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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:Dental enamel pits
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Accession:HP:0009722 term browser browse the term
Definition:The presence of small depressions in the dental enamel.
Synonyms:exact_synonym: Dental enamel pitting;   Pitting of tooth enamel;   Tooth enamel pits
 xref: UMLS:C1860711


show annotations for term's descendants           Sort by:
Dental enamel pits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBN ameloblastin IAGP HPO MIM:616270 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO MIM:619787 ORPHA:251393 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO ORPHA:3352 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP HPO MIM:125500 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:251393 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO MIM:616221 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		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 TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Tooth enamel pits ClinVar
HPO		 PMID:25741868 MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the musculoskeletal system 11666
        Abnormality of the skeletal system 10413
          Abnormal odontoid tissue morphology 264
            Abnormal dental enamel morphology 246
              Dental enamel pits 10
Path 2
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 dental structure 593
                      Abnormal dental enamel morphology 246
                        Dental enamel pits 10
paths to the root