FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Chediak-Higashi syndrome ID (Ontology) DOID:2935 (Human Disease)
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.
Also Known As "Chediak - Steinbrinck anomaly" ; "CHS"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Chediak-Higashi syndrome       5      2      1
 ameliorates | Chediak-Higashi syndrome       1       --       --
 for disease ribbon | Chediak-Higashi syndrome       --       1       --
 model of | Chediak-Higashi syndrome       4      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Chediak-Higashi syndrome  8 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Chediak - Steinbrinck anomaly" EXACT
    "CHS" EXACT OMO:0003012
Secondary IDs
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GARD:6035
ICD10CM:E70.330
MESH:D002609
MIM:214500
NCI:C2941
ORDO:167
SNOMEDCT_US_2023_03_01:111396008
UMLS_CUI:C0007965