WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:1339 Diamond-Blackfan anemia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.

1 Ontology

Name
Disease Ontology

10 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:74 hematopoietic system disease A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:2355 anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
DOID:720 normocytic anemia An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL.
DOID:12449 aplastic anemia A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
DOID:1342 congenital hypoplastic anemia An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life.
DOID:1339 Diamond-Blackfan anemia A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
DOID:1340 pure red-cell aplasia A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.

29 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:1339 DOID:0111878
is_a DOID:1339 DOID:0111879
is_a DOID:1339 DOID:0111880
is_a DOID:1339 DOID:0111881
is_a DOID:1339 DOID:0111882
is_a DOID:1339 DOID:0111883
is_a DOID:1339 DOID:0111884
is_a DOID:1339 DOID:0111885
is_a DOID:1339 DOID:0111886
is_a DOID:1339 DOID:0111887
is_a DOID:1339 DOID:0111888
is_a DOID:1339 DOID:0111889
is_a DOID:1339 DOID:0111890
is_a DOID:1339 DOID:0111891
is_a DOID:1339 DOID:0111892
is_a DOID:1339 DOID:0111893
is_a DOID:1339 DOID:0111894
is_a DOID:1339 DOID:0111895
is_a DOID:1339 DOID:0111896
is_a DOID:1339 DOID:0111897
is_a DOID:1340 DOID:1339
is_a DOID:0080015 DOID:1339
is_a DOID:74 DOID:1339
is_a DOID:12449 DOID:1339
is_a DOID:4 DOID:1339
is_a DOID:1342 DOID:1339
is_a DOID:2355 DOID:1339
is_a DOID:720 DOID:1339
is_a DOID:7 DOID:1339

2 Synonyms

Name Type
Blackfan - Diamond syndrome synonym
chronic constitutional pure red cell anaemia synonym