Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/142690 http://purl.bioontology.org/ontology/OMIM/142690
Preferred Name	ACNE INVERSA, FAMILIAL, 1
Synonyms	HIDRADENITIS SUPPURATIVA, FAMILIAL ACNINV1 ACNE INVERSA, FAMILIAL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HIDRADENITIS SUPPURATIVA, FAMILIAL ACNINV1 ACNE INVERSA, FAMILIAL
prefLabel	ACNE INVERSA, FAMILIAL, 1
Gene Symbol	NCSTN
Scope Statement	Chronic, relapsing condition [MISCELLANEOUS] Caused by mutation in the nicastrin gene (NCSTN, 605254.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017856 http://purl.bioontology.org/ontology/OMIM/MTHU017855 http://purl.bioontology.org/ontology/OMIM/MTHU017848 http://purl.bioontology.org/ontology/OMIM/MTHU010576 http://purl.bioontology.org/ontology/OMIM/MTHU017851 http://purl.bioontology.org/ontology/OMIM/MTHU017853 http://purl.bioontology.org/ontology/OMIM/MTHU017857 http://purl.bioontology.org/ontology/OMIM/MTHU017850 http://purl.bioontology.org/ontology/OMIM/MTHU017859 http://purl.bioontology.org/ontology/OMIM/MTHU017849 http://purl.bioontology.org/ontology/OMIM/MTHU017854 http://purl.bioontology.org/ontology/OMIM/MTHU017852 http://purl.bioontology.org/ontology/OMIM/MTHU017858 See more See less
tui	T047
Gene Locus	1q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	142690
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4551962 C1840560
OMIM Entry Type	3
OMIM MimType Value	pound

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