Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615032 http://purl.bioontology.org/ontology/OMIM/615032
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY
Synonyms	AUTISM, SUSCEPTIBILITY TO, 18, FORMERLY AUTS18, FORMERLY IDDAM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AUTISM, SUSCEPTIBILITY TO, 18, FORMERLY AUTS18, FORMERLY IDDAM
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY
Gene Symbol	CHD8 KIAA1564 IDDAM DUPLIN
Scope Statement	Susceptibility conferred by mutation in the chromodomain helicase DNA-binding protein 8 gene (CHD8, 610538.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU069522 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU004240 http://purl.bioontology.org/ontology/OMIM/MTHU069523 http://purl.bioontology.org/ontology/OMIM/MTHU069524 http://purl.bioontology.org/ontology/OMIM/MTHU037057 http://purl.bioontology.org/ontology/OMIM/MTHU069525 http://purl.bioontology.org/ontology/OMIM/MTHU055154 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	14q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615032
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554373
OMIM Entry Type	3
OMIM MimType Value	pound

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