Online Mendelian Inheritance in Man - CUTIS LAXA, AUTOSOMAL DOMINANT 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616603 http://purl.bioontology.org/ontology/OMIM/616603
Preferred Name	CUTIS LAXA, AUTOSOMAL DOMINANT 3
Synonyms	ADCL3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ADCL3
prefLabel	CUTIS LAXA, AUTOSOMAL DOMINANT 3
Gene Symbol	ARCL3A GSAS ALDH18A1 ADCL3 PYCS SPG9A SPG9B See more See less
Scope Statement	Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0014) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022460 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU052347 http://purl.bioontology.org/ontology/OMIM/MTHU021665 http://purl.bioontology.org/ontology/OMIM/MTHU070071 http://purl.bioontology.org/ontology/OMIM/MTHU009220 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU026196 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU019367 http://purl.bioontology.org/ontology/OMIM/MTHU014363 http://purl.bioontology.org/ontology/OMIM/MTHU052352 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU052345 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU005933 http://purl.bioontology.org/ontology/OMIM/MTHU000577 http://purl.bioontology.org/ontology/OMIM/MTHU070073 http://purl.bioontology.org/ontology/OMIM/MTHU036908 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU036917 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU048874 http://purl.bioontology.org/ontology/OMIM/MTHU035760 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU002163 http://purl.bioontology.org/ontology/OMIM/MTHU070074 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU052343 http://purl.bioontology.org/ontology/OMIM/MTHU070072 http://purl.bioontology.org/ontology/OMIM/MTHU019833 http://purl.bioontology.org/ontology/OMIM/MTHU070070 http://purl.bioontology.org/ontology/OMIM/MTHU011786 http://purl.bioontology.org/ontology/OMIM/MTHU006372 See more See less
tui	T047
Gene Locus	10q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616603
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225268
OMIM Entry Type	3
OMIM MimType Value	pound

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