Chediak-Higashi Syndrome
Disease ID: disease_node_2023
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| Dbxref | GARD:6035, ICD10CM:E70.330, MESH:D002609, MIM:214500, NCI:C2941, ORDO:167, SNOMEDCT_US_2023_03_01:111396008, UMLS_CUI:C0007965 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | CHS, Chediak - Steinbrinck anomaly |
| Mesh Id | D002609 |
| Mesh Label | Chediak-Higashi Syndrome |
| Mesh Subclassof | D010585, D000081207, D000417 |
| Doid Label | Chediak-Higashi syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_2023 |
| Doid Id | DOID_2935 |
| Label | Chediak-Higashi Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)