WormMine: DiseaseOntology DOID:0111979 immunodeficiency 49 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.

1 Ontology

• Name: Disease Ontology

10 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:2914	immune system disease	A disease of anatomical entity that is located_in the immune system.
DOID:612	primary immunodeficiency disease	An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
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:11200	T cell deficiency	A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
DOID:0111979	immunodeficiency 49	A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.

9 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:11200	DOID:0111979
is_a	DOID:0050736	DOID:0111979
is_a	DOID:2914	DOID:0111979
is_a	DOID:612	DOID:0111979
is_a	DOID:4	DOID:0111979
is_a	DOID:0050177	DOID:0111979
is_a	DOID:0050739	DOID:0111979
is_a	DOID:7	DOID:0111979
is_a	DOID:630	DOID:0111979

3 Synonyms

• Name: IMD49
• Type: synonym

• Name: SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
• Type: synonym

• Name: severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
• Type: synonym