ZFIN Human Disease: immunodeficiency 49

OBO ID: DOID:0111979

Term Name:	immunodeficiency 49		Search Ontology:
Synonyms:	IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
Definition:	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. (2)
References:	OMIM:617237 UMLS_CUI:C4310656
Ontology:	Human Disease ( DOID:0111979 )

Relationships

is a type of:	autosomal dominant disease T cell deficiency autosomal dominant disease T cell deficiency Show first 5 Terms

OTHER immunodeficiency 49 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BCL11B	bcl11bb bcl11ba	Immunodeficiency 49, severe combined	617237

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None