Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618182 http://purl.bioontology.org/ontology/OMIM/618182
Preferred Name	ORTHOSTATIC HYPOTENSION 2
Synonyms	ORTHYP2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ORTHYP2
prefLabel	ORTHOSTATIC HYPOTENSION 2
Gene Symbol	CYB561 ORTHYP2
Scope Statement	Early death may occur [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the cytochrome b561 gene (CYB561, 600019.0001) [MOLECULAR BASIS] Two unrelated families have been reported (last curated November 2018) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU061072 http://purl.bioontology.org/ontology/OMIM/MTHU062769 http://purl.bioontology.org/ontology/OMIM/MTHU002508 http://purl.bioontology.org/ontology/OMIM/MTHU062770 http://purl.bioontology.org/ontology/OMIM/MTHU062766 http://purl.bioontology.org/ontology/OMIM/MTHU062768 http://purl.bioontology.org/ontology/OMIM/MTHU062767 http://purl.bioontology.org/ontology/OMIM/MTHU062765 http://purl.bioontology.org/ontology/OMIM/MTHU062772 http://purl.bioontology.org/ontology/OMIM/MTHU062771 See more See less
tui	T047
Gene Locus	17q11-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618182
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748569
OMIM Entry Type	3
OMIM MimType Value	pound

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