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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:Abnormality of molar
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Accession:HP:0011077 term browser browse the term
Definition:An abnormality of molar tooth.
Synonyms:xref: UMLS:C4023547



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Abnormal molar morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
Abnormal primary molar morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of first permanent molar tooth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of molar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
Agenesis of permanent molar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX9 paired box 9 IAGP HPO MIM:604625 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
Mulberry molar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHS NHS actin remodeling regulator IAGP HPO MIM:302350 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
Taurodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO MIM:104510 MIM:190320 ORPHA:3352 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G ENAM enamelin IAGP HPO MIM:204650 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO MIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist IAGP HPO MIM:617275 NCBI chr 1:240,489,573...240,612,155
Ensembl chr 1:240,489,573...240,612,155
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:104530 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO MIM:616724 ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP HPO MIM:125400 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:129400 ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:614378 ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of head or neck 5702
        Abnormality of the head 5673
          Abnormality of the face 5210
            Abnormality of the mouth 3784
              Abnormal oral morphology 3686
                Abnormal oral cavity morphology 3662
                  Abnormality of the dentition 1477
                    Abnormality of molar 58
                      Abnormal molar morphology + 57
                      Agenesis of molar + 13
paths to the root