JSON

carnosinemia

^ http://purl.obolibrary.org/obo/MONDO_0008921

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. [ Orphanet:1361 ]

Term info

database cross reference
  • GARD:0006001 (MONDO:equivalentTo)
  • SCTID:410052008 (MONDO:equivalentTo)
  • Orphanet:1361 (OMIM:212200)
  • UMLS:C3495555 (Orphanet:1361)
  • OMIM:212200 (Orphanet:1361/e)
  • NCIT:C125661 (MONDO:equivalentTo)
Subsets

ordo_disease

ambiguous
homocarnosinosis [ Orphanet:1361 ]

IAO 0000233

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

definition

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

exactMatch

http://identifiers.org/snomedct/410052008, http://purl.obolibrary.org/obo/NCIT_C125661, https://omim.org/entry/212200, http://linkedlifedata.com/resource/umls/id/C3495555, http://purl.obolibrary.org/obo/Orphanet_1361

has exact synonym

carnosinemia, Carnosinase deficiency

has related synonym

homocarnosinosis

id

MONDO:0008921

Term relations

Subclass of: