Term: | Abnormal dentin morphology |
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Accession: | HP:0010299
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browse the term
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Definition: | Any abnormality of dentin. |
Comment: | Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. |
Synonyms: | exact_synonym: | Abnormal dentin; Abnormality of dentin; Abnormality of dentine; Dentin anomaly |
| xref: | UMLS:C4021299 |
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ACP4 |
acid phosphatase 4 |
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IAGP |
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HPO |
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MIM:617297 |
NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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AMELX |
amelogenin X-linked |
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IAGP |
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HPO |
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MIM:301200 |
NCBI chr X:11,293,413...11,309,588
Ensembl chr X:11,293,413...11,300,761
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CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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DSPP |
dentin sialophosphoprotein |
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IAGP |
DNA:snp, missense mutations:intron, cds:g.87612175G>A, p.P17T, p.V18P |
RGD |
PMID:11175790 |
RGD:12910984 |
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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BMP1 |
bone morphogenetic protein 1 |
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IAGP |
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HPO |
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MIM:614856 |
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
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CCDC134 |
coiled-coil domain containing 134 |
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IAGP |
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HPO |
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MIM:619795 |
NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar HPO |
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27509835 PMID:28492532 PMID:29807018 More...
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MIM:166200 MIM:166220 MIM:259420 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Dentinogenesis imperfecta |
ClinVar HPO |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 PMID:19344236 PMID:23227268 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26788535 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30715774 PMID:30886339 PMID:31429852 More...
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MIM:166220 MIM:259420 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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MIM:610682 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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DSPP |
dentin sialophosphoprotein |
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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
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FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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MIM:610968 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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IFITM5 |
interferon induced transmembrane protein 5 |
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IAGP |
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HPO |
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MIM:610967 |
NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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MIM:301014 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MIA3 |
MIA SH3 domain ER export factor 3 |
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IAGP |
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HPO |
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MIM:619269 |
NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
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P3H1 |
prolyl 3-hydroxylase 1 |
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IAGP |
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HPO |
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MIM:610915 |
NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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MIM:112240 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PPIB |
peptidylprolyl isomerase B |
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IAGP |
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HPO |
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MIM:259440 |
NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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MIM:616294 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SERPINF1 |
serpin family F member 1 |
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IAGP |
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HPO |
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MIM:613982 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SERPINH1 |
serpin family H member 1 |
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IAGP |
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HPO |
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MIM:613848 |
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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MIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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SPARC |
secreted protein acidic and cysteine rich |
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IAGP |
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HPO |
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MIM:616507 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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ORPHA:2314 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TMEM38B |
transmembrane protein 38B |
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IAGP |
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HPO |
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MIM:615066 |
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
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TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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MIM:184260 ORPHA:166272 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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MIM:229200 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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DSPP |
dentin sialophosphoprotein |
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IAGP |
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HPO |
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MIM:125420 |
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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DSPP |
dentin sialophosphoprotein |
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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
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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Term paths to the root
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