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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:recessive dystrophic epidermolysis bullosa
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Accession:DOID:0060642 term browser browse the term
Definition:An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)
Synonyms:exact_synonym: RDEB, Hallopeau-Siemens type;   autosomal recessive dystrophic epidermolysis bullosa generalisata gravis;   autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type;   autosomal recessive epidermolysis bullosa dystrophica inversa
 narrow_synonym: severe generalized RDEB;   severe generalized recessive dystrophic epidermolysis bullosa
 primary_id: MESH:C567122
 alt_id: RDO:0015282
 xref: ICD10CM:Q81.2;   ORDO:79408
For additional species annotation, visit the Alliance of Genome Resources.


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recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name 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: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:9881948 PMID:10084325 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10583163 PMID:10944088 PMID:11000732 PMID:11167698 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12653705 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16271705 PMID:16439963 PMID:16484981 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17495952 PMID:17501948 PMID:17916216 PMID:18030675 PMID:18414213 PMID:18558993 PMID:18951764 PMID:19344236 PMID:19439919 PMID:19643583 PMID:19665875 PMID:19681861 PMID:20184583 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24252097 PMID:24317394 PMID:24947307 PMID:25155989 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26143532 PMID:26148662 PMID:26763448 PMID:27153395 PMID:27544590 PMID:27746867 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29531004 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 Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 8:117,711,567...117,711,634
Ensembl chr 8:117,711,567...117,711,634
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      skin disease 2714
        Skin Abnormalities 617
          epidermolysis bullosa 58
            epidermolysis bullosa dystrophica 5
              recessive dystrophic epidermolysis bullosa 4
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            dermatitis 419
              bullous skin disease 118
                vesiculobullous skin disease 104
                  epidermolysis bullosa 58
                    epidermolysis bullosa dystrophica 5
                      recessive dystrophic epidermolysis bullosa 4
paths to the root