Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

type 1 diabetes mellitus 20
Synonyms

diabetes mellitus, insulin-dependent, 20

insulin-dependent diabetes mellitus 20

diabetes mellitus, insulin-dependent, type 20

type 1 diabetes mellitus caused by mutation in HNF1A

HNF1A type 1 diabetes mellitus

IDDM20

Definitions

An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.

ID

http://purl.obolibrary.org/obo/MONDO_0012919

database_cross_reference

OMIM:612520

MESH:C567286

UMLS:C2675866

DOID:0110757

MEDGEN:382706

definition

An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.

has_exact_synonym

insulin-dependent diabetes mellitus 20

diabetes mellitus, insulin-dependent, type 20

type 1 diabetes mellitus caused by mutation in HNF1A

HNF1A type 1 diabetes mellitus

IDDM20

has_related_synonym

diabetes mellitus, insulin-dependent, 20

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5033

id

MONDO:0012919

label

type 1 diabetes mellitus 20

notation

MONDO:0012919

prefLabel

type 1 diabetes mellitus 20

skos_exactMatch

https://omim.org/entry/612520

http://linkedlifedata.com/resource/umls/id/C2675866

http://purl.obolibrary.org/obo/DOID_0110757

http://identifiers.org/medgen/382706

http://identifiers.org/mesh/C567286

terms_conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/susceptibility_by_gene.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0010255

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005147

subClassOf

http://purl.obolibrary.org/obo/MONDO_0010255

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