Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

maturity-onset diabetes of the young

Synonyms

Mason-type diabetes

Definitions

A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050524

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

GARD:3697

OMIM:606391

KEGG:04950

ICD10CM:E11.8

ORDO:552

definition

A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.

has exact synonym

Mason-type diabetes

MODY

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0050524

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

maturity-onset diabetes of the young

notation

DOID:0050524

prefLabel

maturity-onset diabetes of the young

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_9351

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/606391 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114769 National Cancer Institute Thesaurus LOOM