FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	Fanconi anemia complementation group D2
Synonyms
Definitions	A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
ID	http://purl.obolibrary.org/obo/DOID_0111083
definition	A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	Fanconi anemia complementation group D2
prefixIRI	DOID:0111083
prefLabel	Fanconi anemia complementation group D2
subClassOf	http://purl.obolibrary.org/obo/DOID_13636 http://purl.obolibrary.org/obo/DOID_0050737

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111083	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111083	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111083	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009214	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	KTAO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C125706	BERO	LOOM
http://identifiers.org/omim/227646	REXO	LOOM
http://identifiers.org/omim/227646	GEXO	LOOM
http://identifiers.org/omim/227646	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	NIFSTD	LOOM
http://purl.obolibrary.org/obo/OMIM_227646	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/227646	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16023	HRDO	LOOM