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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:Excessive wrinkled skin
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Accession:HP:0007392 term browser browse the term
Synonyms:xref: UMLS:C4024890


show annotations for term's descendants           Sort by:
Excessive wrinkled skin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO OMIM:219200 ORPHA:2834 ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:2500 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:1860 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		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 KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:137608 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO OMIM:612940 OMIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP Noonan syndrome-like disorder with loose anagen hair 1; DNA:mutation:cds:p.Ser2Gly(human) RGD PMID:23918763 RGD:11071098 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:601358 ORPHA:3051 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
Excessive skin wrinkling on dorsum of hands and fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO ORPHA:2834 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:498359 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
Excessive wrinkling of palmar skin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTA cystatin A IAGP HPO ORPHA:263534 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TGM5 transglutaminase 5 IAGP HPO ORPHA:263534 NCBI chr15:43,232,590...43,266,928
Ensembl chr15:43,232,590...43,266,928 		JBrowse link
Palmoplantar cutis laxa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO OMIM:278250 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G C1R complement C1r IAGP HPO OMIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:123790 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO OMIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:605275 OMIM:616564 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO OMIM:618499 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO OMIM:615355 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO OMIM:229200 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the integument 2755
        Abnormality of the skin 2279
          Abnormal skin morphology 2071
            Abnormal elasticity of skin 241
              Abnormally lax or hyperextensible skin 183
                Excessive wrinkled skin 40
                  Excessive skin wrinkling on dorsum of hands and fingers 2
                  Excessive wrinkling of palmar skin + 12
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the integument 2755
        Abnormality of the skin 2279
          Abnormal skin morphology 2071
            Generalized abnormality of skin 1138
              Prematurely aged appearance 179
                Premature skin wrinkling 69
                  Excessive wrinkled skin 40
                    Excessive skin wrinkling on dorsum of hands and fingers 2
                    Excessive wrinkling of palmar skin + 12
paths to the root