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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.


show annotations for term's descendants           Sort by:
 
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 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Blisters ClinVar NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA OMIM
ClinVar
PMID:30528827 NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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 Annotator: match by term: Hypotrichosis and recurrent skin vesicles
ClinVar
OMIM
PMID:19765682 PMID:31790667 NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797
JBrowse link
Kindler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Kindler's syndrome
ClinVar Annotator: match by term: Kindler syndrome
ClinVar
OMIM
PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Anatomical Pathological Conditions 2002
        Blister 8
          BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
          Hypotrichosis and Recurrent Skin Vesicles 1
          Kindler syndrome 1
          Pulmonary Bullae Causing Pneumothorax 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            dermatitis 423
              bullous skin disease 117
                vesiculobullous skin disease 104
                  Blister 8
                    BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA 1
                    Hypotrichosis and Recurrent Skin Vesicles 1
                    Kindler syndrome 1
                    Pulmonary Bullae Causing Pneumothorax 0
paths to the root