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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 5
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Accession:DOID:0111608 term browser browse the term
Definition:A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)
Synonyms:exact_synonym: DA5;   DAIIB;   arthrogryposis with oculomotor limitation and electroretinal abnormalities;   arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome;   distal arthrogryposis type IIb;   distal arthrogryposis with ophthalmoplegia;   oculomelic amyoplasia
 primary_id: MESH:C537737
 alt_id: OMIM:108145
 xref: GARD:4047;   MONDO:0007158;   ORDO:1154


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distal arthrogryposis type 5 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: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 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 21128
    physical disorder 4950
      arthrogryposis multiplex congenita 242
        distal arthrogryposis 108
          distal arthrogryposis type 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone inflammation disease 1492
              arthropathy 1471
                arthrogryposis multiplex congenita 242
                  distal arthrogryposis 108
                    distal arthrogryposis type 5 1
paths to the root