Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Li-Fraumeni syndrome 1
Synonyms	LFS1
Definitions	A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.
ID	http://purl.obolibrary.org/obo/DOID_0111503
database_cross_reference	OMIM:151623
definition	A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.
has exact synonym	LFS1
has_obo_namespace	disease_ontology
id	DOID:0111503
label	Li-Fraumeni syndrome 1
notation	DOID:0111503
prefLabel	Li-Fraumeni syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_3012

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/151623	Online Mendelian Inheritance in Man	LOOM