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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:Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Synonyms:exact_synonym: Dystrophic Epidermolysis Bullosa;   Dystrophic Epidermolysis Bullosa, Autosomal Recessive;   EBR1;   Epidermolysis Bullosa Dystrophica, Autosomal Recessive;   Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type;   Epidermolysis Bullosa Dystrophica, Recessive;   Epidermolysis Bullosa Dystrophicas;   Epidermolysis bullosa dystrophica, AR;   Hallopeau Siemens disease;   RDEB;   dystrophic epidermolysis bullosas
 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: GARD:2150;   NCI:C84691;   ORDO:303
For additional species annotation, visit the Alliance of Genome Resources.


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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 DNA:insertion-deletion
ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: Epidermolysis Bullosa Dystrophica
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR
ClinVar Annotator: match by term: Hallopeau-Siemens Disease
ClinVar Annotator: match by OMIM:226600
ClinVar
OMIM
PMID:3771648, PMID:7577595, PMID:7833933, PMID:8755915, PMID:9242516, PMID:9326325, PMID:9668111, PMID:9740253, PMID:9804332, PMID:10084325, PMID:10408773, PMID:10469344, PMID:10504458, PMID:10944088, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12653705, PMID:12787275, PMID:12813757, PMID:15550148, PMID:15816848, PMID:15888141, PMID:16271705, PMID:16439963, PMID:16484981, PMID:16500083, PMID:16971478, PMID:17425959, PMID:17501948, PMID:17916216, PMID:18414213, PMID:18440202, PMID:18558993, PMID:18565177, PMID:18951764, PMID:19026465, PMID:19439919, PMID:19681861, PMID:19814614, PMID:20184583, PMID:20357813, PMID:20507384, PMID:20585476, PMID:20598510, PMID:21448560, PMID:21471992, PMID:22070715, PMID:22266148, PMID:23237810, PMID:24032424, PMID:24033266, PMID:24210835, PMID:24279917, PMID:24831336, PMID:24947307, PMID:25155989, PMID:25525159, PMID:25741868, PMID:25819062, PMID:26064063, PMID:26076072, PMID:26102279, PMID:26763448, PMID:27153395, PMID:27544590, PMID:27899325, PMID:28492532, PMID:28853495, PMID:29130490, PMID:30311386, PMID:8275094 RGD:1600946 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO DNA:insertion:promoter:g.-1607_-1606insG (human) OMIM PMID:18030675 RGD:8549728 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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
ClinVar Annotator: match by OMIM:131750
OMIM
ClinVar
PMID:1680286, PMID:2653224, PMID:7577595, PMID:7861014, PMID:8170945, PMID:8288900, PMID:8755915, PMID:9347800, PMID:9668111, PMID:9856844, PMID:9892921, PMID:10084325, PMID:10408773, PMID:10469344, PMID:11781296, PMID:11874498, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16557343, PMID:16965329, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042, PMID:8807337, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
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 null ClinVar PMID:8755915, PMID:9804332, PMID:16965329 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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: Epidermolysis bullosa pruriginosa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
OMIM
ClinVar
PMID:8755915, PMID:9182828, PMID:9242516, PMID:9718359, PMID:9856844, PMID:9881948, PMID:10383749, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16965329, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:21448560, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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:3771648, PMID:5910871, PMID:8618021, PMID:8755915, PMID:10408773, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19026465, PMID:19681861, PMID:20507384, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26064063, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
Pretibial 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: Pretibial epidermolysis bullosa
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive
ClinVar Annotator: match by OMIM:131850
OMIM
ClinVar
PMID:7861014, PMID:8541842, PMID:8755915, PMID:9215684, PMID:9892921, PMID:10408773, PMID:10583163, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:24794830, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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
ISS
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive
ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
ClinVar Annotator: match by term: RDEB, severe generalized
OMIM:226600
ClinVar
MouseDO
PMID:3771648, PMID:7577595, PMID:7695699, PMID:7833933, PMID:7883979, PMID:8037207, PMID:8088783, PMID:8218237, PMID:8513326, PMID:8644729, PMID:8755915, PMID:8900535, PMID:9215684, PMID:9242516, PMID:9326325, PMID:9668111, PMID:9740253, PMID:9804332, PMID:10084325, PMID:10408773, PMID:10469344, PMID:10504458, PMID:10583163, PMID:10944088, PMID:11000732, PMID:11167698, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:12813757, PMID:15888141, PMID:16271705, PMID:16971478, PMID:17425959, PMID:17495952, PMID:17501948, PMID:17916216, PMID:18030675, PMID:18414213, PMID:18558993, PMID:18951764, PMID:19026465, PMID:19344236, PMID:19643583, PMID:19681861, PMID:20184583, PMID:20357813, PMID:20507384, PMID:20598510, PMID:20920254, PMID:21448560, PMID:21471992, PMID:22058051, PMID:22266148, PMID:24032424, PMID:24033266, PMID:24947307, PMID:25525159, PMID:25741868, PMID:26064063, PMID:26076072, PMID:26102279, PMID:26763448, PMID:27153395, PMID:27746867, PMID:27899325, PMID:28492532, PMID:28830826, PMID:29531004, PMID:30311386, PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISS OMIM:226600 MouseDO NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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, dominant neonatal form
ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:131705
OMIM
ClinVar
PMID:8345225, PMID:8755915, PMID:9406826, PMID:9856844, PMID:10408773, PMID:10504458, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16225626, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:22266148, PMID:23786535, PMID:24033266, PMID:24317394, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          collagen disease 307
            epidermolysis bullosa dystrophica 5
              Epidermolysis Bullosa Dystrophica Neurotrophica 0
              Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
              Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
              Epidermolysis Bullosa Inversa Dystrophica 0
              Epidermolysis Bullosa Pruriginosa 1
              Pretibial Epidermolysis Bullosa 1
              autosomal dominant dystrophic epidermolysis bullosa + 2
              recessive dystrophic epidermolysis bullosa 3
              transient bullous dermolysis of the newborn 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Skin Abnormalities 659
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  Epidermolysis Bullosa Dystrophica Neurotrophica 0
                  Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 0
                  Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1
                  Epidermolysis Bullosa Inversa Dystrophica 0
                  Epidermolysis Bullosa Pruriginosa 1
                  Pretibial Epidermolysis Bullosa 1
                  autosomal dominant dystrophic epidermolysis bullosa + 2
                  recessive dystrophic epidermolysis bullosa 3
                  transient bullous dermolysis of the newborn 1
paths to the root

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