Tooth agenesis, selective, X-linked, 1

Preferred Label : Tooth agenesis, selective, X-linked, 1;

Symbol : STHAGX1;

CISMeF acronym : STHAGX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypodontia/oligodontia, X-linked, 1;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ectodysplasin A gene (EDA, 300451.0014);

Prefixed ID : #313500;

Details

Origin ID

313500;

UMLS CUI

C1970757;

Automatic exact mappings (from CISMeF team)
- EDA wt Allele [NCIt concept]
- Hypodontia [ORDO Disease]
- Oligodontia [ORDO Disease]
- anodontia [MeSH Descriptor]
Broader ORDO disease(s)
- Hypodontia [ORDO Disease]
Currated CISMeF NLP mapping
- X linked selective tooth agenesis 1 [Disease (Nov.)]
- tooth agenesis, selective, X-Linked, 1 [MeSH concept]
- tooth agenesis, selective, X-Linked, 1 [MeSH Supplementary Concept]
DO Cross reference
- tooth agenesis [DO Concept]
Genes related to phenotype
- Ectodysplasin a [OMIM gene]
HPO term(s)
- Agenesis of lateral incisor [HPO term]
- Agenesis of molar [HPO term]
- Agenesis of premolar [HPO term]
- Anodontia [HPO term]
- Aplasia of the maxilla [HPO term]
- Hypodontia [HPO term]
- Oligodontia [HPO term]
- Selective tooth agenesis [HPO term]
- Tooth agenesis [HPO term]
- X-linked dominant inheritance [HPO term]
Not associated HPO term(s)
- Abnormality of dental morphology [HPO term]
- Heat intolerance [HPO term]
- Respiratory tract infection [HPO term]
ORDO concept(s)
- Hypodontia [ORDO Disease]
- Oligodontia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X linked selective tooth agenesis 1 [Disease (Nov.)]
- tooth agenesis, selective, X-Linked, 1 [MeSH Supplementary Concept]
- tooth agenesis, selective, X-Linked, 1 [MeSH concept]

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