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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:Sclerosis
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Accession:DOID:9007896 term browser browse the term
Definition:A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.
Synonyms:exact_synonym: Scleroses
 primary_id: MESH:D012598

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Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha susceptibility ISO DNA:SNPs:5' UTR, exon, intron: RGD PMID:12528118 RGD:4142806 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Plce1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:28492532 PMID:32295525 NCBI chrNW_004936588:715,093...720,035
Ensembl chrNW_004936588:715,162...719,968 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chrNW_004936733:2,121,875...2,129,988 JBrowse link
Ullrich congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related disorder ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chrNW_004936778:515,600...530,828 JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO OMIM:254090 MouseDO NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
Ullrich congenital muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chrNW_004936778:515,600...530,828 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:18414213 More... NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 More... NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936778:375,800...390,764
Ensembl chrNW_004936778:375,800...390,554 		JBrowse link
Ullrich congenital muscular dystrophy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
Ullrich congenital muscular dystrophy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
Ullrich congenital muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: COL12A1-related disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 PMID:10612821 More... NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:737,375...900,912
Ensembl chrNW_004936788:750,934...900,714 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998 		JBrowse link
G LOC101966864 cytochrome c oxidase subunit 7A2, mitochondrial ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:679,717...686,841 JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
G Senp6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:995,260...1,104,561
Ensembl chrNW_004936788:995,254...1,104,679 		JBrowse link
G Tmem30a transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004936788:693,523...723,057
Ensembl chrNW_004936788:693,573...723,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    Pathological Conditions, Signs and Symptoms 11544
      Pathologic Processes 7249
        Sclerosis 20
          Diffuse Mesangial Sclerosis 4
          Hereditary Sclerosing Poikiloderma + 0
          Mediastinal Fibrosis 0
          Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
          Sclerosing Bone Dysplasia, Mental Retardation 0
          Sclerosing Lymphocytic Lobulitis 0
          Ullrich congenital muscular dystrophy + 11
          nephrotic syndrome type 5 4
paths to the root