Dentinogenesis imperfecta, shields type III

Preferred Label : Dentinogenesis imperfecta, shields type III;

CISMeF acronym : DGI-III;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brandywine type dentinogenesis imperfecta; DGI-III;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the dentin sialophosphoprotein gene (DSPP, 125485.0004);

Prefixed ID : #125500;

Details

Origin ID

125500;

UMLS CUI

C0399378;

Broader ORDO disease(s)
- Dentinogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Dentinogenesis imperfecta - Shield's type III (disorder) [SNOMED CT concept]
- Dentinogenesis imperfecta type 3 [ORDO Disease]
- Dentinogenesis imperfecta, shields type 3 [MeSH concept]
- dentinogenesis imperfecta type III [Disease (Nov.)]
- dentinogenesis imperfecta, shields type 3 [MeSH Supplementary Concept]
DO Cross reference
- dentinogenesis imperfecta [DO Concept]
Genes related to phenotype
- Dentin sialophosphoprotein [OMIM gene]
HPO term(s)
- Anterior open-bite malocclusion [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dental enamel pits [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Odontodysplasia [HPO term]
- Periapical bone loss [HPO term]
ORDO concept(s)
- Dentinogenesis imperfecta type 3 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dentinogenesis imperfecta - Shield's type III (disorder) [SNOMED CT concept]
- Dentinogenesis imperfecta type 3 [ORDO Disease]
- Dentinogenesis imperfecta, shields type 3 [MeSH concept]
- dentinogenesis imperfecta type III [Disease (Nov.)]
- dentinogenesis imperfecta, shields type 3 [MeSH Supplementary Concept]

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