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