Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:15265795 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        vesiculobullous skin disease 117
          epidermolysis bullosa 57
            Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Hearing Disorders 613
                Hearing Loss 608
                  sensorineural hearing loss 487
                    Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.