GenTIGSA Gene Database on Rare Genetic Disorders
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Chédiak-Higashi Syndrome  
Disease Aliases (25)

Beguez cesar disease

Béguez césar disease

Chs

Chc)diak-higashi disease

Chc)diak-higashi-steinbrink syndrome

Chediak - steinbrinck anomaly

Chediak higashi syndrome

Chediak steinbrinck higashi syndrome

Chediak anomaly

Chediak-higashi syndrome

Chediak-higashi syndrome; chs

Chediak-steinbrinck anomaly

Chediak-steinbrinck-higashi syndrome

Chediak-steinbrinck-higashi syndromes

Chédiak anomaly

Chédiak-higashi disease

Chédiak-higashi syndrome

Chédiak-higashi-steinbrink syndrome

Chédiak-steinbrinck anomaly

Congenital gigantism of peroxidase granules

Granulation anomaly of leukocytes

Hereditary gigantism of cytoplasmic organelles

Hereditary leukomelanopathy

Oculocutaneous albinism with leukocyte defect

Steinbrinck anomaly

Associated Genes (1)
 

NCBI-RefSeq:  LYST   (Lysosomal trafficking regulator)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Chédiak-Higashi syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations