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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


show annotations for term's descendants           Sort by:
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 chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		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 ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Lamb2 laminin, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis		 CTD
ClinVar		 PMID:15367484 PMID:25741868 PMID:28492532 NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:15266301 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:104,956,361...104,957,127 JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474 		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 chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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, 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 chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		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 chr10:80,084,939...80,092,628
Ensembl chr10:80,084,955...80,092,628 		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 chr17:46,993,917...47,015,952
Ensembl chr17:46,993,917...47,016,037 		JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), 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 chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 IAGP
ISO		 OMIM:254090
ClinVar Annotator: match by term: COL6A1-related disorder
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 IAGP OMIM:254090 MouseDO NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		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 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 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 chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002 		JBrowse link
G Col6a2 collagen, type VI, alpha 2 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 chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 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 chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172 		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 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 chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464 		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 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 chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		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 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 chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113 		JBrowse link
G Cox7a2 cytochrome c oxidase subunit 7A2 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:79,662,523...79,667,135
Ensembl chr 9:79,662,643...79,667,160 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:79,708,461...79,920,135
Ensembl chr 9:79,712,376...79,920,133 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Senp6 SUMO/sentrin specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:79,973,862...80,052,064
Ensembl chr 9:79,974,185...80,052,235 		JBrowse link
G Tmem30a transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:79,676,223...79,700,712
Ensembl chr 9:79,676,225...79,700,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    Pathological Conditions, Signs and Symptoms 12630
      Pathologic Processes 7994
        Sclerosis 21
          Diffuse Mesangial Sclerosis 5
          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