Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	LI-FRAUMENI SYNDROME 1
Synonyms	LFS1
ID	http://purl.bioontology.org/ontology/OMIM/151623
altLabel	LFS1 LFL SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI
cui	C2675080 C1835398
Gene Locus	17p13.1
Gene Symbol	LFS1 BCC7 TP53 P53
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017027 http://purl.bioontology.org/ontology/OMIM/MTHU017413 http://purl.bioontology.org/ontology/OMIM/MTHU017418 http://purl.bioontology.org/ontology/OMIM/MTHU017416 http://purl.bioontology.org/ontology/OMIM/MTHU017414 http://purl.bioontology.org/ontology/OMIM/MTHU015030 http://purl.bioontology.org/ontology/OMIM/MTHU026562 http://purl.bioontology.org/ontology/OMIM/MTHU017421 http://purl.bioontology.org/ontology/OMIM/MTHU017046 http://purl.bioontology.org/ontology/OMIM/MTHU006873 http://purl.bioontology.org/ontology/OMIM/MTHU017415 http://purl.bioontology.org/ontology/OMIM/MTHU017419 http://purl.bioontology.org/ontology/OMIM/MTHU017422 http://purl.bioontology.org/ontology/OMIM/MTHU017412 http://purl.bioontology.org/ontology/OMIM/MTHU026561 http://purl.bioontology.org/ontology/OMIM/MTHU027193 http://purl.bioontology.org/ontology/OMIM/MTHU017417
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	151623
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LI-FRAUMENI SYNDROME 1
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C538639	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/DOID_0111503	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C567189	Medical Subject Headings	CUI