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 17,278,637 17,326,171 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 11 8,549,367 8,552,844 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 70,314,373 70,358,482 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G PRMT7 protein arginine methyltransferase 7 JBrowse link 16 68,081,700 68,131,907 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,282,441 75,480,138 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 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
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 1,843,780 1,858,635 RGD:7240710
RGD:9068941
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:7240710
RGD:9068941
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 55,873,796 56,027,188 RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 RGD:9068941
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 123,503,899 123,529,919 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 RGD:7240710
RGD:9068941
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 123,503,899 123,529,919 RGD:7240710
RGD:9068941
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 12 89,341,921 89,436,081 RGD:7240710
RGD:9068941
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSR insulin receptor JBrowse link 19 7,255,444 7,411,916 RGD:7240710
RGD:9068941
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 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 7 145,124,291 145,327,115 RGD:9068941
G EPHA2 EPH receptor A2 JBrowse link 1 16,253,509 16,284,787 RGD:9068941
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 19 50,915,901 50,950,837 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,853,415 12,932,871 RGD:9068941
G RPL6 ribosomal protein L6 JBrowse link 12 113,398,795 113,403,247 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 12 113,412,077 113,503,762 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 3 12,853,415 12,932,871 RGD:7240710
RGD:9068941
LEOPARD Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 145,124,291 145,327,115 RGD:7240710
RGD:9068941
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH2 aldehyde dehydrogenase 2 family member JBrowse link 12 112,734,243 112,776,471 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 122,890,505 122,903,585 RGD:7240710
RGD:9068941
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 1,016,829 1,042,251 RGD:9068941
G ARID3A AT-rich interaction domain 3A JBrowse link 19 904,414 948,493 RGD:9068941
G CBARP CACN subunit beta associated regulatory protein JBrowse link 19 1,212,854 1,220,108 RGD:9068941
G CFD complement factor D JBrowse link 19 830,004 831,566 RGD:9068941
G CNN2 calponin 2 JBrowse link 19 1,005,670 1,015,133 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 19 820,455 828,181 RGD:9068941
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,082,917 1,085,538 RGD:9068941
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 19 969,844 982,889 RGD:9068941
G KISS1R KISS1 receptor JBrowse link 19 889,152 891,739 RGD:9068941
G LOC100990706 rho GTPase-activating protein 45 JBrowse link 19 1,053,817 1,063,962 RGD:9068941
G LOC100991118 defensin-5 RGD:9068941
G MED16 mediator complex subunit 16 JBrowse link 19 840,896 864,857 RGD:9068941
G POLR2E RNA polymerase II subunit E JBrowse link 19 1,063,296 1,073,379 RGD:9068941
G R3HDM4 R3H domain containing 4 JBrowse link 19 868,192 874,301 RGD:9068941
G SBNO2 strawberry notch homolog 2 JBrowse link 19 1,086,385 1,161,261 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 19 1,188,537 1,210,677 RGD:7240710
RGD:9068941
G TMEM259 transmembrane protein 259 JBrowse link 19 982,808 994,481 RGD:9068941
G WDR18 WD repeat domain 18 JBrowse link 19 957,924 967,773 RGD:9068941
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 55,873,796 56,027,188 RGD:7240710
RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11150
    sensory system disease 3849
      skin disease 2031
        pigmentation disease 183
          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 11150
    disease of anatomical entity 10664
      nervous system disease 8186
        sensory system disease 3849
          skin disease 2031
            pigmentation disease 183
              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.