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Metadata
ID DOID:2935
Name Chediak-Higashi syndrome
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.
http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25129365
Xrefs

GARD:6035

ICD10CM:E70.330

MESH:D002609

NCI:C2941

OMIM:214500

ORDO:167

SNOMEDCT_US_2023_03_01:111396008

UMLS_CUI:C0007965

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Chediak - Steinbrinck anomaly [EXACT]

CHS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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