About: Chediak-Higashi syndrome

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About: Chediak-Higashi syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50951330
label	Chediak-Higashi syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2935
database_cross_reference	GARD:6035 ICD10CM:E70.330 MESH:D002609 NCI:C2941 OMIM:214500 ORDO:167 SNOMEDCT_US_2021_09_01:111396008 UMLS_CUI:C0007965
has_exact_synonym	CHS (en) Chediak - Steinbrinck anomaly (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951331

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