ZFIN Human Disease: immunodeficiency 25

OBO ID: DOID:0111942

Term Name:	immunodeficiency 25		Search Ontology:
Synonyms:	IMD25 immunodeficiency due to defect in CD3-zeta
Definition:	A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. https://pubmed.ncbi.nlm.nih.gov/16672702/
References:	MESH:C565712 OMIM:610163 UMLS_CUI:C1857798
Ontology:	Human Disease ( DOID:0111942 )

Relationships

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

OTHER immunodeficiency 25 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CD247	cd247	?Immunodeficiency 25	610163

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None