Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

maturity-onset diabetes of the young
Synonyms

MODY

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

ICD10CM:E11.8

GARD:3697

KEGG:04950

MIM:606391

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

MODY

Mason-type diabetes

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_9351

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050524 FRMO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050524 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018911 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C114769 BERO LOOM
http://nanbyodata.jp/ontology/NANDO_2200462 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00006368 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_0050524 FRMO LOOM
http://purl.obolibrary.org/obo/DOID_0050524 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050524 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050524 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050524 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050524 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050524 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU069943 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0004904 HP LOOM
http://purl.obolibrary.org/obo/HP_0004904 UPHENO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10026948 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/606391 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114769 NCIT LOOM
urn:agi-folder:maturity_onset_diabetes_of_the_young BPT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/609561005 SNOMEDCT LOOM