Maturity-onset diabetes of the young, type 11

Preferred Label : Maturity-onset diabetes of the young, type 11;

Symbol : MODY11;

CISMeF acronym : MODY11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BLK protooncogene, SRC family tyrosinase kinase gene (BLK, 191305.0001);

Prefixed ID : #613375;

Details

Origin ID

613375;

UMLS CUI

C3150618;

Automatic exact mappings (from CISMeF team)
- MODY [ORDO Disease]
Currated CISMeF NLP mapping
- Maturity-onset diabetes of the young, type 11 (disorder) [SNOMED CT concept]
- maturity-onset diabetes of the young type 11 [DO Concept]
DO Cross reference
- maturity-onset diabetes of the young type 11 [DO Concept]
Genes related to phenotype
- Blk protooncogene, src family tyrosine kinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Maturity-onset diabetes of the young [HPO term]
- Obesity [HPO term]
- Overweight [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 11 (disorder) [SNOMED CT concept]
- maturity-onset diabetes of the young type 11 [DO Concept]

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