Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610181 http://purl.bioontology.org/ontology/OMIM/610181
Preferred Name	AICARDI-GOUTIERES SYNDROME 2
Synonyms	AGS2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AGS2
prefLabel	AICARDI-GOUTIERES SYNDROME 2
Gene Symbol	FLJ11712 DLEU8 RNASEH2B AGS2
Scope Statement	Caused by mutation in the ribonuclease H2, subunit B gene (RNASEH2B, 610326.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Progressive or slowly progressive [MISCELLANEOUS] Onset in the first 2 years of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU046236 http://purl.bioontology.org/ontology/OMIM/MTHU013155 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU046241 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU046242 http://purl.bioontology.org/ontology/OMIM/MTHU068756 http://purl.bioontology.org/ontology/OMIM/MTHU000470 http://purl.bioontology.org/ontology/OMIM/MTHU024939 See more See less
tui	T047
Gene Locus	13q14.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610181
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3489724
OMIM Entry Type	3
OMIM MimType Value	pound

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