Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619256 http://purl.bioontology.org/ontology/OMIM/619256
Preferred Name	HYPERCHOLANEMIA, FAMILIAL, 2
Synonyms	NTCP DEFICIENCY FHCA2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NTCP DEFICIENCY FHCA2
prefLabel	HYPERCHOLANEMIA, FAMILIAL, 2
Gene Symbol	SLC10A1 FHCA2 NTCP1
Scope Statement	Caused by mutation in the solute carrier family 10 (sodium/bile acid cotransporter family), member 1 gene (SLC10A1, 182396.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] The S267F allele is prevalent among individuals of East Asian origin [MISCELLANEOUS] Most patients are clinically asymptomatic [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU033056 http://purl.bioontology.org/ontology/OMIM/MTHU072994 http://purl.bioontology.org/ontology/OMIM/MTHU020037 http://purl.bioontology.org/ontology/OMIM/MTHU008931 http://purl.bioontology.org/ontology/OMIM/MTHU072995 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU072993 http://purl.bioontology.org/ontology/OMIM/MTHU072997 http://purl.bioontology.org/ontology/OMIM/MTHU009692 http://purl.bioontology.org/ontology/OMIM/MTHU072992 http://purl.bioontology.org/ontology/OMIM/MTHU072996 See more See less
tui	T047
Gene Locus	14q24.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619256
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5543243
OMIM Entry Type	3
OMIM MimType Value	pound

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