WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:13636 Fanconi anemia Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.

1 Ontology

Name
Disease Ontology

9 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:13636 Fanconi anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
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.

29 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:13636 DOID:0060978
is_a DOID:13636 DOID:0060979
is_a DOID:13636 DOID:0111080
is_a DOID:13636 DOID:0111081
is_a DOID:13636 DOID:0111082
is_a DOID:13636 DOID:0111083
is_a DOID:13636 DOID:0111084
is_a DOID:13636 DOID:0111085
is_a DOID:13636 DOID:0111086
is_a DOID:13636 DOID:0111087
is_a DOID:13636 DOID:0111088
is_a DOID:13636 DOID:0111089
is_a DOID:13636 DOID:0111090
is_a DOID:13636 DOID:0111091
is_a DOID:13636 DOID:0111092
is_a DOID:13636 DOID:0111093
is_a DOID:13636 DOID:0111094
is_a DOID:13636 DOID:0111095
is_a DOID:13636 DOID:0111096
is_a DOID:13636 DOID:0111097
is_a DOID:13636 DOID:0111098
is_a DOID:1342 DOID:13636
is_a DOID:74 DOID:13636
is_a DOID:0080015 DOID:13636
is_a DOID:720 DOID:13636
is_a DOID:2355 DOID:13636
is_a DOID:7 DOID:13636
is_a DOID:12449 DOID:13636
is_a DOID:4 DOID:13636

5 Synonyms

Name Type
Fanconi anaemia synonym
Fanconi pancytopenia synonym
Fanconi panmyelopathy synonym
Fanconi's anaemia synonym
Fanconi's anemia synonym