Online Mendelian Inheritance in Man - AUTISM, SUSCEPTIBILITY TO, 8 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607373 http://purl.bioontology.org/ontology/OMIM/607373
Preferred Name	AUTISM, SUSCEPTIBILITY TO, 8
Synonyms	AUTS8 AUTS2, FORMERLY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AUTS8 AUTS2, FORMERLY
prefLabel	AUTISM, SUSCEPTIBILITY TO, 8
Gene Symbol	AUTS8
Scope Statement	Genetic heterogeneity (see 209850) [MISCELLANEOUS] Onset by 3 years of age [MISCELLANEOUS] Occurs in 2-5 per 10,000 individuals [MISCELLANEOUS] Associated with Fragile X syndrome (300624) [MISCELLANEOUS] Associated with untreated phenylketonuria (261600) [MISCELLANEOUS] Male to female ratio 4:1 [MISCELLANEOUS] Associated with tuberous sclerosis (191100) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001941 http://purl.bioontology.org/ontology/OMIM/MTHU001935 http://purl.bioontology.org/ontology/OMIM/MTHU001981 http://purl.bioontology.org/ontology/OMIM/MTHU001982 http://purl.bioontology.org/ontology/OMIM/MTHU022121 http://purl.bioontology.org/ontology/OMIM/MTHU001978 http://purl.bioontology.org/ontology/OMIM/MTHU001936 http://purl.bioontology.org/ontology/OMIM/MTHU022120 http://purl.bioontology.org/ontology/OMIM/MTHU001979 http://purl.bioontology.org/ontology/OMIM/MTHU001937 http://purl.bioontology.org/ontology/OMIM/MTHU001980 http://purl.bioontology.org/ontology/OMIM/MTHU001938 See more See less
tui	T033
Gene Locus	3q25-q27
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	607373
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001943 http://purl.bioontology.org/ontology/OMIM/MTHU000251
cui	C1969710
OMIM Entry Type	5
OMIM MimType Value	perc

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display