Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	Brain demyelination due to methionine adenosyltransferase deficiency
Synonyms	MAT I/III deficiency MAT deficiency Methionine adenosyltransferase deficiency
Definitions	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
ID	http://www.orpha.net/ORDO/Orphanet_168598
database_cross_reference	ICD10:E72.1 OMIM:250850
definition	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
definition_citation	orphanet
has_exact_synonym	MAT I/III deficiency MAT deficiency Methionine adenosyltransferase deficiency
label	Brain demyelination due to methionine adenosyltransferase deficiency
preferred label	Brain demyelination due to methionine adenosyltransferase deficiency
prefLabel	Brain demyelination due to methionine adenosyltransferase deficiency
subClassOf	http://www.orpha.net/ORDO/Orphanet_79173 http://www.orpha.net/ORDO/Orphanet_71859

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_168598	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_168598	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_168598	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_168598	HSPO	SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_17780	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_168598	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_168598	HSPO	LOOM