Polyposis syndrome, hereditary mixed, 2

Preferred Label : Polyposis syndrome, hereditary mixed, 2;

Symbol : HMPS2;

CISMeF acronym : HMPS2;

Type : Phenotype, molecular basis known;

Prefixed ID : #610069;

Details

Origin ID

610069;

UMLS CUI

C1864730;

Automatic exact mappings (from CISMeF team)
- hereditary mixed polyposis syndrome 2 [DO Concept]
Broader ORDO disease(s)
- Hereditary mixed polyposis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- polyposis syndrome, hereditary mixed, 2 [MeSH concept]
- polyposis syndrome, hereditary mixed, 2 [MeSH Supplementary Concept]
DO Cross reference
- hereditary mixed polyposis syndrome 2 [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type ia [OMIM gene]
HPO term(s)
- Adenomatous colonic polyposis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Colon cancer [HPO term]
- Hyperplastic colonic polyposis [HPO term]
- Juvenile colonic polyposis [HPO term]
Manual NTBT mappings (CISMeF)
- hereditary mixed polyposis syndrome [Disease (Nov.)]
ORDO concept(s)
- Hereditary mixed polyposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- polyposis syndrome, hereditary mixed, 2 [MeSH Supplementary Concept]
- polyposis syndrome, hereditary mixed, 2 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary mixed polyposis syndrome [ORDO Disease]

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