Maturity-onset diabetes of the young, type 14

Preferred Label : Maturity-onset diabetes of the young, type 14;

Symbol : MODY14;

CISMeF acronym : MODY14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the adaptor protein, phosphotyrosine interaction, pH domain, and leucine zipper-containing protein-1 gene (APPL1, 604299.0001);

Laboratory abnormalities : Elevated HbA1c glycated hemoglobin;

Prefixed ID : #616511;

Détails

Origin ID

616511;

UMLS CUI

C4225299;

CISMeF manual mappings
- maturity-onset diabetes of the young type 14 [DO Concept]
DO Cross reference
- maturity-onset diabetes of the young type 14 [DO Concept]
Genes related to phenotype
- Adaptor protein, phosphotyrosine interaction, ph domain, and leucine zipper-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [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 14 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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