JSON

transcobalamin I deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008659

Term info

database cross reference
  • OMIM:193090 (Orphanet:2967/e)
  • SCTID:237933007 (MONDO:equivalentTo)
  • Orphanet:2967 (OMIM:193090)
  • UMLS:C0342700 (Orphanet:2967)
  • MESH:C562798 (MONDO:equivalentTo)
  • GARD:0005239 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

exactMatch

https://omim.org/entry/193090, http://identifiers.org/mesh/C562798, http://purl.obolibrary.org/obo/Orphanet_2967, http://linkedlifedata.com/resource/umls/id/C0342700, http://identifiers.org/snomedct/237933007

has exact synonym

transcobalamin-1 deficiency, Haptocorrin deficiency, TCI deficiency, transcobalamin I deficiency

has related synonym

R Binder deficiency with lactoferrin deficiency, transcobalamin 1 deficiency with lactoferrin deficiency, Tcn1 deficiency, cobalamin Pseudodeficiency due to transcobalamin deficiency, transcobalamin 1 deficiency, cobalamin R Binder Protein deficiency

id

MONDO:0008659

seeAlso

https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency