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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 IAGP DNA:SNPs:5' UTR, exon, intron: RGD PMID:12528118 RGD:4142806 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1RN interleukin 1 receptor antagonist EXP CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		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 IAGP ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G LAMB2 laminin subunit beta 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis		 CTD
ClinVar		 PMID:15367484 PMID:25741868 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:15266301 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:32,430,169...32,437,423 JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar		 PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		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 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities		 ClinVar
OMIM		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC129936738 ATAC-STARR-seq lymphoblastoid active region 19855 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,125,340...49,125,479 JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:25741868 PMID:28492532 PMID:32295525 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP 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 chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: COL6A1-related disorder
OMIM:254090
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISS OMIM:254090 MouseDO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: COL6A1-related condition
ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
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 chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
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 chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
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 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G LOC122889011 Sharpr-MPRA regulatory region 1020 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:23572247 More... NCBI chr 2:237,359,226...237,359,520 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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		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 IAGP 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 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
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 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COX7A2 cytochrome c oxidase subunit 7A2 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,237,675...75,250,298
Ensembl chr 6:75,237,675...75,250,323 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G LOC126859712 MED14-independent group 3 enhancer GRCh37_chr6:75828643-75829842 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:9536098 PMID:17576681 PMID:24334604 PMID:25741868 PMID:28492532 More... NCBI chr 6:75,118,927...75,120,126 JBrowse link
G LOC129996730 ATAC-STARR-seq lymphoblastoid active region 24756 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:9536098 PMID:17576681 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 6:75,147,636...75,147,685 JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G SENP6 SUMO specific peptidase 6 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,601,880...75,718,281
Ensembl chr 6:75,601,509...75,718,281 		JBrowse link
G TMEM30A transmembrane protein 30A IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,252,924...75,284,792
Ensembl chr 6:75,252,924...75,284,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Pathological Conditions, Signs and Symptoms 53656
      Pathologic Processes 28396
        Sclerosis 26
          Diffuse Mesangial Sclerosis 5
          Hereditary Sclerosing Poikiloderma + 1
          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 + 14
          nephrotic syndrome type 5 5
paths to the root