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autosomal recessive sideroblastic anemia

^ http://purl.obolibrary.org/obo/MONDO_0016828

Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. [ Orphanet:260305 ]

Term info

database cross reference
  • SCTID:717050005 (MONDO:equivalentTo)
  • UMLS:C4274077 (MONDO:equivalentTo)
  • Orphanet:260305 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ARSA [ Orphanet:260305 ]

definition

Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.

exactMatch

http://identifiers.org/snomedct/717050005, http://linkedlifedata.com/resource/umls/id/C4274077, http://purl.obolibrary.org/obo/Orphanet_260305

has broad synonym

congenital sideroblastic anemia

has exact synonym

ARSA, sideroblastic anemia, autosomal recessive

id

MONDO:0016828