Online Mendelian Inheritance in Man - APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620789 http://purl.bioontology.org/ontology/OMIM/620789
Preferred Name	APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
Synonyms	ACED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ACED
prefLabel	APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
Gene Symbol	FOSL2 ACED
Scope Statement	Caused by mutation in the FOS-like 2, AP-1 transcription factor subunit gene (FOSL2, 601575.0001) [MOLECULAR BASIS] Variable features apart from aplasia cutis and enamel defects [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078632 http://purl.bioontology.org/ontology/OMIM/MTHU002993 http://purl.bioontology.org/ontology/OMIM/MTHU005302 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU020954 http://purl.bioontology.org/ontology/OMIM/MTHU078634 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU078637 http://purl.bioontology.org/ontology/OMIM/MTHU078629 http://purl.bioontology.org/ontology/OMIM/MTHU002744 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU078636 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU053147 http://purl.bioontology.org/ontology/OMIM/MTHU078628 http://purl.bioontology.org/ontology/OMIM/MTHU078631 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU007900 http://purl.bioontology.org/ontology/OMIM/MTHU012914 http://purl.bioontology.org/ontology/OMIM/MTHU078630 http://purl.bioontology.org/ontology/OMIM/MTHU012780 http://purl.bioontology.org/ontology/OMIM/MTHU078633 http://purl.bioontology.org/ontology/OMIM/MTHU078635 http://purl.bioontology.org/ontology/OMIM/MTHU078627 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	2p23.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620789
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5935608
OMIM Entry Type	3
OMIM MimType Value	pound

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