Li-Fraumeni syndrome English (Q187542)

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autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata English
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Language Label Description Also known as
English
Li-Fraumeni syndrome
autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata
  • Li-Fraumeni Familiar cancer Susceptibility syndrome
  • SBLA syndrome
  • sarcoma, breast, leukaemia and adrenal gland syndrome
  • Li-Fraumeni Familial Cancer Susceptibility Syndrome
  • Li-Fraumeni Syndrome
  • Li–Fraumeni syndrome
  • Li-Fraumeni

Statements

instance of English
rare disease English
0 references
class of disease English
0 references
subclass of English
autosomal dominant disease English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DOID:3012
rare genetic endocrine disease English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0018875
genetic nervous system disorder English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0018875
hereditary neoplastic syndromes English
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0018875
syndrome English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DOID:3012
disease English
0 references
named after English
Frederick Pei Li English
0 references
Joseph F. Fraumeni, Jr. English
0 references
health specialty English
oncology English
0 references
medical genetics English
0 references
neurology English
1 reference
stated in English
Klinická neurologie část speciální English
prevalence English
0.0002214
1 reference
based on heuristic English
inferred from abstract English
PubMed publication ID English
30352134
ICD-9-CM English
V84.01
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0018875
NCI Thesaurus ID English
C3476
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012

Identifiers

MeSH descriptor ID English
D016864
mapping relation type English
exact match English
subject named as English
Li-Fraumeni Syndrome
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
Mondo ID English
MONDO_0018875
retrieved English
28 July 2018
MeSH tree code English
C04.700.600
0 references
C16.320.700.600
0 references
C18.452.284.520
0 references
KEGG ID English
H00881
0 references
Disease Ontology ID English
DOID:3012
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DOID:3012
DiseasesDB English
eMedicine ID English
Freebase ID English
/m/03yxdr
1 reference
stated in English
Freebase Data Dumps English
publication date English
28 October 2013
GARD rare disease ID English
6902
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012
ICD-10-CM English
D48.9
1 reference
stated in English
Monarch Disease Ontology release 2018-06-29 English
retrieved English
28 July 2018
Mondo ID English
MONDO_0018875
ICD-11 ID (Foundation) English
1968061860
0 references
Microsoft Academic ID English
2910855369
0 references
2777169287
0 references
Mondo ID English
MONDO_0018875
0 references
OMIM ID English
609265
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012
151623
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012
Orphanet ID English
524
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012
UMLS CUI English
C0085390
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
DOID:3012
UniProt disease ID English
DI-01904
0 references
WikiSkripta article ID English
8281
0 references
 
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