encephalopathy due to sulfite oxidase deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0019358
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. [ Orphanet:833 ]
This is just here as a test because I lose it
Term information
database
cross reference
- GARD:16549 (Orphanet:833)
- SCTID:715980003 (MONDO:equivalentTo)
- UMLS:C4275019 (MONDO:equivalentTo)
- Orphanet:833 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
exactMatch
http://linkedlifedata.com/resource/umls/id/C4275019
http://identifiers.org/snomedct/715980003
http://www.orpha.net/ORDO/Orphanet_833