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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 PIEZO2 on chromosome 18p11.22-p11.21. (DO)
Synonyms:exact_synonym: Arthrogryposis with oculomotor limitation and electroretinal abnormalities;   Arthrogryposis, Distal, Type IIb;   DA5;   DAIIB;   arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome;   distal arthrogryposis with ophthalmoplegia;   oculomelic amyoplasia
 primary_id: MESH:C537737
 alt_id: OMIM:108145
 xref: GARD:4047
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:108145
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities
OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      eye disease 2732
        retinal disease 836
          distal arthrogryposis type 5 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  distal arthrogryposis 38
                    distal arthrogryposis type 5 1
paths to the root