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 7 17,298,652 17,346,151 RGD:11554173
G RPL27A ribosomal protein L27a JBrowse link 11 8,682,448 8,689,872 RGD:11554173
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 71,319,253 71,363,390 RGD:11554173
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,299 1,808,872 RGD:11568026
RGD:8554872
RGD:11568054
G PRMT7 protein arginine methyltransferase 7 JBrowse link 16 68,310,951 68,360,876 RGD:8554872
G SLC2A3 solute carrier family 2 member 3 JBrowse link 12 7,919,228 7,936,296 RGD:1642802
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,284,664 75,483,144 RGD:7248544
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8554872
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 4 1,793,299 1,808,872 RGD:11568032
RGD:8554872
RGD:11554173
RGD:7240710
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:8554872
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 58,595,204 58,749,978 RGD:11554173
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
RGD:7240710
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:11554173
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:8554872
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:8554872
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 12 88,492,793 88,580,473 RGD:7240710
RGD:8554872
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSR insulin receptor JBrowse link 19 7,112,255 7,294,405 RGD:8554872
RGD:7240710
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548653
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,327 140,924,928 RGD:8554872
RGD:13592920
G EPHA2 EPH receptor A2 JBrowse link 1 16,124,337 16,156,109 RGD:11554173
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 19 45,379,634 45,406,349 RGD:8554872
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:11554173
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,898 112,509,918 RGD:1601571
RGD:8554872
RGD:11554173
RGD:11062587
RGD:11062391
RGD:11070277
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,583,601 12,664,201 RGD:8554872
RGD:11554173
G RPL6 ribosomal protein L6 JBrowse link 12 112,405,181 112,418,850 RGD:8554872
LEOPARD Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,898 112,509,918 RGD:7240710
RGD:8554872
LEOPARD Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,583,601 12,664,201 RGD:7240710
RGD:8554872
LEOPARD Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,327 140,924,928 RGD:8554872
RGD:7240710
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH2 aldehyde dehydrogenase 2 family member JBrowse link 12 111,766,887 111,809,985 RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 114,704,464 114,716,894 RGD:8554872
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 19 1,040,103 1,065,572 RGD:8554872
G ARHGAP45 Rho GTPase activating protein 45 JBrowse link 19 1,065,923 1,087,831 RGD:8554872
G ARID3A AT-rich interaction domain 3A JBrowse link 19 925,733 975,934 RGD:8554872
G CBARP CACN subunit beta associated regulatory protein JBrowse link 19 1,228,287 1,238,512 RGD:8554872
G CFD complement factor D JBrowse link 19 859,659 863,569 RGD:8554872
G CNN2 calponin 2 JBrowse link 19 1,026,275 1,039,068 RGD:8554872
G DEFA5 defensin alpha 5 JBrowse link 8 7,055,300 7,056,739 RGD:11554173
G ELANE elastase, neutrophil expressed JBrowse link 19 850,997 856,250 RGD:8554872
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,103,926 1,106,789 RGD:8554872
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 19 1,000,419 1,009,748 RGD:8554872
G KISS1R KISS1 receptor JBrowse link 19 916,693 921,015 RGD:8554872
G MED16 mediator complex subunit 16 JBrowse link 19 867,961 893,228 RGD:8554872
G POLR2E RNA polymerase II subunit E JBrowse link 19 1,086,579 1,095,392 RGD:8554872
G R3HDM4 R3H domain containing 4 JBrowse link 19 896,503 913,225 RGD:8554872
G SBNO2 strawberry notch homolog 2 JBrowse link 19 1,107,634 1,174,283 RGD:8554872
G STK11 serine/threonine kinase 11 JBrowse link 19 1,205,799 1,228,435 RGD:1600691
RGD:8554872
RGD:11554173
RGD:7240710
G TMEM259 transmembrane protein 259 JBrowse link 19 1,009,651 1,021,142 RGD:8554872
G WDR18 WD repeat domain 18 JBrowse link 19 984,328 994,570 RGD:8554872
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 58,595,204 58,749,978 RGD:8554872
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    sensory system disease 4399
      skin disease 2273
        pigmentation disease 196
          Hyperpigmentation 43
            Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
            Dermatopathia Pigmentosa Reticularis 1
            Dowling-Degos disease + 4
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hyperpigmentation of Fuldauer and Kuijpers 0
            Hyperpigmentation, Familial Progressive + 1
            Melanosis + 34
            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 15415
    disease of anatomical entity 14228
      nervous system disease 10381
        sensory system disease 4399
          skin disease 2273
            pigmentation disease 196
              Hyperpigmentation 43
                Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
                Dermatopathia Pigmentosa Reticularis 1
                Dowling-Degos disease + 4
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hyperpigmentation of Fuldauer and Kuijpers 0
                Hyperpigmentation, Familial Progressive + 1
                Melanosis + 34
                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.