Gene Locus	1q31-q42
tui	T047
cui	C1840389 C1449844 C2713447

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