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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:609057
ClinVar Annotator: match by term: Nephropathy with pretibial epidermolysis bullosa and deafness
OMIM
ClinVar
PMID:15265795 PMID:25741868 PMID:25741871 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      auditory system disease 913
        inner ear disease 649
          sensorineural hearing loss 609
            Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            dermatitis 439
              bullous skin disease 130
                vesiculobullous skin disease 117
                  epidermolysis bullosa 58
                    epidermolysis bullosa simplex 45
                      Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
paths to the root