Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Fanconi anemia complementation group V
Synonyms	FANCV
Definitions	A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.
ID	http://purl.obolibrary.org/obo/DOID_0111080
database_cross_reference	OMIM:617243
definition	A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.
has exact synonym	FANCV
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111080
label	Fanconi anemia complementation group V
notation	DOID:0111080
prefLabel	Fanconi anemia complementation group V
subClassOf	http://purl.obolibrary.org/obo/DOID_13636 http://purl.obolibrary.org/obo/DOID_0050737

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/617243	Online Mendelian Inheritance in Man	LOOM