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Mondo Disease Ontology
| Preferred Name | maturity-onset diabetes of the young type 3 | |
| Synonyms |
MODY hepatocyte nuclear factor-1-alpha related maturity-onset diabetes of the young, type 3 diabetes mellitus MODY type 3 MODY, type 3 type 3 maturity-onset diabetes of the young MODY, type III HNF1A maturity-onset diabetes of the young (disease) HNF1A-associated monogenic diabetes maturity-onset diabetes of the young (disease) caused by mutation in HNF1A MODY type 3 hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes MODY3 maturity-onset diabetes of the young type 3 |
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| Definitions |
Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010894 |
|
| database_cross_reference |
UMLS:C1838100 SCTID:609570008 OMIM:600496 GARD:10658 MEDGEN:324942 NANDO:2201071 MESH:C563933 NCIT:C129742 DOID:0111102
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|
| definition |
Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
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|
| excluded_from_qc_check |
http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql |
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| has_exact_synonym |
MODY, type III HNF1A maturity-onset diabetes of the young (disease) HNF1A-associated monogenic diabetes maturity-onset diabetes of the young (disease) caused by mutation in HNF1A MODY type 3 hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes MODY3 maturity-onset diabetes of the young type 3
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|
| has_related_synonym |
MODY hepatocyte nuclear factor-1-alpha related maturity-onset diabetes of the young, type 3 diabetes mellitus MODY type 3 MODY, type 3 type 3 maturity-onset diabetes of the young
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| IAO_0000233 | ||
| id |
MONDO:0010894
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
maturity-onset diabetes of the young type 3
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|
| notation |
MONDO:0010894
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| prefLabel |
maturity-onset diabetes of the young type 3
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C129742 http://purl.obolibrary.org/obo/DOID_0111102 http://linkedlifedata.com/resource/umls/id/C1838100 http://identifiers.org/mesh/C563933 |
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