WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111400 congenital dyserythropoietic anemia type IVa Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
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1 Ontology

Name
Disease Ontology

14 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
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:583 hemolytic anemia A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.
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:1338 congenital dyserythropoietic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
DOID:589 congenital hemolytic anemia  
DOID:0111400 congenital dyserythropoietic anemia type IVa A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.

13 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050736 DOID:0111400
is_a DOID:1338 DOID:0111400
is_a DOID:2355 DOID:0111400
is_a DOID:0050739 DOID:0111400
is_a DOID:0080015 DOID:0111400
is_a DOID:583 DOID:0111400
is_a DOID:630 DOID:0111400
is_a DOID:7 DOID:0111400
is_a DOID:720 DOID:0111400
is_a DOID:589 DOID:0111400
is_a DOID:0050177 DOID:0111400
is_a DOID:4 DOID:0111400
is_a DOID:74 DOID:0111400

10 Synonyms

Name Type
CDA type 4 synonym
CDA type IV synonym
CDAN4 synonym
Congenital dyserythropoietic anaemia due to KLF1 mutation synonym
Congenital dyserythropoietic anaemia type 4 synonym
congenital dyserythropoietic anaemia type IV synonym
Congenital dyserythropoietic anemia due to KLF1 mutation synonym
Congenital dyserythropoietic anemia type 4 synonym
CDA due to KLF1 mutation synonym
CDA IV synonym