dentinogenesis imperfecta
Information
- Disease name
- dentinogenesis imperfecta
- Disease ID
- DOID:4154
- Description
- "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22." [url:https\://pubmed.ncbi.nlm.nih.gov/19021896/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04927962 | Recruiting | Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta | September 22, 2021 | June 2023 | |
| NCT03810859 | Unknown status | N/A | Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants | October 9, 2019 | September 15, 2022 |
- Disase is a (Disease Ontology)
- DOID:1091
- Cross Reference ID (Disease Ontology)
- GARD:6258
- Cross Reference ID (Disease Ontology)
- ICD10CM:K00.5
- Cross Reference ID (Disease Ontology)
- MESH:D003811
- Cross Reference ID (Disease Ontology)
- MIM:125490
- Cross Reference ID (Disease Ontology)
- MIM:125500
- Cross Reference ID (Disease Ontology)
- NCI:C84667
- Cross Reference ID (Disease Ontology)
- ORDO:49042
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:367461002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0011436
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0000703
- OrphaNumber from OrphaNet (Orphanet)
- 49042
- MeSH unique ID (MeSH (Medical Subject Headings))
- D003811