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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:Keloid
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Accession:DOID:9000058 term browser browse the term
Definition:A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.
Synonyms:exact_synonym: KLDF;   Keloids
 related_synonym: keloid formation
 primary_id: MESH:D007627
 alt_id: OMIM:148100
 xref: EFO:0004212

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Keloid term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt2 actin related protein T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432 		JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chrNW_004936615:4,652,141...4,691,496
Ensembl chrNW_004936615:4,652,299...4,691,607 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28492532 PMID:28905881 NCBI chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512 		JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G Capg capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936712:1,793,666...1,803,621
Ensembl chrNW_004936712:1,793,480...1,806,602 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936727:1,797,966...1,803,401
Ensembl chrNW_004936727:1,797,966...1,803,401 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936471:36,665,641...36,672,626
Ensembl chrNW_004936471:36,662,647...36,672,606 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936595:604,268...609,075 JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936581:1,118,905...1,120,592 JBrowse link
G Ftl ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936664:2,976,325...2,977,878
Ensembl chrNW_004936664:2,976,314...2,977,877 		JBrowse link
G Lgals1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
G Mydgf myeloid derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936588:2,706,329...2,716,545
Ensembl chrNW_004936588:2,706,667...2,716,503 		JBrowse link
G Myl6b myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936646:562,854...566,894
Ensembl chrNW_004936646:562,844...566,882 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chrNW_004936471:17,254,777...17,374,725
Ensembl chrNW_004936471:17,252,234...17,374,804 		JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936474:26,641,776...26,653,291
Ensembl chrNW_004936474:26,639,259...26,653,328 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936659:1,894,423...1,897,690 JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936660:1,669,352...1,673,972
Ensembl chrNW_004936660:1,668,956...1,672,067 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:2,159,582...2,162,832
Ensembl chrNW_004936580:2,159,185...2,168,007 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,355,751...3,358,030
Ensembl chrNW_004936580:3,355,699...3,358,242 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,256,399...3,256,913
Ensembl chrNW_004936580:3,256,417...3,256,913 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936580:3,228,097...3,230,652
Ensembl chrNW_004936580:3,228,092...3,230,676 		JBrowse link
G Serpinb5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936497:2,067,796...2,089,965
Ensembl chrNW_004936497:2,069,035...2,089,745 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20128793 RGD:27226709 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936474:11,274,927...11,279,427
Ensembl chrNW_004936474:11,246,534...11,279,433 		JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936542:2,445,825...2,451,216
Ensembl chrNW_004936542:2,445,659...2,451,216 		JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        connective tissue disease 5008
          collagen disease 451
            Keloid 35
              Acne Keloid 0
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
              Warburg-Cinotti Syndrome 1
paths to the root