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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 ISS
ISO
OMIM:226600
ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: RDEB, severe generalized | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
MouseDO
ClinVar
PMID:2425097 PMID:2653224 PMID:5910871 PMID:7577595 PMID:7695699 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:226600 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
JBrowse link
G Mir711 microRNA 711 ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive ClinVar PMID:28492532 NCBI chr 8:109,621,975...109,622,042
Ensembl chr 8:109,621,975...109,622,042
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISS OMIM:226600 MouseDO NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Skin Abnormalities 1055
          epidermolysis bullosa 80
            epidermolysis bullosa dystrophica 5
              recessive dystrophic epidermolysis bullosa 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            dermatitis 462
              bullous skin disease 151
                vesiculobullous skin disease 138
                  epidermolysis bullosa 80
                    epidermolysis bullosa dystrophica 5
                      recessive dystrophic epidermolysis bullosa 4
paths to the root