Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Combined immunodeficiency

Synonyms
Definitions

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

ID

http://purl.obolibrary.org/obo/HP_0005387

database_cross_reference

UMLS:C0494261

definition

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

id

HP:0005387

label

Combined immunodeficiency

notation

HP:0005387

prefLabel

Combined immunodeficiency

subClassOf

http://purl.obolibrary.org/obo/HP_0002721

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