| 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. https://www.ncbi.nlm.nih.gov/pubmed/25129365, http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:111396008 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Chediak - Steinbrinck anomaly [EXACT] CHS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |