Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615022 http://purl.bioontology.org/ontology/OMIM/615022
Preferred Name	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7
Synonyms	ARCI7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ARCI7
prefLabel	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7
Gene Symbol	ARCI7
Scope Statement	Affected individuals are born with normal-appearing skin and develop scaling a few days after birth [MISCELLANEOUS] Variable severity of scaling and palmoplantar keratoderma [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU069519 http://purl.bioontology.org/ontology/OMIM/MTHU003000 http://purl.bioontology.org/ontology/OMIM/MTHU034822 http://purl.bioontology.org/ontology/OMIM/MTHU050866 http://purl.bioontology.org/ontology/OMIM/MTHU069518 http://purl.bioontology.org/ontology/OMIM/MTHU003001 http://purl.bioontology.org/ontology/OMIM/MTHU050868 http://purl.bioontology.org/ontology/OMIM/MTHU050864 http://purl.bioontology.org/ontology/OMIM/MTHU000701 See more See less
tui	T047
Gene Locus	12p11.2-q13.1
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	615022
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554348
OMIM Entry Type	5
OMIM MimType Value	perc

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