ZFIN Human Disease: X-linked hyper IgM syndrome

OBO ID: DOID:6620

Term Name:	X-linked hyper IgM syndrome		Search Ontology:
Synonyms:	HIGM1 hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM type 1 X-linked hyper-IgM immunodeficiency XHIM
Definition:	A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome
References:	GARD:73 MESH:D053307 NCI:C158531 OMIM:308230 ORDO:101088 SNOMEDCT_US_2023_03_01:403835002 UMLS_CUI:C0398689
Ontology:	Human Disease ( DOID:6620 )

Relationships

is a type of:	hyper IgM syndrome X-linked recessive disease hyper IgM syndrome X-linked recessive disease Show first 5 Terms

OTHER X-linked hyper IgM syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CD40LG	cd40lg	Immunodeficiency, X-linked, with hyper-IgM	308230

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None