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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: Keloids
 related_synonym: KELOID FORMATION
 primary_id: MESH:D007627
 alt_id: OMIM:148100;   RDO:0002706
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760 		JBrowse link
G Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:75,812,837...75,855,996
Ensembl chr16:75,812,997...75,855,745 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Keloid formation ClinVar PMID:28905881 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836 		JBrowse link
G Aspn asporin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409 		JBrowse link
G Capg capping actin protein, gelsolin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 4:100,395,693...100,419,447
Ensembl chr 4:100,407,658...100,419,446 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:59,344,097...59,352,135
Ensembl chr 8:59,344,083...59,352,132 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:56,527,075...56,531,615
Ensembl chr10:56,527,085...56,531,483 		JBrowse link
G Fgg fibrinogen gamma chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514 		JBrowse link
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566 		JBrowse link
G Lgals1 galectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859 		JBrowse link
G Mydgf myeloid-derived growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 9:10,885,521...10,892,744
Ensembl chr 9:10,885,560...10,892,405 		JBrowse link
G Myl6b myosin light chain 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr  X:43,831,778...43,833,044 JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20711176 NCBI chr 8:79,323,408...79,408,842
Ensembl chr 8:79,323,408...79,408,833 		JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094 		JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276 		JBrowse link
G Serpinb5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr13:26,903,052...26,923,250
Ensembl chr13:26,903,052...26,923,250 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skin of body (human)		 CTD PMID:20128793, PMID:20128793 RGD:27226709 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633 		JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357 		JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228 		JBrowse link
G Tpsb2 tryptase beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20128793 NCBI chr10:14,722,672...14,724,464
Ensembl chr10:14,722,756...14,724,600 		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 ClinVar
OMIM		 PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          collagen disease 307
            Keloid 38
              Acne Keloid 0
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
              Warburg-Cinotti Syndrome 1
paths to the root