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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:Premature loss of primary teeth
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Accession:HP:0006323 term browser browse the term
Definition:Loss of the primary (also known as deciduous) teeth before the usual age.
Comment:The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth.
Synonyms:exact_synonym: Early loss of baby teeth;   Early loss of deciduous teeth;   Early loss of primary teeth;   Premature deciduous tooth loss;   Premature loss of baby teeth;   Premature loss of deciduous teeth
 narrow_synonym: Premature exfoliation of deciduous teeth;   Premature exfoliation of primary teeth
 alt_id: HP:0006319;   HP:0006351
 xref: SNOMEDCT_US:122483006;   SNOMEDCT_US:39034005;   UMLS:C0266052


show annotations for term's descendants           Sort by:
Premature loss of primary teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:146300 MIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CSTB cystatin B IAGP HPO ORPHA:248 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G EDAR ectodysplasin A receptor IAGP HPO ORPHA:1810 ORPHA:248 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:1810 ORPHA:248 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP HPO ORPHA:1810 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468 		JBrowse link
G PRKD1 protein kinase D1 IAGP HPO MIM:617364 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TRAF6 TNF receptor associated factor 6 IAGP HPO ORPHA:1810 NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VDR vitamin D receptor IAGP HPO ORPHA:93160 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:248 ORPHA:50944 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
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Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of head or neck 5879
        Abnormality of the head 5846
          Abnormality of the face 5383
            Abnormality of the mouth 4013
              Abnormal oral morphology 3915
                Abnormal oral cavity morphology 3891
                  Abnormality of the dentition 1476
                    Abnormality of primary teeth 83
                      Premature loss of primary teeth 21
paths to the root