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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:Wrinkly Skin Syndrome
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Accession:DOID:9008904 term browser browse the term
Synonyms:exact_synonym: WSS
 primary_id: MESH:C536750;   RDO:0002427
 alt_id: OMIM:278250
For additional species annotation, visit the Alliance of Genome Resources.


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Wrinkly Skin Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by OMIM:278250
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18157129 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Wrinkly Skin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              cutis laxa 41
                Wrinkly Skin Syndrome 1
paths to the root

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