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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, with Impaired Proprioception and Touch
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Accession:DOID:9005963 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. (OMIM)
Synonyms:exact_synonym: DAIPT
 primary_id: OMIM:617146


show annotations for term's descendants           Sort by:
Distal Arthrogryposis, with Impaired Proprioception and Touch 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch		 OMIM
CTD
ClinVar		 PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Somatosensory Disorders 322
        Distal Arthrogryposis, with Impaired Proprioception and Touch 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  distal arthrogryposis 108
                    Distal Arthrogryposis, with Impaired Proprioception and Touch 2
paths to the root