WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
Paste the following link
Lists
This DiseaseOntology isn't in any lists. Upload a list.

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: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:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
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:10241 thalassemia A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
DOID:1099 alpha thalassemia A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.

13 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0060388 DOID:0110029
is_a DOID:1099 DOID:0110029
is_a DOID:7 DOID:0110029
is_a DOID:0050737 DOID:0110029
is_a DOID:630 DOID:0110029
is_a DOID:4 DOID:0110029
is_a DOID:0050739 DOID:0110029
is_a DOID:2355 DOID:0110029
is_a DOID:11252 DOID:0110029
is_a DOID:0050177 DOID:0110029
is_a DOID:0080014 DOID:0110029
is_a DOID:10241 DOID:0110029
is_a DOID:74 DOID:0110029

8 Synonyms

Name Type
alpha thalassemia-intellectual disability syndrome, deletion type synonym
alpha thalassemia-retardation syndrome synonym
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 synonym
alpha-thalassemia/mental retardation syndrome, deletion-type synonym
alpha-thalassemia/mental retardation syndrome, type 1 synonym
ATR syndrome linked to chromosome 16 synonym
ATR syndrome, deletion type synonym
ATR-16 syndrome synonym