loading...| Preferred Name |
Chediak-Higashi syndrome |
| Synonyms |
Chediak - Steinbrinck anomaly |
| Definitions |
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2935 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C2941 ORDO:167 MESH:D002609 SNOMEDCT_US_2020_03_01:111396008 OMIM:214500 UMLS_CUI:C0007965 GARD:6035 ICD10CM:E70.330 |
| has exact synonym |
Chediak - Steinbrinck anomaly CHS |
| id |
DOID:2935 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
Chediak-Higashi syndrome |
| notation |
DOID:2935 |
| prefLabel |
Chediak-Higashi syndrome |
| textual definition |
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |