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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 Simplex 7, with Nephropathy and Deafness
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Accession:DOID:9004850 term browser browse the term
Synonyms:exact_synonym: EBS7;   nephropathy with pretibial epidermolysis bullosa and deafness
 primary_id: MESH:C563798
 alt_id: OMIM:609057

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Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness OMIM
ClinVar		 PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chrNW_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      auditory system disease 892
        inner ear disease 582
          sensorineural hearing loss 543
            Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              dermatitis 421
                bullous skin disease 146
                  vesiculobullous skin disease 134
                    epidermolysis bullosa 85
                      epidermolysis bullosa simplex 74
                        Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
paths to the root