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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:peeling skin syndrome 3
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Accession:DOID:0070522 term browser browse the term
Definition:A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11. (DO)
Synonyms:exact_synonym: PSS3
 broad_synonym: peeling skin syndrome type A
 primary_id: MIM:616265
 alt_id: DOID:9008071


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peeling skin syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome type A ClinVar PMID:22289416 PMID:25741868 PMID:28204496 PMID:28492532 NCBI chr 1:87,294,144...87,435,900
Ensembl chr 1:87,294,540...87,435,900 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    syndrome 10901
      peeling skin syndrome 10
        peeling skin syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18973
    Pathological Conditions, Signs and Symptoms 13385
      Signs and Symptoms 10876
        Neurologic Manifestations 10114
          sensory system disease 7036
            skin disease 4070
              dermatitis 486
                Exfoliative Dermatitis 12
                  peeling skin syndrome 10
                    peeling skin syndrome 3 1
paths to the root