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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 dystrophica
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Accession:DOID:4959 term browser browse the term
Definition:An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)
Synonyms:exact_synonym: Dystrophic Epidermolysis Bullosa;   EBR1;   Epidermolysis Bullosa Dystrophica, Autosomal Recessive;   Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type;   Epidermolysis bullosa dystrophica, AR;   Hallopeau Siemens disease;   RDEB;   dystrophic epidermolysis bullosa, autosomal recessive;   dystrophic epidermolysis bullosas;   epidermolysis bullosa dystrophica, recessive
 narrow_synonym: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE;   EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT;   epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD
 primary_id: MESH:D016108
 alt_id: OMIA:000341;   OMIM:226600
 xref: EFO:1000692;   GARD:2150;   NCI:C84691;   ORDO:303
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion-deletion		 OMIM
ClinVar
RGD		 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion:promoter:g.-1607_-1606insG (human)		 OMIM
ClinVar
RGD		 PMID:18030675 PMID:25741868 PMID:28492532 RGD:8549728 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant OMIM
ClinVar		 PMID:1680286 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191 		JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8755915 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar		 PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
pretibial dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
transient bullous dermolysis of the newborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn OMIM
ClinVar		 PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    sensory system disease 6706
      skin disease 3857
        Skin Abnormalities 1286
          epidermolysis bullosa 94
            epidermolysis bullosa dystrophica 6
              Epidermolysis Bullosa Dystrophica Neurotrophica 0
              Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
              Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
              Epidermolysis Bullosa Pruriginosa 1
              Junctional Epidermolysis Bullosa Inversa 0
              autosomal dominant dystrophic epidermolysis bullosa + 3
              pretibial dystrophic epidermolysis bullosa 1
              recessive dystrophic epidermolysis bullosa 3
              transient bullous dermolysis of the newborn 1
Path 2
Term Annotations click to browse term
  disease 15697
    Pathological Conditions, Signs and Symptoms 12081
      Signs and Symptoms 10025
        Neurologic Manifestations 9706
          sensory system disease 6706
            skin disease 3857
              dermatitis 474
                bullous skin disease 165
                  vesiculobullous skin disease 153
                    epidermolysis bullosa 94
                      epidermolysis bullosa dystrophica 6
                        Epidermolysis Bullosa Dystrophica Neurotrophica 0
                        Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
                        Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
                        Epidermolysis Bullosa Pruriginosa 1
                        Junctional Epidermolysis Bullosa Inversa 0
                        autosomal dominant dystrophic epidermolysis bullosa + 3
                        pretibial dystrophic epidermolysis bullosa 1
                        recessive dystrophic epidermolysis bullosa 3
                        transient bullous dermolysis of the newborn 1
paths to the root