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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:Ectodermal Dysplasia-Skin Fragility Syndrome
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Accession:DOID:9006397 term browser browse the term
Synonyms:exact_synonym: EDSFS;   McGrath syndrome
 primary_id: MESH:C536183
 alt_id: OMIA:001864;   OMIM:604536
For additional species annotation, visit the Alliance of Genome Resources.

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Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by OMIM:604536
ClinVar Annotator: match by term: Ectodermal dysplasia skin fragility syndrome		 OMIM
ClinVar		 PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 PMID:25741868 PMID:28492532 NCBI chr13:52,705,174...52,753,089
Ensembl chr13:52,705,174...52,752,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Ectodermal Dysplasia-Skin Fragility Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Genetic Skin Diseases 894
              ectodermal dysplasia 252
                Ectodermal Dysplasia-Skin Fragility Syndrome 2
paths to the root