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_2022_03_01:111396008
  • UMLS_CUI:C0007965
Ontology: Human Disease   (DOID:2935)
OTHER Chediak-Higashi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LYST Chediak-Higashi syndrome 214500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None