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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:distal arthrogryposis type 3
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Accession:DOID:0111607 term browser browse the term
Definition:A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)
Synonyms:exact_synonym: DA3;   Gordon syndrome;   camptodactyly, cleft palate, and clubfoot;   camptodactyly-cleft palate-clubfoot syndrome;   distal arthrogryposis multiplex congenita, type 2a;   distal arthrogryposis multiplex congenita, type IIa
 primary_id: MESH:C537288
 alt_id: MIM:114300
 xref: GARD:2553;   ORDO:376


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distal arthrogryposis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      arthrogryposis multiplex congenita 259
        distal arthrogryposis 107
          distal arthrogryposis type 3 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Congenital Limb Deformities 1063
              Lower Extremity Deformities, Congenital 198
                Congenital Foot Deformities 190
                  Talipes 47
                    clubfoot 34
                      distal arthrogryposis type 3 1
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