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 6 54,963,990 55,001,806 RGD:11554173
G Rpl27a ribosomal protein L27a JBrowse link 1 174,132,798 174,135,816 RGD:11554173
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:11554173
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11568026
RGD:8554872
RGD:11568054
G Prmt7 protein arginine methyltransferase 7 JBrowse link 19 38,189,605 38,237,155 RGD:8554872
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:1642802
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 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 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568032
RGD:11554173
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:11554173
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:11554173
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:7240710
RGD:8554872
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:7240710
RGD:8554872
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitlg KIT ligand JBrowse link 7 42,269,784 42,351,054 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 12 1,682,527 1,816,414 RGD:7240710
RGD:8554872
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 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 4 67,389,331 67,520,549 RGD:8554872
RGD:13592920
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:1601571
RGD:8554872
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:11554173
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 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 40,895,515 40,955,999 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 4 147,532,040 147,592,769 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 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link 12 40,466,418 40,498,813 RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP binding cassette subfamily A member 7 JBrowse link 7 12,742,433 12,762,423 RGD:8554872
G Arhgap45 Rho GTPase activating protein 45 JBrowse link 7 12,541,032 12,741,314 RGD:8554872
G Arid3a AT-rich interaction domain 3A JBrowse link 7 12,573,604 12,602,407 RGD:8554872
G Cbarp CACN subunit beta associated regulatory protein JBrowse link 7 12,433,422 12,441,048 RGD:8554872
G Cfd complement factor D JBrowse link 7 12,634,216 12,635,939 RGD:8554872
G Cnn2 calponin 2 JBrowse link 7 12,782,459 12,787,977 RGD:8554872
G Defa5 defensin alpha 5 JBrowse link 16 75,338,050 75,340,401 RGD:11554173
G Elane elastase, neutrophil expressed JBrowse link 7 12,638,320 12,640,168 RGD:8554872
G Gpx4 glutathione peroxidase 4 JBrowse link 7 12,516,357 12,519,154 RGD:8554872
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 7 12,764,993 12,771,310 RGD:8554872
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:8554872
G Med16 mediator complex subunit 16 JBrowse link 7 12,619,739 12,632,241 RGD:8554872
G Polr2e RNA polymerase II subunit E JBrowse link 7 12,532,785 12,536,797 RGD:8554872
G R3hdm4 R3H domain containing 4 JBrowse link 7 12,611,476 12,618,586 RGD:8554872
G Sbno2 strawberry notch homolog 2 JBrowse link 7 12,471,805 12,515,700 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:1600691
RGD:8554872
RGD:11554173
RGD:7240710
G Tmem259 transmembrane protein 259 JBrowse link 7 12,771,239 12,777,901 RGD:8554872
G Wdr18 WD repeat domain 18 JBrowse link 7 12,561,318 12,569,120 RGD:8554872
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        pigmentation disease 212
          Hyperpigmentation 44
            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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            pigmentation disease 212
              Hyperpigmentation 44
                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.