Dentinogenesis imperfecta 1

Preferred Label : Dentinogenesis imperfecta 1;

Symbol : DGI1;

CISMeF acronym : DGI-II; DGI1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dentinogenesis imperfecta, shields type II; Opalescent dentin; Capdepont teeth; Dentinogenesis imperfecta without osteogenesis imperfecta; Opalescent teeth without osteogenesis imperfecta; DGI-II;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0001);

Prefixed ID : #125490;

Details

Origin ID

125490;

UMLS CUI

C2973527;

Automatic exact mappings (from CISMeF team)
- Dentinogenesis imperfecta type 1 [ICD-11 More detail]
- Dentinogenesis imperfecta type 2 [ORDO Disease]
- dentinogenesis imperfecta [MeSH Descriptor]
- dentinogenesis imperfecta without osteogenesis imperfecta [MeSH concept]
- symbol withdrawn DGI1 [HGNC gene]
Broader ORDO disease(s)
- Dentinogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- opalescent dentin [MeSH concept]
DO Cross reference
- dentinogenesis imperfecta [DO Concept]
Genes related to phenotype
- Dentin sialophosphoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dentinogenesis imperfecta [HPO term]
ORDO concept(s)
- Dentinogenesis imperfecta type 2 [ORDO Disease]
See also inter- (CISMeF)
- Dentinogenesis imperfecta - Shield's type II (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dentinogenesis imperfecta - Shield's type II (disorder) [SNOMED CT concept]
- Dentinogenesis imperfecta type 2 [ORDO Disease]
- dentinogenesis imperfecta type II [Disease (Nov.)]
- dentinogenesis imperfecta without osteogenesis imperfecta [MeSH concept]
Validated automatic mappings to NTBT
- Dentinogenesis imperfecta [ORDO Disease]

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