Details of Disease

General Information of Disease (ID: DISO2RLG)

Disease Name Tooth agenesis, selective, 3
Synonyms hypodontia/oligodontia 3; STHAG3; tooth agenesis, selective, type 3; tooth agenesis caused by mutation in PAX9; PAX9 tooth agenesis; tooth agenesis, selective, 3
Definition Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.
Disease Hierarchy
DIS1PWC7: Tooth agenesis
DISO2RLG: Tooth agenesis, selective, 3
Disease Identifiers
MONDO ID
MONDO_0011477
MESH ID
C567036
UMLS CUI
C1970291
OMIM ID
604625
MedGen ID
410035

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PAX9 OT25J0F7 Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.