Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/123700 http://purl.bioontology.org/ontology/OMIM/123700
Preferred Name	CUTIS LAXA, AUTOSOMAL DOMINANT 1
Synonyms	ADCL1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ADCL1
prefLabel	CUTIS LAXA, AUTOSOMAL DOMINANT 1
Gene Symbol	SVAS ELN ADCL1
Scope Statement	Caused by mutation in the fibulin 5 gene (FBLN5, 604580.0001) [MOLECULAR BASIS] Caused by mutation in the elastin gene (ELN, 130160.0008) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Onset of skin manifestations from birth to puberty [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/MTHU006920 http://purl.bioontology.org/ontology/OMIM/MTHU023512 http://purl.bioontology.org/ontology/OMIM/MTHU023511 http://purl.bioontology.org/ontology/OMIM/MTHU023513 http://purl.bioontology.org/ontology/OMIM/MTHU036652 http://purl.bioontology.org/ontology/OMIM/MTHU024256 http://purl.bioontology.org/ontology/OMIM/MTHU024258 http://purl.bioontology.org/ontology/OMIM/MTHU024255 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU024257 http://purl.bioontology.org/ontology/OMIM/MTHU005086 See more See less
tui	T047
Gene Locus	7q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	123700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3276539
OMIM Entry Type	3
OMIM MimType Value	pound

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