loading...| Preferred Name | monogenic diabetes | |
| Synonyms |
monogenic diabetes monogenic diabetes mellitus rare genetic diabetes mellitus |
|
| Definitions |
Diabetes mellitus that is caused by mutations in a single gene. 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001511 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015967 |
|
| database_cross_reference |
Orphanet:183625 MEDGEN:1392102 MedDRA:10075980 NCIT:C129739 UMLS:C3888631 PMID:27474216 PMID:27271189 MONDO:0015967 PMID:27207547 |
|
| definition |
Diabetes mellitus that is caused by mutations in a single gene. 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. |
|
| has_exact_synonym |
monogenic diabetes monogenic diabetes mellitus rare genetic diabetes mellitus |
|
| IAO_0000233 | ||
| id |
EFO:1001511 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#inferred_rare |
|
| label |
monogenic diabetes |
|
| notation |
EFO:1001511 |
|
| preferred label |
monogenic diabetes |
|
| prefLabel |
monogenic diabetes |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C3888631 http://purl.obolibrary.org/obo/EFO_1001511 http://purl.obolibrary.org/obo/NCIT_C129739 |
|
| term editor |
Dani Welter |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0005140 |