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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: SNOMEDCT_US:196286005;   UMLS:C0011436


show annotations for term's descendants           Sort by:
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 HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO MIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO MIM:619795 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... MIM:166200 MIM:166220 MIM:259420 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 ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... MIM:166220 MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO MIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar
HPO		 PMID:22392858 PMID:25741868 PMID:26788535 MIM:125490 MIM:125500 MIM:605594 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 HPO MIM:610968 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO MIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:301014 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO MIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO MIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO MIM:259440 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 HPO MIM:616294 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO MIM:613982 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO MIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO MIM:615066 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO MIM:184260 ORPHA:166272 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 HPO MIM:229200 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 HPO MIM:125420 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
Odontodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS HPO
RGD		 PMID:15690376 MIM:125500, 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 HPO ORPHA:89936 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 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of the skeletal system 4650
          Abnormal odontoid tissue morphology 247
            Dentinogenesis imperfecta 24
              Dentinogenesis imperfecta limited to primary teeth 1
              Dentinogenesis imperfecta of primary and permanent teeth 0
              Odontodysplasia 2
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of head or neck 4077
        Abnormality of the head 4048
          Abnormality of the face 3636
            Abnormality of the mouth 2778
              Abnormal oral morphology 2687
                Abnormal oral cavity morphology 2663
                  Abnormality of the dentition 1296
                    Abnormality of dental structure 522
                      Abnormal dentin morphology 27
                        Dentinogenesis imperfecta 24
                          Dentinogenesis imperfecta limited to primary teeth 1
                          Dentinogenesis imperfecta of primary and permanent teeth 0
                          Odontodysplasia 2
paths to the root