Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   RDO:0001484
For additional species annotation, visit the Alliance of Genome Resources.



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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367484 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
CTD
ClinVar
PMID:16199547 PMID:24334604 PMID:25741868 PMID:28492532 PMID:28973083 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 PMID:18366090 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 PMID:10612821 More... NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link

Term paths to the root