JSON

atransferrinemia

^ http://purl.obolibrary.org/obo/MONDO_0008846

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. [ Orphanet:1195 ]

Term info

database cross reference
  • NCIT:C125693 (MONDO:equivalentTo)
  • Orphanet:1195 (OMIM:209300)
  • SCTID:111571009 (MONDO:equivalentTo)
  • MESH:C538259 (Orphanet:1195/e)
  • DOID:0050649 (MONDO:equivalentTo)
  • GARD:0009595 (MONDO:equivalentTo)
  • OMIM:209300 (Orphanet:1195/e)
  • UMLS:C0521802 (Orphanet:1195/e)
Subsets

gard_rare, ordo_disease

definition

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050649, http://linkedlifedata.com/resource/umls/id/C0521802, http://purl.obolibrary.org/obo/NCIT_C125693, http://identifiers.org/mesh/C538259, https://omim.org/entry/209300, http://purl.obolibrary.org/obo/Orphanet_1195, http://identifiers.org/snomedct/111571009

has exact synonym

familial hypotransferrinemia, hereditary atransferrinemia, congenital atransferrinemia, atransferrinemia, congenital hypotransferrinemia

has related synonym

transferrin serum level quantitative trait locus 1, hypotransferrinemia, familial

id

MONDO:0008846

seeAlso

https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia