loading...| Preferred Name |
DENTINOGENESIS IMPERFECTA 1 |
| Synonyms |
OPALESCENT DENTIN |
| ID |
http://purl.bioontology.org/ontology/OMIM/125490 |
| altLabel |
OPALESCENT DENTIN OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTA DGI-II DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II CAPDEPONT TEETH DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA DGI1 |
| cui |
C2973527 |
| Gene Locus |
4q21.3 |
| Gene Symbol |
DSPP DFNA39 DTDP2 DGI1 DPP |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018644 http://purl.bioontology.org/ontology/OMIM/MTHU018642 http://purl.bioontology.org/ontology/OMIM/MTHU018646 http://purl.bioontology.org/ontology/OMIM/MTHU036675 http://purl.bioontology.org/ontology/OMIM/MTHU018647 http://purl.bioontology.org/ontology/OMIM/MTHU018645 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
125490 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DENTINOGENESIS IMPERFECTA 1 |
| Scope Statement |
Primary teeth affected greater than secondary teeth [MISCELLANEOUS] Shields classification - [MISCELLANEOUS] Type 2 - hereditary opalescent dentin, not associated with bone defect (125490) [MISCELLANEOUS] Allelic to dentin dysplasia, type 2 (125420) [MISCELLANEOUS] Type 3 - Brandywine isolate opalescent dentin (125500) [MISCELLANEOUS] Type 1 - associated with osteogenesis imperfecta (125490) [MISCELLANEOUS] Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D003811 | Medical Subject Headings / 医学主题词表 | CUI |