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wrinkly skin syndrome - Ontology Report - Rat Genome Database

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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 the ATP6V0A2 gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: WSS
 xref: GARD:273;   MESH:C536750;   MIM:278250;   MONDO:0010208;   ORDO:2834

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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 term: Wrinkly skin syndrome OMIM
ClinVar		 PMID:18157129 PMID:20301755 PMID:25741868 PMID:28492532 NCBI chrNW_004936558:1,104,627...1,138,487
Ensembl chrNW_004936558:1,103,135...1,134,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    syndrome 10018
      wrinkly skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 14641
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9740
        Neurologic Manifestations 9431
          sensory system disease 6685
            skin disease 3910
              Genetic Skin Diseases 1755
                cutis laxa 47
                  wrinkly skin syndrome 1
paths to the root