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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:Skin Fragility-Woolly Hair Syndrome
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Accession:DOID:9007018 term browser browse the term
Synonyms:exact_synonym: SFWHS
 primary_id: MESH:C564359;   RDO:0013353
 alt_id: OMIM:607655
For additional species annotation, visit the Alliance of Genome Resources.



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Skin Fragility-Woolly Hair Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by OMIM:607655
ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
OMIM
ClinVar
PMID:9229116 PMID:9536098 PMID:10395892 PMID:11278896 PMID:11841538 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Skin Fragility-Woolly Hair Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          skin disease 2974
            Genetic Skin Diseases 1051
              Skin Fragility-Woolly Hair Syndrome 1
paths to the root