Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

diabetes mellitus, transient neonatal, 2
Synonyms

Tndm2

transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8

diabetes mellitus, transient neonatal, type 2

diabetes mellitus, transient neonatal 2

diabetes mellitus, transient neonatal, 2

ABCC8 transient neonatal diabetes mellitus (disease)

Definitions

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0012480

database_cross_reference

OMIM:610374

GARD:15482

MESH:C563672

UMLS:C1835887

SCTID:609580007

definition

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.

exactMatch

https://omim.org/entry/610374

http://identifiers.org/mesh/C563672

http://identifiers.org/snomedct/609580007

http://linkedlifedata.com/resource/umls/id/C1835887

has material basis in germline mutation in

http://identifiers.org/hgnc/59

has_exact_synonym

transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8

diabetes mellitus, transient neonatal, type 2

diabetes mellitus, transient neonatal 2

diabetes mellitus, transient neonatal, 2

ABCC8 transient neonatal diabetes mellitus (disease)

has_related_synonym

Tndm2

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0012480

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

label

diabetes mellitus, transient neonatal, 2

notation

MONDO:0012480

prefLabel

diabetes mellitus, transient neonatal, 2

treeView

http://purl.obolibrary.org/obo/MONDO_0020525

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020525

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