WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0051008 congenital nonspherocytic hemolytic anemia 9 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.

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:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
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: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:589 congenital hemolytic anemia  
DOID:2861 congenital nonspherocytic hemolytic anemia  
DOID:0051008 congenital nonspherocytic hemolytic anemia 9 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.

13 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080012 DOID:0051008
is_a DOID:2861 DOID:0051008
is_a DOID:589 DOID:0051008
is_a DOID:4 DOID:0051008
is_a DOID:7 DOID:0051008
is_a DOID:720 DOID:0051008
is_a DOID:0050177 DOID:0051008
is_a DOID:74 DOID:0051008
is_a DOID:0080015 DOID:0051008
is_a DOID:2355 DOID:0051008
is_a DOID:630 DOID:0051008
is_a DOID:0050735 DOID:0051008
is_a DOID:583 DOID:0051008

0 Synonyms