OBO ID: DOID:2935
Term Name: Chediak-Higashi syndrome Search Ontology:
Synonyms:
  • Chediak - Steinbrinck anomaly
  • CHS
Definition: An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene. (2)
References:
Ontology: Human Disease   (DOID:2935)
Relationships
is a type of:
OTHER Chediak-Higashi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LYST Chediak-Higashi syndrome 214500
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None