Dentin dysplasia, type I

Preferred Label : Dentin dysplasia, type I;

Symbol : DTDP1;

CISMeF acronym : DTDP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dentin dysplasia, shields type I; Rootless teeth; Radicular dentin dysplasia;

Included titles and symbols : Dentin dysplasia, type I, with extreme microdontia and misshapen teeth;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the secreted modular calcium-binding protein 2 gene (SMOC2, 607223.0001);

Prefixed ID : #125400;

Details

Origin ID

125400;

UMLS CUI

C0399379;

Automatic exact mappings (from CISMeF team)
- Atypical dentin dysplasia due to SMOC2 deficiency [ORDO Disease]
- Rootless teeth [HPO term]
Broader ORDO disease(s)
- Dentin dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Dentin dysplasia type I [ORDO Disease]
- Dentin dysplasia, type 1 [MeSH concept]
- Dentin dysplasia, type I (disorder) [SNOMED CT concept]
- dentin dysplasia, type 1 [MeSH Supplementary Concept]
DO Cross reference
- dentin dysplasia [DO Concept]
Genes related to phenotype
- Sparc-related modular calcium-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormality of dental morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dentinogenesis imperfecta limited to primary teeth [HPO term]
- Microdontia [HPO term]
- Periapical bone loss [HPO term]
- Pulp obliteration [HPO term]
- Taurodontia [HPO term]
ORDO concept(s)
- Atypical dentin dysplasia due to SMOC2 deficiency [ORDO Disease]
- Dentin dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dentin dysplasia type I [ORDO Disease]
- Dentin dysplasia, type 1 [MeSH concept]
- Dentin dysplasia, type I (disorder) [SNOMED CT concept]
- dentin dysplasia, type 1 [MeSH Supplementary Concept]

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