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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:0112171 term browser browse the term
Definition:A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: WSS
 primary_id: MESH:C536750
 alt_id: OMIM:278250
 xref: GARD:273;   ORDO:2834
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
ClinVar Annotator: match by term: Wrinkly skin syndrome
OMIM
ClinVar
CTD
PMID:18157129 PMID:25741868 PMID:28492532 NCBI chr12:31,949,863...31,979,777 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      wrinkly skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Genetic Skin Diseases 1051
              cutis laxa 45
                wrinkly skin syndrome 1
paths to the root