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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
 primary_id: OMIM:131760
 alt_id: RDO:9003961
 xref: ORDO:79396
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar
OMIM
PMID:1717157 PMID:9804355 PMID:10583131 PMID:10730767 PMID:10733662 More... NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma
ClinVar
OMIM
PMID:1372711 PMID:8757772 PMID:10234505 PMID:10383750 PMID:10730767 More... NCBI chr 7:132,846,355...132,851,986
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 17205
    sensory system disease 5611
      skin disease 2954
        Skin Abnormalities 766
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex Dowling-Meara type 2
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
                  epidermolysis bullosa 57
                    epidermolysis bullosa simplex 42
                      epidermolysis bullosa simplex Dowling-Meara type 2
paths to the root