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sarcosinemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0010008

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. [ Orphanet:3129 ]

Synonyms: sarcosinemia

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10059299 (Orphanet:3129/e)
  • DOID:0112307 (MONDO:equivalentTo)
  • SCTID:64852002 (MONDO:equivalentTo)
  • MESH:C537236 (Orphanet:3129/e)
  • ICD9:270.8 (MONDO:relatedTo)
  • GARD:158 (Orphanet:3129)
  • UMLS:C0268563 (Orphanet:3129/e)
  • Orphanet:3129 (OMIM:268900)
  • OMIM:268900 (Orphanet:3129/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10059299

exactMatch

http://identifiers.org/snomedct/64852002

http://identifiers.org/mesh/C537236

http://www.orpha.net/ORDO/Orphanet_3129

http://purl.obolibrary.org/obo/DOID_0112307

https://omim.org/entry/268900

http://linkedlifedata.com/resource/umls/id/C0268563

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019239

has related synonym

hypersarcosinemia

SARDH deficiency

SARD deficiency

sarcosine dehydrogenase complex deficiency

SARCOS

id

MONDO:0010008

seeAlso

https://rarediseases.info.nih.gov/diseases/158/sarcosinemia

https://search.clinicalgenome.org/kb/conditions/MONDO:0010008