loading...| Preferred Name | DENTINOGENESIS IMPERFECTA 1 | |
| Synonyms |
CAPDEPONT TEETH OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTA DGI1 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA OPALESCENT DENTIN DGI-II |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/125490 |
|
| altLabel |
CAPDEPONT TEETH OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTA DGI1 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA OPALESCENT DENTIN DGI-II |
|
| cui |
C2973527 |
|
| Gene Locus |
4q21.3 |
|
| Gene Symbol |
DSPP DGI1 DFNA39 DPP DTDP2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018645 http://purl.bioontology.org/ontology/OMIM/MTHU018647 http://purl.bioontology.org/ontology/OMIM/MTHU018644 http://purl.bioontology.org/ontology/OMIM/MTHU018643 http://purl.bioontology.org/ontology/OMIM/MTHU018646 http://purl.bioontology.org/ontology/OMIM/MTHU018626 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
125490 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DENTINOGENESIS IMPERFECTA 1 |
|
| Scope Statement |
Type 3 - Brandywine isolate opalescent dentin (125500) [MISCELLANEOUS] Primary teeth affected greater than secondary teeth [MISCELLANEOUS] Allelic to dentin dysplasia, type 2 (125420) [MISCELLANEOUS] Type 2 - hereditary opalescent dentin, not associated with bone defect (125490) [MISCELLANEOUS] Type 1 - associated with osteogenesis imperfecta (125490) [MISCELLANEOUS] Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0001) [MOLECULAR BASIS] Shields classification - [MISCELLANEOUS] |
|
| tui |
T047 |