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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 plantar creases
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Accession:HP:0001869 term browser browse the term
Definition:The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
Synonyms:exact_synonym: Deep wrinkles in soles of feet
 xref: UMLS:C1857953


show annotations for term's descendants           Sort by:
Deep plantar creases term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:278250 ORPHA:2834 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO MIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:609942 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Deep plantar creases ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Deep plantar creases ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO MIM:614080 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO MIM:618548 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		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 SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Deep plantar creases ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO MIM:602342 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
Deep longitudinal plantar crease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
Plantar crease between first and second toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Plantar crease between first and second toes ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of limbs 3148
        Abnormality of the lower limb 2185
          Abnormal foot morphology 1565
            Abnormality of the plantar skin of foot 178
              Deep plantar creases 25
                Deep longitudinal plantar crease 2
                Plantar crease between first and second toes 3
Path 2
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the integument 6115
        Abnormality of the skin 5443
          Abnormal skin morphology 2574
            Regional abnormality of skin 550
              Abnormality of the plantar skin of foot 178
                Deep plantar creases 25
                  Deep longitudinal plantar crease 2
                  Plantar crease between first and second toes 3
paths to the root