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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:Deep philtrum
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Accession:HP:0002002 term browser browse the term
Definition:Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Comment:Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
Synonyms:exact_synonym: Increased depth of philtrum;   Prominent philtrum;   Pronounced philtrum
 related_synonym: Depressed philtrum
 alt_id: HP:0000305;   HP:0004654
 xref: UMLS:C1839797;   UMLS:C4020861


show annotations for term's descendants           Sort by:
Deep philtrum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 IAGP HPO OMIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO OMIM:616455 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO OMIM:615834 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO OMIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:505652 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO OMIM:615879 ORPHA:404443 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO OMIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EED embryonic ectoderm development IAGP HPO ORPHA:3447 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO OMIM:610536 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:618333 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:102370 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO OMIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO OMIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:137550 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO OMIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO OMIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO OMIM:152950 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MGP matrix Gla protein IAGP HPO OMIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO OMIM:158300 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit IAGP HPO OMIM:619717 NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655 		JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NOVA2 NOVA alternative splicing regulator 2 IAGP HPO OMIM:618859 NCBI chr19:45,933,734...45,973,865
Ensembl chr19:45,933,734...45,974,044 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:137550 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO OMIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		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 OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300804 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO OMIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PBX1 PBX homeobox 1 IAGP HPO OMIM:617641 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO OMIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615398 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO OMIM:617506 ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO OMIM:619143 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO OMIM:619542 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:404440 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO OMIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TALDO1 transaldolase 1 IAGP HPO OMIM:606003 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO OMIM:610954 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO OMIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO OMIM:190350 ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP HPO OMIM:620535 NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO OMIM:609637 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO OMIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Abnormality of the face 3146
            Abnormality of the mouth 2438
              Abnormal oral morphology 2346
                Abnormal oral cavity morphology 2322
                  Abnormal lip morphology 1221
                    Abnormal upper lip morphology 949
                      Abnormality of the philtrum 711
                        Deep philtrum 73
paths to the root