Diabetes mellitus, transient neonatal, 3

Preferred Label : Diabetes mellitus, transient neonatal, 3;

CISMeF acronym : TNDM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TNDM3;

Included titles and symbols : Diabetes mellitus, type II, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member-11 gene (KCNJ11, 600937.0002);

Laboratory abnormalities : Elevated hemoglobin A1c (HbA1c); Hyperglycemia;

Prefixed ID : #610582;

Détails

Origin ID

610582;

UMLS CUI

C1864623;

Automatic exact mappings (from CISMeF team)
- Diabetes mellitus, transient neonatal 3 (disorder) [SNOMED CT concept]
- Maturity onset diabetes of the young, type 2 (disorder) [SNOMED CT concept]
- Maturity-Onset diabetes of the young, type 2 [MeSH Supplementary Concept]
- Transient neonatal diabetes mellitus [ORDO Disease]
Broader ORDO disease(s)
- Transient neonatal diabetes mellitus [ORDO Disease]
Currated CISMeF NLP mapping
- diabetes mellitus, transient neonatal, 3 [MeSH concept]
- diabetes mellitus, transient neonatal, 3 [MeSH Supplementary Concept]
DO Cross reference
- transient neonatal diabetes mellitus [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated hemoglobin A1c [HPO term]
- Hyperglycemia [HPO term]
- Maternal diabetes [HPO term]
- Neonatal onset [HPO term]
- Transient neonatal diabetes mellitus [HPO term]
ORDO concept(s)
- Transient neonatal diabetes mellitus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes mellitus, transient neonatal 3 (disorder) [SNOMED CT concept]
- diabetes mellitus, transient neonatal, 3 [MeSH Supplementary Concept]
- diabetes mellitus, transient neonatal, 3 [MeSH concept]

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