Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

T-B+ severe combined immunodeficiency

Synonyms

T-cell negative B-cell positive SCID

T-B+ SCID

Definitions

T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.

ID

http://purl.obolibrary.org/obo/MONDO_0044200

database_cross_reference

Orphanet:317416

GARD:21405

definition

T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_317416

has_exact_synonym

T-cell negative B-cell positive SCID

T-B+ SCID

id

MONDO:0044200

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

T-B+ severe combined immunodeficiency

notation

MONDO:0044200

prefLabel

T-B+ severe combined immunodeficiency

disjointWith

http://purl.obolibrary.org/obo/MONDO_0044201

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015974

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