Preferred Name

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Synonyms

monogenic diabetes mellitus

monogenic diabetes

rare genetic diabetes mellitus

Definitions

Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood. Diabetes mellitus that is caused by mutations in a single gene.

ID

http://www.ebi.ac.uk/efo/EFO_1001511

database_cross_reference

MedDRA:10075980

PMID:27474216

PMID:27271189

PMID:27207547

MONDO:0015967

GARD:20312

NCIT:C129739

Orphanet:183625

definition

Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood.

Diabetes mellitus that is caused by mutations in a single gene.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C129739

http://purl.obolibrary.org/obo/Orphanet_183625

has_exact_synonym

monogenic diabetes mellitus

monogenic diabetes

rare genetic diabetes mellitus

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/254

id

EFO:1001511

in_subset

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

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

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

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

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

label

monogenic diabetes

notation

EFO:1001511

term editor

Dani Welter

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005140

http://www.ebi.ac.uk/efo/EFO_0000400

http://purl.obolibrary.org/obo/MONDO_0019052

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