Lynch syndrome 2

Preferred Label : Lynch syndrome 2;

Symbol : LYNCH2;

CISMeF acronym : COCA2; FCC2; HNPCC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FCC2; COCA2; Colon cancer, familial nonpolyposis, type 2; HNPCC2; Colorectal cancer, hereditary nonpolyposis, type 2;

Prefixed ID : #609310;

Details

Origin ID

609310;

UMLS CUI

C1333991;

Automatic exact mappings (from CISMeF team)
- DNA Mismatch Repair Protein Mlh1 [NCIt concept]
- MLH1 wt Allele [NCIt concept]
- mutL homolog 1 [ORDO Gene]
- mutL homolog 1 [HGNC gene]
Broader ORDO disease(s)
- Lynch syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Lynch 2 Syndrome [NCIt concept]
- hereditary nonpolyposis colorectal cancer type 2 [Disease (Nov.)]
- hereditary nonpolyposis colorectal cancer type 2 [DO Concept]
- lynch syndrome II [MeSH concept]
- lynch syndrome II [MeSH Descriptor]
DO Cross reference
- hereditary nonpolyposis colorectal cancer type 2 [DO Concept]
Genes related to phenotype
- Dna mismatch repair protein mlh1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Colon cancer [HPO term]
ORDO concept(s)
- Lynch syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lynch 2 Syndrome [NCIt concept]
- hereditary nonpolyposis colorectal cancer type 2 [Disease (Nov.)]
- lynch syndrome II [MeSH Descriptor]
- lynch syndrome II [MeSH concept]

Keyword's position in hierarchy(ies) :

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