ZFIN Human Disease: Chediak-Higashi syndrome

OBO ID: DOID:2935

Term Name:	Chediak-Higashi syndrome		Search Ontology:
Synonyms:	Chediak - Steinbrinck anomaly CHS
Definition:	A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (2)
References:	GARD:6035 ICD10CM:E70.330 MESH:D002609 NCI:C2941 OMIM:214500 ORDO:167 SNOMEDCT_US_2023_03_01:111396008 UMLS_CUI:C0007965
Ontology:	Human Disease ( DOID:2935 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Chediak-Higashi syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LYST	lyst	Chediak-Higashi syndrome	214500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None