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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dentinogenesis imperfecta
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Accession:DOID:4154 term browser browse the term
Definition:An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
Synonyms:exact_synonym: DGI-II;   DGI1;   Dentinogenesis Imperfecta 1;   Dentinogenesis Imperfecta without Osteogenesis Imperfecta;   Dentinogenesis Imperfecta, Shields Type 2;   Dentinogenesis Imperfecta, Shields Type Ii;   Hereditary Opalescent Dentin;   OPALESCENT DENTIN;   capdepont teeth;   opalescent teeth without osteogenesis imperfecta
 primary_id: MESH:D003811
 alt_id: OMIM:125490
 xref: GARD:6258;   NCI:C84667;   ORDO:49042
For additional species annotation, visit the Alliance of Genome Resources.



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dentinogenesis imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar
RGD
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... RGD:11571615 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:11317364 PMID:17078022 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
DNA:snp:intron:g.87612175G>A (human)
ClinVar
OMIM
RGD
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 More... RGD:734904, RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
OMIM
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
OMIM
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More... RGD:12911015 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Goldblatt syndrome OMIM
ClinVar
PMID:20089971 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I OMIM
ClinVar
PMID:1445258 PMID:1634225 PMID:1737847 PMID:1770532 PMID:1867198 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:458828 PMID:1642148 PMID:1990009 PMID:2010058 PMID:2824475 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Stomatognathic Diseases 1148
      tooth disease 296
        dentinogenesis imperfecta 10
          Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
          Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
          Dentinogenesis Imperfecta, Shields Type 3 1
          Odontochondrodysplasia 1 1
          Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
          osteogenesis imperfecta type 1 7
          osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                dentinogenesis imperfecta 10
                  Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
                  Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
                  Dentinogenesis Imperfecta, Shields Type 3 1
                  Odontochondrodysplasia 1 1
                  Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
                  osteogenesis imperfecta type 1 7
                  osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
paths to the root