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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      auditory system disease 992
        inner ear disease 667
          sensorineural hearing loss 625
            Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      epidermolysis bullosa simplex 81
                        Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
paths to the root