Dentin dysplasia, type II

Preferred Label : Dentin dysplasia, type II;

Symbol : DTDP2;

CISMeF acronym : DTDP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dentin dysplasia, shields type II; Pulpal dysplasia; Coronal dentin dysplasia; Anomalous dysplasia of dentin; Pulp stones;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0005);

Prefixed ID : #125420;

Détails

Origin ID

125420;

UMLS CUI

C0399380;

Automatic exact mappings (from CISMeF team)
- Denticles (disorder) [SNOMED CT concept]
- Pulp calcification [HPO term]
- dental pulp calcification [MeSH Descriptor]
Broader ORDO disease(s)
- Dentin dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Dentin dysplasia type II [ORDO Disease]
- Dentin dysplasia, type II (disorder) [SNOMED CT concept]
- coronal dentin dysplasia [MeSH concept]
DO Cross reference
- dentin dysplasia [DO Concept]
Genes related to phenotype
- Dentin sialophosphoprotein [OMIM gene]
HPO term(s)
- Abnormal dentin morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dentinogenesis imperfecta limited to primary teeth [HPO term]
- Pulp calcification [HPO term]
ORDO concept(s)
- Dentin dysplasia [ORDO Disease]
- Dentin dysplasia type II [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dentin dysplasia type II [ORDO Disease]
- Dentin dysplasia, type II (disorder) [SNOMED CT concept]
- coronal dentin dysplasia [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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