Polyposis syndrome, hereditary mixed, 1

Preferred Label : Polyposis syndrome, hereditary mixed, 1;

Symbol : HMPS1;

CISMeF acronym : CRAC1; CRCS4; HMPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 15q13-q14 duplication syndrome, 40-kb; Colorectal adenoma and carcinoma 1; CRAC1;

Included titles and symbols : Colorectal cancer, susceptibility to, 4; Colorectal cancer, susceptibility to, on chromosome 15; CRCS4;

Description : The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). - Genetic Heterogeneity of Hereditary Mixed Polyposis;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by a duplication on chromosome 15q13-q14;

Neoplasia : Inflammatory and metaplastic polyps; Atypical juvenile polyps; Colonic adenomas; Colorectal carcinomas;

Prefixed ID : #601228;

Details

Origin ID

601228;

UMLS CUI

C1832587;

Automatic exact mappings (from CISMeF team)
- GREM1 wt Allele [NCIt concept]
- hereditary mixed polyposis syndrome 1 [DO Concept]
Broader ORDO disease(s)
- Hereditary mixed polyposis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- polyposis syndrome, hereditary mixed, 1 [MeSH concept]
- polyposis syndrome, hereditary mixed, 1 [MeSH Supplementary Concept]
DO Cross reference
- hereditary mixed polyposis syndrome 1 [DO Concept]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Autosomal dominant inheritance [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, 1 [MeSH Supplementary Concept]
- polyposis syndrome, hereditary mixed, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary mixed polyposis syndrome [ORDO Disease]

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