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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:Xanthelasma
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Accession:HP:0001114 term browser browse the term
Definition:The presence of xanthomata in the skin of the eyelid.
Synonyms:exact_synonym: Fatty deposits in skin around the eyes;   Fatty deposits on eyelids;   Xanthelasma palpebrarum;   Xanthoma
 narrow_synonym: Xanthelasma of eyelid;   Xanthelasma of periocular region;   Xanthoma of eyelid;   Xanthoma of periocular region
 xref: EFO:0003075;   SNOMEDCT_US:63103006;   SNOMEDCT_US:6400008;   SNOMEDCT_US:75594004;   UMLS:C0155210;   UMLS:C0302314;   UMLS:C4280601;   UMLS:C4280602


show annotations for term's descendants           Sort by:
Xanthelasma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO ORPHA:425 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO ORPHA:425 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 IAGP HPO MIM:143890 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631 		JBrowse link
G APOB apolipoprotein B IAGP HPO MIM:144010 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP HPO MIM:143890 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP HPO MIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G GHR growth hormone receptor IAGP HPO MIM:143890 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO MIM:143890 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LPL lipoprotein lipase IAGP HPO MIM:144250 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO MIM:603776 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:616592 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630 		JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP HPO MIM:143890 NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232220 MIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO MIM:277460 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the integument 6107
        Abnormality of the skin 5435
          Abnormal skin morphology 2573
            Localized skin lesion 937
              Xanthomatosis 39
                Xanthelasma 26
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of head or neck 5196
        Abnormality of the head 5167
          Abnormality of the face 4717
            Abnormality of the orbital region 1674
              Abnormality of the ocular adnexa 1647
                Abnormal ocular adnexa morphology 1629
                  Abnormal eyelid morphology 1402
                    Nodular changes affecting the eyelids 30
                      Xanthelasma 26
paths to the root