FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	combined cellular and humoral immune defects with granulomas
Synonyms
Definitions	A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12.
ID	http://purl.obolibrary.org/obo/DOID_0112253
definition	A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	combined cellular and humoral immune defects with granulomas
prefixIRI	DOID:0112253
prefLabel	combined cellular and humoral immune defects with granulomas
subClassOf	http://purl.obolibrary.org/obo/DOID_0111962 http://purl.obolibrary.org/obo/DOID_0050737

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0112253	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0112253	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0112253	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0112253	DOID	LOOM
http://purl.bioontology.org/ontology/MESH/C567115	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567115	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_233650	CCO	LOOM
http://identifiers.org/omim/233650	REXO	LOOM
http://identifiers.org/omim/233650	GEXO	LOOM
http://identifiers.org/omim/233650	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0112253	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0112253	NIFSTD	LOOM
http://purl.bioontology.org/ontology/OMIM/233650	OMIM	LOOM