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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Dentinogenesis imperfecta
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Accession:HP:0000703 term browser browse the term
Definition:Developmental dysplasia of dentin.
Comment:This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
Synonyms:xref: MESH:D003811;   SNOMEDCT_US:196286005;   UMLS:C0011436



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Dentinogenesis imperfecta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:536467 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:166200 OMIM:166220 OMIM:259420
ClinVar Annotator: match by term: Dentinogenesis imperfecta
HPO
ClinVar
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:166220 OMIM:259420
ClinVar Annotator: match by term: Dentinogenesis imperfecta
HPO
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G DSPP dentin sialophosphoprotein IAGP OMIM:125490 OMIM:125500 OMIM:605594 HPO NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP OMIM:610968 HPO NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP OMIM:619269 HPO NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
JBrowse link
G PPIB peptidylprolyl isomerase B IAGP OMIM:259440 HPO NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP OMIM:616294 HPO NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SERPINH1 serpin family H member 1 IAGP OMIM:613848 HPO NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 ORPHA:166272 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G ZNF469 zinc finger protein 469 IAGP OMIM:229200 HPO NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Dentinogenesis imperfecta limited to primary teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP OMIM:125420 HPO NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP OMIM:125400 HPO NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
JBrowse link
Odontodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP OMIM:125500
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS
HPO
RGD
PMID:15690376 RGD:12911015 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP ORPHA:89936 HPO NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of the musculoskeletal system 4085
        Abnormality of the skeletal system 3357
          Abnormal odontoid tissue morphology 224
            Dentinogenesis imperfecta 13
              Dentinogenesis imperfecta limited to primary teeth 2
              Dentinogenesis imperfecta of primary and permanent teeth 0
              Odontodysplasia 2
Path 2
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of head or neck 3289
        Abnormality of the head 3257
          Abnormality of the face 2948
            Abnormality of the mouth 2189
              Abnormal oral morphology 2107
                Abnormal oral cavity morphology 2083
                  Abnormality of the dentition 959
                    Abnormality of dental structure 334
                      Abnormal dentin morphology 14
                        Dentinogenesis imperfecta 13
                          Dentinogenesis imperfecta limited to primary teeth 2
                          Dentinogenesis imperfecta of primary and permanent teeth 0
                          Odontodysplasia 2
paths to the root