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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


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
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:25741868 PMID:30528827 NCBI chr18:11,799,355...11,830,988
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles		 OMIM
CTD
ClinVar		 PMID:19765682 PMID:25741868 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
ISS		 ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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 19055
    Pathological Conditions, Signs and Symptoms 13535
      Anatomical Pathological Conditions 2745
        Blister 5
          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 19055
    Pathological Conditions, Signs and Symptoms 13535
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            skin disease 4187
              dermatitis 526
                bullous skin disease 167
                  vesiculobullous skin disease 154
                    Blister 5
                      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