Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/D029503 http://purl.bioontology.org/ontology/MESH/D029503
Preferred Name	Anemia, Diamond-Blackfan
Definitions	A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Synonyms	Anemia, Hypoplastic Congenital Erythroblastopenias, Inherited Blackfan Diamond Disease Diamond Blackfan Anemia Inherited Erythroblastopenia Diamond Anemia, Blackfan Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Erythrogenesis Imperfecta Congenital Anemias, Hypoplastic Erythroblastopenia, Inherited Imperfecta, Erythrogenesis Diamond-Blackfan Type Anemia Imperfectas, Erythrogenesis Chronic Congenital Agenerative Anemia Blackfan-Diamond Syndrome Blackfan Diamond Syndrome Hypoplastic Congenital Anemias Congenital Pure Red Cell Aplasia Blackfan-Diamond Disease Congenital Pure Red Cell Anemia Inherited Erythroblastopenias Pure Hereditary Red Cell Aplasia Congenital Erythroid Hypoplastic Anemia Hypoplastic Congenital Anemia Congenital Hypoplastic Anemia of Blackfan and Diamond Red Cell Aplasia, Pure, Hereditary Disease, Blackfan-Diamond Anemia, Diamond-Blackfan Type Anemias, Hypoplastic Congenital Anemia, Diamond Blackfan Type Diamond-Blackfan Anemia Erythrogenesis Imperfectas Congenital Anemia, Hypoplastic Anemia, Diamond Blackfan Anemia, Blackfan Diamond Blackfan Diamond Anemia See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
altLabel	Anemia, Hypoplastic Congenital Erythroblastopenias, Inherited Blackfan Diamond Disease Diamond Blackfan Anemia Inherited Erythroblastopenia Diamond Anemia, Blackfan Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Erythrogenesis Imperfecta Congenital Anemias, Hypoplastic Erythroblastopenia, Inherited Imperfecta, Erythrogenesis Diamond-Blackfan Type Anemia Imperfectas, Erythrogenesis Chronic Congenital Agenerative Anemia Blackfan-Diamond Syndrome Blackfan Diamond Syndrome Hypoplastic Congenital Anemias Congenital Pure Red Cell Aplasia Blackfan-Diamond Disease Congenital Pure Red Cell Anemia Inherited Erythroblastopenias Pure Hereditary Red Cell Aplasia Congenital Erythroid Hypoplastic Anemia Hypoplastic Congenital Anemia Congenital Hypoplastic Anemia of Blackfan and Diamond Red Cell Aplasia, Pure, Hereditary Disease, Blackfan-Diamond Anemia, Diamond-Blackfan Type Anemias, Hypoplastic Congenital Anemia, Diamond Blackfan Type Diamond-Blackfan Anemia Erythrogenesis Imperfectas Congenital Anemia, Hypoplastic Anemia, Diamond Blackfan Anemia, Blackfan Diamond Blackfan Diamond Anemia See more See less
prefLabel	Anemia, Diamond-Blackfan
Machine permutation	2002; see FANCONI ANEMIA 1992-2001
HN	2002; use FANCONI ANEMIA 1992-2001
Mapped from	http://purl.bioontology.org/ontology/MESH/C567280 http://purl.bioontology.org/ontology/MESH/C567281 http://purl.bioontology.org/ontology/MESH/C567254 http://purl.bioontology.org/ontology/MESH/C567253 http://purl.bioontology.org/ontology/MESH/C536355 http://purl.bioontology.org/ontology/MESH/C538442 http://purl.bioontology.org/ontology/MESH/C567650 http://purl.bioontology.org/ontology/MESH/C565256 http://purl.bioontology.org/ontology/MESH/C567302 http://purl.bioontology.org/ontology/MESH/C536130 http://purl.bioontology.org/ontology/MESH/C567649 See more See less
type	http://www.w3.org/2002/07/owl#Class
tui	T047
TERMUI	T841265 T841271 T812536 T841267 T841270 T015955 T841264 T841268 T841266 T752962 T015954 T812534 T841263 T812535 T841262 T841269 T752961 See more See less
TH	OMIM (2013) NLM (1992) NLM (2010) GHR (2014) ORD (2010)
MMR	20230226
notation	D029503
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
DX	20020101
cui	C1260899
DC	1
MN	C15.378.050.750.500 C15.378.190.223.500.500.090 C16.320.077.090 C15.378.050.085.080.090
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
MDA	19910109
subClassOf	http://purl.bioontology.org/ontology/MESH/D012010 http://purl.bioontology.org/ontology/MESH/D029502

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display