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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:Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
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Accession:DOID:9004850 term browser browse the term
Synonyms:primary_id: MESH:C563798;   RDO:0012965
 alt_id: OMIM:609057
For additional species annotation, visit the Alliance of Genome Resources.


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Nephropathy with Pretibial Epidermolysis Bullosa 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 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Urogenital Diseases 4204
        urinary system disease 2108
          kidney disease 1887
            Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            dermatitis 420
              bullous skin disease 118
                vesiculobullous skin disease 105
                  epidermolysis bullosa 58
                    Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
paths to the root