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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:epidermolysis bullosa simplex Dowling-Meara type
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Accession:DOID:0060735 term browser browse the term
Definition:An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)
Synonyms:exact_synonym: EBS-DM;   EBS-gen sev;   EBSDM;   epidermolysis bullosa herpetiformis Dowling Meara;   epidermolysis bullosa herpetiformis Dowling-Meara type;   epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma;   epidermolysis bullosa simplex, herpetiformis;   generalized severe epidermolysis bullosa simplex
 xref: ORDO:79396


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epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISS
ISO		 OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type		 MouseDO
ClinVar		 PMID:1717157 PMID:10583131 PMID:10730767 PMID:11331879 PMID:16098032 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISS
ISO		 OMIM:131760
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type		 MouseDO
ClinVar		 PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10730767 PMID:16098032 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar		 PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        Genetic Skin Diseases 1852
          epidermolysis bullosa 94
            epidermolysis bullosa simplex 81
              epidermolysis bullosa simplex generalized type 14
                epidermolysis bullosa simplex Dowling-Meara type 2
                  Generalized Severe Epidermolysis Bullosa Simplex 1A 2
                  Generalized Severe Epidermolysis Bullosa Simplex 2A 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              dermatitis 483
                bullous skin disease 166
                  vesiculobullous skin disease 153
                    epidermolysis bullosa 94
                      epidermolysis bullosa simplex 81
                        epidermolysis bullosa simplex generalized type 14
                          epidermolysis bullosa simplex Dowling-Meara type 2
                            Generalized Severe Epidermolysis Bullosa Simplex 1A 2
                            Generalized Severe Epidermolysis Bullosa Simplex 2A 1
paths to the root