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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Melanosis
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Accession:DOID:9001583 term browser browse the term
Definition:Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
Synonyms:exact_synonym: Chloasma;   Chloasmas;   Freckle;   Freckles;   Melanism;   Melanoses;   Melasma;   Melasmas
 primary_id: MESH:D008548
 xref: EFO:0003963


show annotations for term's descendants           Sort by:
Melanosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:30721697 NCBI chr26:9,319,109...9,361,021 JBrowse link
acanthosis nigricans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:11055896 PMID:11314002 PMID:16912704 PMID:17875876 PMID:18000903 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr 5:81,172,085...81,216,708
Ensembl chr 5:81,173,147...81,216,669 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:28492532 PMID:29751792 PMID:31464584 NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO secondary to insulin resistance; mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome OMIM
ClinVar		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor ISO ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A OMIM
ClinVar		 PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
Lentigo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO protein:increased expression:dermis: RGD PMID:20662835 RGD:8548653 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
Noonan syndrome with multiple lentigines term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 2:81,534,130...81,561,722
Ensembl chr 2:81,534,125...81,561,725 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chr 1:110,149,393...110,166,029
Ensembl chr 1:110,156,749...110,165,915 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 OMIM
ClinVar		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:4746100 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr26:9,970,416...9,975,897 JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKRN2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:5,972,567...6,002,424
Ensembl chr20:5,973,866...6,002,353 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 OMIM
ClinVar		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G TMEM40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chr20:5,811,247...5,855,100
Ensembl chr20:5,827,515...5,854,362 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 3 OMIM
ClinVar		 PMID:2500657 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
Peutz-Jeghers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,724,747...57,746,637
Ensembl chr20:57,722,917...57,746,622 		JBrowse link
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar NCBI chr20:57,554,162...57,559,126
Ensembl chr20:57,554,032...57,559,612 		JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,684,959...57,691,621
Ensembl chr20:57,637,796...57,691,896 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More...
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,703,569...57,710,119 JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940 		JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819 		JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,649,836...57,653,661
Ensembl chr20:57,649,868...57,654,199 		JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,761,100...57,769,656
Ensembl chr20:57,760,909...57,769,105 		JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,592,901...57,640,047
Ensembl chr20:57,267,724...57,640,750 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome OMIM
ClinVar		 PMID:9399902 PMID:9425897 PMID:9428765 PMID:9536098 PMID:9731485 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,695,004...57,703,650
Ensembl chr20:57,695,002...57,749,891 		JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr20:57,712,854...57,717,988
Ensembl chr20:57,712,740...57,718,107 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      skin disease 3751
        pigmentation disease 250
          Hyperpigmentation 49
            Melanosis 39
              Lentigo + 28
              Neurocutaneous Melanosis 1
              Schwartz Cohen-Addad Lambert Syndrome 0
              Universal Melanosis 0
              acanthosis nigricans + 9
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              pigmentation disease 250
                Hyperpigmentation 49
                  Melanosis 39
                    Lentigo + 28
                    Neurocutaneous Melanosis 1
                    Schwartz Cohen-Addad Lambert Syndrome 0
                    Universal Melanosis 0
                    acanthosis nigricans + 9
paths to the root