Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

Preferred Label : Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dfna39/dentinogenesis imperfecta 1 syndrome; Dfna39/dgi1 syndrome; Dgi1/dfna39 syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0003);

Prefixed ID : #605594;

Details

Origin ID

605594;

UMLS CUI

C1854146;

Automatic exact mappings (from CISMeF team)
- Dentinogenesis imperfecta type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [MeSH concept]
- deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [MeSH Supplementary Concept]
Genes related to phenotype
- Dentin sialophosphoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Dentinogenesis imperfecta [HPO term]
- High-frequency hearing impairment [HPO term]
- Progressive high-frequency hearing loss [HPO term]
- Tinnitus [HPO term]
ORDO concept(s)
- Dentinogenesis imperfecta type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [MeSH Supplementary Concept]
- deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [MeSH concept]

Keyword's position in hierarchy(ies) :

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