Online Mendelian Inheritance in Man - CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/203400 http://purl.bioontology.org/ontology/OMIM/203400
Preferred Name	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
Synonyms	FHHA1A CMO I DEFICIENCY ALDOSTERONE DEFICIENCY I STEROID 18-HYDROXYLASE DEFICIENCY HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1 18-HYDROXYLASE DEFICIENCY ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FHHA1A CMO I DEFICIENCY ALDOSTERONE DEFICIENCY I STEROID 18-HYDROXYLASE DEFICIENCY HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1 18-HYDROXYLASE DEFICIENCY ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE See more See less
prefLabel	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
Gene Symbol	CYP11B2
Scope Statement	Caused by mutation in the cytochrome p450 subfamily XIB, polypeptide 2 gene (CYP11B2, 124080.0002) [MOLECULAR BASIS] Infants may have acute life-threatening crises [MISCELLANEOUS] Onset in neonatal period [MISCELLANEOUS] Adults may be asymptomatic [MISCELLANEOUS] Symptoms ameliorate with age [MISCELLANEOUS] Allelic disorder to corticosterone methyloxidase type II deficiency (610600) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU041707 http://purl.bioontology.org/ontology/OMIM/MTHU000163 http://purl.bioontology.org/ontology/OMIM/MTHU014603 http://purl.bioontology.org/ontology/OMIM/MTHU014604 http://purl.bioontology.org/ontology/OMIM/MTHU014605 http://purl.bioontology.org/ontology/OMIM/MTHU041708 http://purl.bioontology.org/ontology/OMIM/MTHU000177 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU000164 http://purl.bioontology.org/ontology/OMIM/MTHU036844 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU014606 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU008547 http://purl.bioontology.org/ontology/OMIM/MTHU001921 http://purl.bioontology.org/ontology/OMIM/MTHU000160 See more See less
tui	T047
Gene Locus	8q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	203400
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268293
OMIM Entry Type	3
OMIM MimType Value	pound

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