Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/103900 http://purl.bioontology.org/ontology/OMIM/103900
Preferred Name	HYPERALDOSTERONISM, FAMILIAL, TYPE I
Synonyms	ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM GSH HALD1 GRA FH I ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM GSH HALD1 GRA FH I ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM See more See less
prefLabel	HYPERALDOSTERONISM, FAMILIAL, TYPE I
Gene Symbol	CYP11B1 P450C11 FHI
Scope Statement	Variable age at onset (childhood to adult) [MISCELLANEOUS] Caused by fusion of the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1, 610613) and the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, 124080) [MOLECULAR BASIS] Chimeric CYP11B1/CYP11B2 gene is an anti-Lepore-like fusion product [MISCELLANEOUS] Variable phenotypic expression [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU014670 http://purl.bioontology.org/ontology/OMIM/MTHU019647 http://purl.bioontology.org/ontology/OMIM/MTHU013727 http://purl.bioontology.org/ontology/OMIM/MTHU019649 http://purl.bioontology.org/ontology/OMIM/MTHU019650 http://purl.bioontology.org/ontology/OMIM/MTHU019651 http://purl.bioontology.org/ontology/OMIM/MTHU019648 See more See less
tui	T047
Gene Locus	8q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	103900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3838731
OMIM Entry Type	3
OMIM MimType Value	pound

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