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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:Blister
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Accession:DOID:9008110 term browser browse the term
Definition:Visible accumulations of fluid within or beneath the epidermis.
Synonyms:exact_synonym: Bleb;   Blebs;   Blisters;   Bulla;   Bullae;   Bullous Lesion;   Bullous Lesions;   Vesication;   Vesications
 primary_id: MESH:D001768;   RDO:0001859
For additional species annotation, visit the Alliance of Genome Resources.


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Blister term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:9881948, PMID:12787275, PMID:22266148, PMID:25741868, PMID:26076072, PMID:26148662, PMID:28492532, PMID:28830826, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:15064763, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Blisters ClinVar NCBI chr13:89,650,094...89,654,998
Ensembl chr13:89,650,094...89,654,244
JBrowse link
hypotrichosis and recurrent skin vesicles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by OMIM:613102 ClinVar
OMIM
PMID:19765682 NCBI chr18:11,753,047...11,789,846
Ensembl chr18:11,753,047...11,789,708
JBrowse link
Kindler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 fermitin family member 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616, PMID:12789646, PMID:14507403, PMID:14962093, PMID:15313809, PMID:16675959, PMID:18528435, PMID:19292718, PMID:19762715, PMID:21336475, PMID:22220914, PMID:24635075, PMID:24635080, PMID:25156791, PMID:25437880, PMID:25599393, PMID:25741868, PMID:28443301, PMID:28492532 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Anatomical Pathological Conditions 1524
        Blister 7
          Kindler syndrome 1
          Pulmonary Bullae Causing Pneumothorax 0
          hypotrichosis and recurrent skin vesicles 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            vesiculobullous skin disease 117
              Blister 7
                Kindler syndrome 1
                Pulmonary Bullae Causing Pneumothorax 0
                hypotrichosis and recurrent skin vesicles 1
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.