Tooth agenesis, selective, 3

Preferred Label : Tooth agenesis, selective, 3;

Symbol : STHAG3;

CISMeF acronym : STHAG3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypodontia/oligodontia 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box gene 9 (PAX9, 176416);

Prefixed ID : #604625;

Details

Origin ID

604625;

UMLS CUI

C1970291;

Automatic exact mappings (from CISMeF team)
- Hypodontia [ORDO Disease]
- Oligodontia [ORDO Disease]
Broader ORDO disease(s)
- Hypodontia [ORDO Disease]
Currated CISMeF NLP mapping
- tooth agenesis, selective, 3 [MeSH concept]
- tooth agenesis, selective, 3 [MeSH Supplementary Concept]
DO Cross reference
- tooth agenesis [DO Concept]
Genes related to phenotype
- Paired box gene 9 [OMIM gene]
HPO term(s)
- Abnormal fingernail morphology [HPO term]
- Abnormal hair morphology [HPO term]
- Abnormality of skin morphology [HPO term]
- Agenesis of permanent molar [HPO term]
- Anhidrosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Juvenile onset [HPO term]
- Microdontia [HPO term]
- Oligodontia [HPO term]
- Oligodontia of primary teeth [HPO term]
ORDO concept(s)
- Hypodontia [ORDO Disease]
- Oligodontia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- tooth agenesis, selective, 3 [MeSH Supplementary Concept]
- tooth agenesis, selective, 3 [MeSH concept]

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