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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;   PKP1-RELATED CONDITION
 primary_id: MESH:C536183
 alt_id: MIM:604536;   OMIA:001864


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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: Mcgrath syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: MCGRATH SYNDROME | ClinVar Annotator: match by term: Mcgrath syndrome | ClinVar Annotator: match by term: PKP1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 More... NCBI chr13:49,861,340...49,909,162
Ensembl chr13:49,861,340...49,909,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Ectodermal Dysplasia-Skin Fragility Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Skin Abnormalities 1322
                ectodermal dysplasia 550
                  Ectodermal Dysplasia-Skin Fragility Syndrome 2
paths to the root