Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

maturity-onset diabetes of the young type 9

Synonyms

MODY9

Definitions

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.

ID

http://purl.obolibrary.org/obo/DOID_0111107

database_cross_reference

OMIM:612225

definition

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.

disease has basis in

http://purl.obolibrary.org/obo/SO_0001537

has exact synonym

MODY9

has_obo_namespace

disease_ontology

id

DOID:0111107

label

maturity-onset diabetes of the young type 9

notation

DOID:0111107

prefLabel

maturity-onset diabetes of the young type 9

subClassOf

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

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http://purl.bioontology.org/ontology/MESH/C567393 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/612225 Online Mendelian Inheritance in Man LOOM