Search Ontology:
Human Disease

Chediak-Higashi syndrome

Term ID
DOID:2935
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
  • MIM:214500
  • NCI:C2941
  • ORDO:167
  • SNOMEDCT_US_2023_03_01:111396008
  • UMLS_CUI:C0007965
Ontology
Human Disease   ( DOID:2935 )
Relationships
is a type of
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Genes Involved
Zebrafish Models