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 12 35,497,979 35,534,989 RGD:11554173
G Rpl27a ribosomal protein L27A JBrowse link 7 109,519,195 109,522,369 RGD:11554173
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 JBrowse link 10 60,712,072 60,752,849 RGD:11554173
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 5 33,721,724 33,737,068 RGD:11568026
RGD:8554872
RGD:11568054
G Prmt7 protein arginine N-methyltransferase 7 JBrowse link 8 106,211,054 106,251,694 RGD:8554872
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 JBrowse link 6 122,727,809 122,802,274 RGD:1642802
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 14 101,442,360 101,609,226 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 7 130,162,451 130,266,944 RGD:7240710
RGD:8554872
RGD:13592920
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 5 33,721,724 33,737,068 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 11 100,203,162 100,207,510 RGD:7240710
RGD:8554872
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 a disintegrin and metallopeptidase domain 10 JBrowse link 9 70,678,918 70,780,229 RGD:11554173
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:7240710
RGD:8554872
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 2 153,241,532 153,271,029 RGD:11554173
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 16 38,525,058 38,550,257 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 2 153,241,532 153,271,029 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 16 38,525,058 38,550,257 RGD:7240710
RGD:8554872
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitl kit ligand JBrowse link 10 100,015,635 100,100,416 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 8 3,150,922 3,279,649 RGD:7240710
RGD:8554872
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548653
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,660 RGD:8554872
RGD:13592920
G Epha2 Eph receptor A2 JBrowse link 4 141,301,221 141,329,384 RGD:11554173
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 7 19,359,719 19,378,540 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 19 32,757,577 32,826,160 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 5 121,130,533 121,191,397 RGD:1601571
RGD:8554872
RGD:13592920
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
G Raf1 v-raf-leukemia viral oncogene 1 JBrowse link 6 115,618,573 115,676,635 RGD:8554872
RGD:11554173
G Rpl6 ribosomal protein L6 JBrowse link 5 121,204,501 121,209,241 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 5 121,130,533 121,191,397 RGD:7240710
RGD:8554872
LEOPARD Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 v-raf-leukemia viral oncogene 1 JBrowse link 6 115,618,573 115,676,635 RGD:7240710
RGD:8554872
LEOPARD Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,660 RGD:7240710
RGD:8554872
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2, mitochondrial JBrowse link 5 121,566,027 121,593,824 RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras neuroblastoma ras oncogene JBrowse link 3 103,058,285 103,067,914 RGD:7240710
RGD:8554872
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP-binding cassette, sub-family A (ABC1), member 7 JBrowse link 10 79,996,455 80,015,572 RGD:8554872
G Arhgap45 Rho GTPase activating protein 45 JBrowse link 10 80,016,672 80,031,471 RGD:8554872
G Arid3a AT rich interactive domain 3A (BRIGHT-like) JBrowse link 10 79,927,043 79,955,018 RGD:8554872
G Cbarp calcium channel, voltage-dependent, beta subunit associated regulatory protein JBrowse link 10 80,130,434 80,140,135 RGD:8554872
G Cfd complement factor D (adipsin) JBrowse link 10 79,890,853 79,892,660 RGD:8554872
G Cnn2 calponin 2 JBrowse link 10 79,988,600 79,995,400 RGD:8554872
G Elane elastase, neutrophil expressed JBrowse link 10 79,886,312 79,888,216 RGD:8554872
G Gpx4 glutathione peroxidase 4 JBrowse link 10 80,047,166 80,056,439 RGD:8554872
G Grin3b glutamate receptor, ionotropic, NMDA3B JBrowse link 10 79,970,397 79,977,190 RGD:8554872
G Kiss1r KISS1 receptor JBrowse link 10 79,916,960 79,924,088 RGD:8554872
G Med16 mediator complex subunit 16 JBrowse link 10 79,894,707 79,908,941 RGD:8554872
G Polr2e polymerase (RNA) II (DNA directed) polypeptide E JBrowse link 10 80,035,953 80,039,659 RGD:8554872
G R3hdm4 R3H domain containing 4 JBrowse link 10 79,910,052 79,917,047 RGD:8554872
G Sbno2 strawberry notch 2 JBrowse link 10 80,056,997 80,106,108 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 10 80,115,692 80,130,685 RGD:1600691
RGD:8554872
RGD:13592920
RGD:11554173
RGD:7240710
G Tmem259 transmembrane protein 259 JBrowse link 10 79,977,120 79,984,330 RGD:8554872
G Wdr18 WD repeat domain 18 JBrowse link 10 79,959,989 79,969,247 RGD:8554872
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 a disintegrin and metallopeptidase domain 10 JBrowse link 9 70,678,918 70,780,229 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11780
    sensory system disease 4015
      skin disease 2113
        pigmentation disease 191
          Hyperpigmentation 42
            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 + 33
            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 11780
    disease of anatomical entity 11243
      nervous system disease 8527
        sensory system disease 4015
          skin disease 2113
            pigmentation disease 191
              Hyperpigmentation 42
                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 + 33
                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.