ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperpigmentation
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Accession:DOID:9003984 term browser browse the term
Definition:Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Synonyms:exact_synonym: Hypermelanoses;   Hypermelanosis
 primary_id: MESH:D017495;   RDO:0000461
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Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link NW_004955410 20,428,531 20,459,482 RGD:9068941
G Rpl27a ribosomal protein L27a JBrowse link NW_004955414 24,461,997 24,464,828 RGD:9068941
G Slc29a3 solute carrier family 29 member 3 JBrowse link NW_004955437 20,072,915 20,108,342 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Prmt7 protein arginine methyltransferase 7 JBrowse link NW_004955484 8,299,427 8,352,465 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004955404 31,516,727 31,691,414 RGD:9068941
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link NW_004955551 2,321,190 2,427,000 RGD:9068941
RGD:7240710
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link NW_004955450 15,853,372 15,927,966 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
RGD:7240710
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitlg KIT ligand JBrowse link NW_004955405 25,816,137 25,969,006 RGD:9068941
RGD:7240710
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link NW_004955563 1,867,400 2,011,845 RGD:9068941
RGD:7240710
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link NW_004955410 4,114,280 4,181,953 RGD:9068941
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004955494 2,567,238 2,712,708 RGD:9068941
G Epha2 EPH receptor A2 JBrowse link NW_004955527 2,120,447 2,151,932 RGD:9068941
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like JBrowse link NW_004955555 2,373,088 2,390,973 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004955425 5,007,811 5,091,829 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:9068941
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004955429 17,980,956 18,049,723 RGD:9068941
G Rpl6 ribosomal protein L6 JBrowse link NW_004955482 8,917,777 8,923,150 RGD:9068941
LEOPARD Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:7240710
RGD:9068941
LEOPARD Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004955429 17,980,956 18,049,723 RGD:9068941
RGD:7240710
LEOPARD Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004955494 2,567,238 2,712,708 RGD:9068941
RGD:7240710
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link NW_004955482 8,352,569 8,383,097 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link NW_004955435 18,001,517 18,009,105 RGD:9068941
RGD:7240710
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP binding cassette subfamily A member 7 JBrowse link NW_004955495 6,818,002 6,838,177 RGD:9068941
G Arhgap45 Rho GTPase activating protein 45 JBrowse link NW_004955495 6,800,988 6,815,941 RGD:9068941
G Arid3a AT-rich interaction domain 3A JBrowse link NW_004955495 6,884,077 6,912,625 RGD:9068941
G Cbarp CACN subunit beta associated regulatory protein JBrowse link NW_004955495 6,671,719 6,678,338 RGD:9068941
G Cfd complement factor D JBrowse link NW_004955495 6,955,612 6,961,317 RGD:9068941
G Cnn2 calponin 2 JBrowse link NW_004955495 6,839,436 6,848,208 RGD:9068941
G Gpx4 glutathione peroxidase 4 JBrowse link NW_004955495 6,767,969 6,772,256 RGD:9068941
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B JBrowse link NW_004955495 6,859,909 6,866,297 RGD:9068941
G Kiss1r KISS1 receptor JBrowse link NW_004955495 6,918,632 6,921,891 RGD:9068941
G Med16 mediator complex subunit 16 JBrowse link NW_004955495 6,939,084 6,955,885 RGD:9068941
G Polr2e RNA polymerase II subunit E JBrowse link NW_004955495 6,779,557 6,788,241 RGD:9068941
G R3hdm4 R3H domain containing 4 JBrowse link NW_004955495 6,926,619 6,936,128 RGD:9068941
G Sbno2 strawberry notch homolog 2 JBrowse link NW_004955495 6,709,190 6,770,816 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004955495 6,678,195 6,699,408 RGD:9068941
RGD:7240710
G Tmem259 transmembrane protein 259 JBrowse link NW_004955495 6,856,609 6,859,948 RGD:9068941
G Wdr18 WD repeat domain 18 JBrowse link NW_004955495 6,869,543 6,877,058 RGD:9068941
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link NW_004955450 15,853,372 15,927,966 RGD:9068941
RGD:7240710
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10494
    sensory system disease 3700
      skin disease 1927
        pigmentation disease 174
          Hyperpigmentation 39
            Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
            Dermatopathia Pigmentosa Reticularis 0
            Dowling-Degos disease + 4
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hyperpigmentation of Fuldauer and Kuijpers 0
            Hyperpigmentation, Familial Progressive + 1
            Melanosis + 31
            Melanosis, Universal 0
            Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
            Patterson Pseudoleprechaunism Syndrome 0
            hyperpigmentation of eyelid 0
Path 2
Term Annotations click to browse term
  disease 10494
    disease of anatomical entity 10043
      nervous system disease 7751
        sensory system disease 3700
          skin disease 1927
            pigmentation disease 174
              Hyperpigmentation 39
                Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
                Dermatopathia Pigmentosa Reticularis 0
                Dowling-Degos disease + 4
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hyperpigmentation of Fuldauer and Kuijpers 0
                Hyperpigmentation, Familial Progressive + 1
                Melanosis + 31
                Melanosis, Universal 0
                Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
                Patterson Pseudoleprechaunism Syndrome 0
                hyperpigmentation of eyelid 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.