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
• NCI:C2941
• OMIM:214500
• ORDO:167
• SNOMEDCT_US_2023_03_01:111396008
• UMLS_CUI:C0007965

Ontology

Human Disease   ( DOID:2935 )