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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;   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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
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:15689448, PMID:16130093, PMID:16935502, PMID:17785673, PMID:17785674, PMID:18642359, PMID:18825676, PMID:19344236, PMID:19564581, PMID:20882040, PMID:23572247, PMID:24038877, PMID:24801232, PMID:24959844, PMID:25741868, PMID:26467025, PMID:27708273, PMID:28182637, PMID:28492532, PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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, PMID:15563506, PMID:15689448, PMID:16075202, PMID:16935502, PMID:19344236, PMID:19564581, PMID:20106987, PMID:20729548, PMID:22075033, PMID:23940025, PMID:24038877, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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:18366090, PMID:19564581, PMID:20976770, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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:10612821, PMID:19344236, PMID:24334604, PMID:24334769, PMID:25741868, PMID:27159402, PMID:27348394, PMID:28492532, PMID:28973083, PMID:29342313, PMID:224334604 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link

Term paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.