Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614434 http://purl.bioontology.org/ontology/OMIM/614434
Preferred Name	CUTIS LAXA, AUTOSOMAL DOMINANT 2
Synonyms	ADCL2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ADCL2
prefLabel	CUTIS LAXA, AUTOSOMAL DOMINANT 2
Gene Symbol	CMT1H ARCL1A ADCL2 ARMD3 FBLN5
Scope Statement	One African American female has been described [MISCELLANEOUS] Caused by mutation in the fibulin 5 gene (FBLN5, 604580.0002) [MOLECULAR BASIS] Cutaneous manifestations significantly improved over the first decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU020244 http://purl.bioontology.org/ontology/OMIM/MTHU007720 http://purl.bioontology.org/ontology/OMIM/MTHU065818 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU065820 http://purl.bioontology.org/ontology/OMIM/MTHU065819 http://purl.bioontology.org/ontology/OMIM/MTHU065817 See more See less
tui	T047
Gene Locus	14q32.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614434
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3280794
OMIM Entry Type	3
OMIM MimType Value	pound

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