loading...| Preferred Name |
Chediak-Higashi syndrome |
| Synonyms |
Chediak - Steinbrinck anomaly |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2935 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:111396008 NCI:C2941 ORDO:167 MESH:D002609 OMIM:214500 UMLS_CUI:C0007965 GARD:6035 ICD10CM:E70.330 |
| 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. |
| has exact synonym |
Chediak - Steinbrinck anomaly CHS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2935 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Chediak-Higashi syndrome |
| notation |
DOID:2935 |
| prefLabel |
Chediak-Higashi syndrome |
| subClassOf |