Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	complement component 5 deficiency
Synonyms	C5 deficiency
Definitions	A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_8158
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	ORDO:169150 OMIM:609536 MESH:C537005 NCI:C9469
definition	A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.
has exact synonym	C5 deficiency
has_obo_namespace	disease_ontology
id	DOID:8158
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	complement component 5 deficiency
notation	DOID:8158
prefLabel	complement component 5 deficiency
subClassOf	http://purl.obolibrary.org/obo/DOID_626

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/609536	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C537005	Medical Subject Headings	LOOM