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Diamond-Blackfan anemia

^ http://purl.obolibrary.org/obo/MONDO_0015253

A congenital aregenerative and often macrocytic anemia with erythroblastopenia. [ Orphanet:124 ]

Term info

database cross reference
  • MedDRA:10062989 (Orphanet:124/e)
  • OMIMPS:105650 (MONDO:equivalentTo)
  • GARD:0006274 (MONDO:equivalentTo)
  • DOID:1339 (MONDO:equivalentTo)
  • Orphanet:124 (MONDO:equivalentTo)
  • NCIT:C61236 (MONDO:equivalentTo)
  • SCTID:88854002 (MONDO:equivalentTo)
  • UMLS:C1260899 (Orphanet:124/e)
  • UMLS:C0265265 (MONDO:equivalentTo)
  • MESH:D029503 (Orphanet:124/e)
Subsets

ordo_disease, clingen

abbreviation
BDS [ GARD:0006274 ]

closeMatch

http://identifiers.org/meddra/10062989

definition

A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

exactMatch

https://omim.org/phenotypicSeries/PS105650, http://identifiers.org/mesh/D029503, http://purl.obolibrary.org/obo/Orphanet_124, http://purl.obolibrary.org/obo/NCIT_C61236, http://linkedlifedata.com/resource/umls/id/C1260899, http://identifiers.org/snomedct/88854002, http://purl.obolibrary.org/obo/DOID_1339, http://linkedlifedata.com/resource/umls/id/C0265265

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015335, http://purl.obolibrary.org/obo/MONDO_0015945, http://purl.obolibrary.org/obo/MONDO_0019236

has exact synonym

Diamond-Blackfan anemia, DBA, Aase syndrome, congenital PRCA, inherited erythroblastopenia, erythrogenesis imperfecta, Aase-Smith II syndrome, congenital hypoplastic anemia, Blackfan-Diamond type, congenital hypoplastic anemia, Blackfan - Diamond syndrome, chronic constitutional pure red cell anaemia, Blackfan-Diamond anemia, congenital pure red cell aplasia

has related synonym

BDS, anemia Diamond Blackfan type, anemia congenital erythroid hypoplastic, Blackfan Diamond syndrome, Red cell aplasia, pure hereditary, aregenerative anemia chronic congenital

id

MONDO:0015253