Maturity-onset diabetes of the young, type 8, with exocrine dysfunction

Preferred Label : Maturity-onset diabetes of the young, type 8, with exocrine dysfunction;

Symbol : MODY8;

CISMeF acronym : DPED; MODY8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes and pancreatic exocrine dysfunction; Diabetes-pancreatic exocrine dysfunction syndrome; DPED;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the carboxyl-ester lipase gene (CEL, 114840.0001);

Prefixed ID : #609812;

Détails

Origin ID

609812;

UMLS CUI

C1853297;

Automatic exact mappings (from CISMeF team)
- 7,14-dihydroxypregn-4-ene-3,20-dione [MeSH concept]
- 7,14-dihydroxypregn-4-ene-3,20-dione [MeSH Supplementary Concept]
- MODY [ORDO Disease]
- carboxyl ester lipase [ORDO Gene]
- carboxyl ester lipase [HGNC gene]
Broader ORDO disease(s)
- MODY [ORDO Disease]
Currated CISMeF NLP mapping
- Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction [MeSH concept]
- Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 8 (disorder) [SNOMED CT concept]
- maturity-onset diabetes of the young type 8 [DO Concept]
DO Cross reference
- maturity-onset diabetes of the young type 8 [DO Concept]
False automatic mappings
- Dipivefrine hydrochloride (substance) [SNOMED CT concept]
Genes related to phenotype
- Carboxyl-ester lipase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormality of exocrine pancreas physiology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Maturity-onset diabetes of the young [HPO term]
ORDO concept(s)
- MODY [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction [MeSH Supplementary Concept]
- Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction [MeSH concept]
- Maturity-onset diabetes of the young, type 8 (disorder) [SNOMED CT concept]
- maturity-onset diabetes of the young type 8 [DO Concept]

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