ZFIN Human Disease: immunodeficiency 13

OBO ID: DOID:0111987

Term Name:	immunodeficiency 13		Search Ontology:
Synonyms:	ICL idiopathic CD4 lymphopenia IMD13
Definition:	A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. https://pubmed.ncbi.nlm.nih.gov/22184408/
References:	GARD:12375 OMIM:615518 ORDO:228000 UMLS_CUI:C3809768
Ontology:	Human Disease ( DOID:0111987 )

Relationships

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

OTHER immunodeficiency 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UNC119	unc119b unc119a	?Immunodeficiency 13	615518

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None