WormMine: DiseaseOntology DOID:0111401 congenital dyserythropoietic anemia type II Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.

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: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:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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:0111401	congenital dyserythropoietic anemia type II	A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.

13 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:1338	DOID:0111401
is_a	DOID:0050737	DOID:0111401
is_a	DOID:2355	DOID:0111401
is_a	DOID:0050739	DOID:0111401
is_a	DOID:583	DOID:0111401
is_a	DOID:4	DOID:0111401
is_a	DOID:7	DOID:0111401
is_a	DOID:630	DOID:0111401
is_a	DOID:0050177	DOID:0111401
is_a	DOID:720	DOID:0111401
is_a	DOID:589	DOID:0111401
is_a	DOID:74	DOID:0111401
is_a	DOID:0080015	DOID:0111401

9 Synonyms

• Name: congenital dyserythropoietic anaemia type II
• Type: synonym

• Name: Congenital dyserythropoietic anemia type 2
• Type: synonym

• Name: Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
• Type: synonym

• Name: SEC23B-CDG
• Type: synonym

• Name: CDA II
• Type: synonym

• Name: CDA type 2
• Type: synonym

• Name: CDA type II
• Type: synonym

• Name: CDAN2
• Type: synonym

• Name: Congenital dyserythropoietic anaemia type 2
• Type: synonym