Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SARCOSINEMIA
Synonyms	SARDH DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/268900
altLabel	SARDH DEFICIENCY SARDHD SARCOS SARD DEFICIENCY SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY HYPERSARCOSINEMIA
cui	C0268563
Gene Locus	9q34.2
Gene Symbol	SARD SAR SARDH
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	268900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SARCOSINEMIA
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537236	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C537236	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.59	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.obolibrary.org/obo/DOID_0112307	Human Disease Ontology 123	LOOM