Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Galactosemia II
Synonyms	GALCT2
Definitions	(GALCT2) - Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
ID	http://identifiers.org/omim/230200
altLabel	GALCT2
definition	(GALCT2) - Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
id	OMIM:230200
notation	OMIM:230200
prefLabel	Galactosemia II
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/230200	GEXO	SAME_URI
http://identifiers.org/omim/230200	RETO	SAME_URI
http://identifiers.org/omim/230200	GEXO	LOOM
http://identifiers.org/omim/230200	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/230200	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_230200	CCO	LOOM