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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
 xref: ICD10CM:Q81.2;   ORDO:79408


show annotations for term's descendants           Sort by:
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 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 chr13:31,262,750...31,295,112 JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,040...31,020,901 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      Skin and Connective Tissue Diseases 6811
        connective tissue disease 5255
          collagen disease 464
            epidermolysis bullosa dystrophica 6
              recessive dystrophic epidermolysis bullosa 3
Path 2
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      nervous system disease 13021
        Neurologic Manifestations 9482
          sensory system disease 6589
            skin disease 3792
              dermatitis 454
                bullous skin disease 154
                  vesiculobullous skin disease 142
                    epidermolysis bullosa 88
                      epidermolysis bullosa dystrophica 6
                        recessive dystrophic epidermolysis bullosa 3
paths to the root