Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/605376 http://purl.bioontology.org/ontology/OMIM/605376
Preferred Name	HETEROTAXY, VISCERAL, 2, AUTOSOMAL
Synonyms	HTX2 HTX
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HTX2 HTX
prefLabel	HETEROTAXY, VISCERAL, 2, AUTOSOMAL
Gene Symbol	HTX2 CFC1 CRYPTIC
Scope Statement	Incomplete penetrance [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Caused by mutation in the cryptic protein gene (CFC1, 605194.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049725 http://purl.bioontology.org/ontology/OMIM/MTHU049728 http://purl.bioontology.org/ontology/OMIM/MTHU049727 http://purl.bioontology.org/ontology/OMIM/MTHU001474 http://purl.bioontology.org/ontology/OMIM/MTHU037624 http://purl.bioontology.org/ontology/OMIM/MTHU049724 http://purl.bioontology.org/ontology/OMIM/MTHU013906 http://purl.bioontology.org/ontology/OMIM/MTHU006865 http://purl.bioontology.org/ontology/OMIM/MTHU049729 http://purl.bioontology.org/ontology/OMIM/MTHU049726 http://purl.bioontology.org/ontology/OMIM/MTHU005778 See more See less
tui	T047
Gene Locus	2q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605376
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1415817
Moved from	613853
OMIM Entry Type	3
OMIM MimType Value	pound

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