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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 Neurotrophica
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Accession:DOID:9006619 term browser browse the term
Synonyms:exact_synonym: EBR3;   epidermolysis bullosa progressiva, recessive;   epidermolysis bullosa with congenital deafness
 primary_id: MESH:C562637
 alt_id: OMIM:226500;   RDO:0012259
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          collagen disease 307
            epidermolysis bullosa dystrophica 5
              Epidermolysis Bullosa Dystrophica Neurotrophica 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  Epidermolysis Bullosa Dystrophica Neurotrophica 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.