Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618097 http://purl.bioontology.org/ontology/OMIM/618097
Preferred Name	MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
Synonyms	MGRISCE2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MGRISCE2
prefLabel	MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
Gene Symbol	TOP3A PEOB5 MGRISCE2
Scope Statement	Onset in utero [MISCELLANEOUS] Caused by mutation in the topoisomerase, DNA, III, alpha gene (TOP3A, 601243.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU051504 http://purl.bioontology.org/ontology/OMIM/MTHU062362 http://purl.bioontology.org/ontology/OMIM/MTHU017273 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU062364 http://purl.bioontology.org/ontology/OMIM/MTHU008968 http://purl.bioontology.org/ontology/OMIM/MTHU062361 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU062360 http://purl.bioontology.org/ontology/OMIM/MTHU062363 See more See less
tui	T047
Gene Locus	17p12-p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618097
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4748176
OMIM Entry Type	3
OMIM MimType Value	pound

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