Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	TOPOISOMERASE, DNA, III, ALPHA
Synonyms	TOPOISOMERASE, DNA, III
ID	http://purl.bioontology.org/ontology/OMIM/601243
altLabel	TOPOISOMERASE, DNA, III PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 TOP3A TOP3 MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 TOPO III-ALPHA
cui	C1336659 C4748176 C4748184
Gene Locus	17p12-p11.2
Gene Symbol	TOP3A PEOB5 MGRISCE2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601243.0002 http://purl.bioontology.org/ontology/OMIM/601243.0001 http://purl.bioontology.org/ontology/OMIM/601243.0003 http://purl.bioontology.org/ontology/OMIM/601243.0004 http://purl.bioontology.org/ontology/OMIM/601243.0005
MIMTYPEMEANING	Gene with known sequence
notation	601243
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	TOPOISOMERASE, DNA, III, ALPHA
tui	T047 T028

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D004264	MESH	CUI