tooth agenesis, selective, 3
MONDO:0011477Mondo
Findings
No curated finding names tooth agenesis, selective, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.
Definition from the Mondo Disease Ontology (MONDO:0011477), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of permanent molarHPOHP:0011055
- 16 of 16 reported patients
- OligodontiaHPOHP:0000677
- 16 of 16 reported patients
- Abnormal fingernail morphologyHPOHP:0001231
- 0 of 5 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 5 reported patients
- Abnormal skin morphologyHPOHP:0011121
- 0 of 5 reported patients
- AnhidrosisHPOHP:0000970
- 0 of 5 reported patients
- Oligodontia of primary teethHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PAX9HGNC:8623
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: tooth agenesis, selective, 3
- Also called
- hypodontia/oligodontia 3PAX9 tooth agenesisPAX9-related selective tooth agenesisSTHAG3tooth agenesis caused by mutation in PAX9tooth agenesis, selective, type 3