JSON

Anemia, Diamond-Blackfan

Go to external page http://purl.bioontology.org/ontology/MESH/D029503

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)

Instance info

Synonyms

Erythroblastopenia, Inherited, Anemia, Diamond-Blackfan Type, Blackfan Diamond Disease, Congenital Hypoplastic Anemia of Blackfan and Diamond, Diamond-Blackfan Type Anemia, Hypoplastic Congenital Anemias, Congenital Erythroid Hypoplastic Anemia, Anemia, Diamond Blackfan, Anemias, Hypoplastic Congenital, Congenital Anemias, Hypoplastic, Anemia, Congenital Hypoplastic, Of Blackfan And Diamond, Diamond Anemia, Blackfan, Blackfan Diamond Anemia, Diamond Blackfan Anemia, Blackfan Diamond Syndrome, Anämie, Blackfan-Diamond- (DE), Red Cell Aplasia, Pure, Hereditary, Chronic Congenital Agenerative Anemia, Anemia, Hypoplastic Congenital, Imperfecta, Erythrogenesis, Inherited Erythroblastopenias, Erythrogenesis Imperfectas, Blackfan-Diamond-Anämie (DE), Diamond-Blackfan Anemia, Imperfectas, Erythrogenesis, Hypoplastic Congenital Anemia, Blackfan-Diamond Disease, Disease, Blackfan-Diamond, Inherited Erythroblastopenia, Blackfan-Diamond Syndrome, Anemia, Diamond Blackfan Type, Congenital Pure Red Cell Anemia, Pure Hereditary Red Cell Aplasia, Congenital Anemia, Hypoplastic, Erythrogenesis Imperfecta, Anemia, Blackfan Diamond, Erythroblastopenias, Inherited, Congenital Pure Red Cell Aplasia

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

DC

1

DX

20020101

HN

2002; use FANCONI ANEMIA 1992-2001

MDA

20010725

MMR

20130708

MN

C16.320.077.090,C15.378.071.750.500,C15.378.071.085.080.090,C15.378.190.196.080.090

PM

2002; see FANCONI ANEMIA 1992-2001

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D005199

TERMUI

T841263,T841264,T841262,T841270,T841271,T015955,T015954,T812534,T812535,T812536,T841269,T752961,T841267,T752962,T841268,T841265,T841266

TH

GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (2010)

cui

C1260899

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C567650,http://purl.bioontology.org/ontology/MESH/C567254,http://purl.bioontology.org/ontology/MESH/C567253,http://purl.bioontology.org/ontology/MESH/C567281,http://purl.bioontology.org/ontology/MESH/C567649,http://purl.bioontology.org/ontology/MESH/C536355,http://purl.bioontology.org/ontology/MESH/C567280,http://purl.bioontology.org/ontology/MESH/C536130,http://purl.bioontology.org/ontology/MESH/C567302,http://purl.bioontology.org/ontology/MESH/C538442,http://purl.bioontology.org/ontology/MESH/C565256

tui

T047

Instance relations

Types