WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060063 sideroblastic anemia 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.

1 Ontology

Name
Disease Ontology

11 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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:74 hematopoietic system disease A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
DOID:8955 sideroblastic anemia A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
DOID:11252 microcytic anemia An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.
DOID:2355 anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
DOID:0060063 sideroblastic anemia 1 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:8955 DOID:0060063
is_a DOID:0080012 DOID:0060063
is_a DOID:2355 DOID:0060063
is_a DOID:0050735 DOID:0060063
is_a DOID:7 DOID:0060063
is_a DOID:630 DOID:0060063
is_a DOID:11252 DOID:0060063
is_a DOID:4 DOID:0060063
is_a DOID:0050177 DOID:0060063
is_a DOID:74 DOID:0060063

4 Synonyms

Name Type
sideroblastic anaemia 1 synonym
X-linked sideroblastic anaemia synonym
X-linked sideroblastic anemia synonym
XLSA synonym