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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:Everted upper lip vermilion
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Accession:HP:0010803 term browser browse the term
Definition:Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
Comment:In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.
Synonyms:exact_synonym: Eclabium of upper lip;   Everted prominent upper lip;   Everted upper lip;   Outward turned upper lip
 related_synonym: Drooping upper lip;   Protruding upper lip
 xref: UMLS:C3275452;   UMLS:C4023698;   UMLS:C4280363


show annotations for term's descendants           Sort by:
Everted upper lip vermilion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ORPHA:280763 HPO NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ORPHA:280763 HPO NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ORPHA:280763 HPO NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ORPHA:280763 HPO NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G CREBBP CREB binding protein IAGP OMIM:618332 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP OMIM:615879 HPO NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EDA ectodysplasin A IAGP OMIM:305100 ORPHA:181 HPO NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		JBrowse link
G EDAR ectodysplasin A receptor IAGP OMIM:224900 HPO NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated death domain IAGP OMIM:224900 HPO NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP OMIM:242840 HPO NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:608013 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP OMIM:619951 HPO NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP OMIM:618381 HPO NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP OMIM:618918 HPO NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:300855 ORPHA:276432 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP OMIM:182290 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP OMIM:619056 HPO NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,754...30,984,664 		JBrowse link
G TCF3 transcription factor 3 IAGP OMIM:619824 HPO NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G WDR26 WD repeat domain 26 IAGP ORPHA:513456 HPO NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of head or neck 3381
        Abnormality of the head 3348
          Abnormality of the face 3016
            Abnormality of the mouth 2262
              Abnormal oral morphology 2177
                Abnormal oral cavity morphology 2153
                  Abnormal lip morphology 1077
                    Eclabion 163
                      Everted upper lip vermilion 22
Path 2
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of head or neck 3381
        Abnormality of the head 3348
          Abnormality of the face 3016
            Abnormality of the mouth 2262
              Abnormal oral morphology 2177
                Abnormal oral cavity morphology 2153
                  Abnormal lip morphology 1077
                    Abnormal upper lip morphology 877
                      Abnormality of upper lip vermillion 422
                        Everted upper lip vermilion 22
paths to the root