Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Fanconi anemia complementation group R
Synonyms	FANCR
Definitions	A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
ID	http://purl.obolibrary.org/obo/DOID_0111090
database_cross_reference	OMIM:617244
definition	A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.
has exact synonym	FANCR
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111090
label	Fanconi anemia complementation group R
notation	DOID:0111090
prefLabel	Fanconi anemia complementation group R
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_13636

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/617244	Online Mendelian Inheritance in Man	LOOM