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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: CD151-RELATED CONDITION;   EBS7;   nephropathy with pretibial epidermolysis bullosa and deafness
 primary_id: MESH:C563798
 alt_id: MIM: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: CD151-related condition | 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      auditory system disease 1064
        inner ear disease 737
          sensorineural hearing loss 648
            Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              dermatitis 529
                bullous skin disease 168
                  vesiculobullous skin disease 155
                    epidermolysis bullosa 96
                      epidermolysis bullosa simplex 81
                        Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness 1
paths to the root