Preferred Name | Chediak-Higashi syndrome | |
Synonyms |
CHS 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]. |
|
alternative label |
CHS Chediak - Steinbrinck anomaly |
|
database_cross_reference |
UMLS_CUI:C0007965 SNOMEDCT_US_2023_03_01:111396008 MESH:D002609 ICD10CM:E70.330 OMIM:214500 GARD:6035 NCI:C2941 ORDO:167 |
|
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. OMIM mapping confirmed by DO. [SN]. |
|
has exact synonym |
CHS Chediak - Steinbrinck anomaly |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:2935 |
|
in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
label |
Chediak-Higashi syndrome |
|
notation |
DOID:2935 |
|
note |
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]. |
|
preferred label |
Chediak-Higashi syndrome |
|
prefLabel |
Chediak-Higashi syndrome |
|
subClassOf |