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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:Arthrogryposis and Ectodermal Dysplasia
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Accession:DOID:9002687 term browser browse the term
Synonyms:exact_synonym: Alves syndrome;   Arthrogryposis ectodermal dysplasia other anomalies;   Cote Adamopoulos Pantelakis syndrome;   TODV syndrome;   Trichooculodermovertebral syndrome
 primary_id: MESH:C537441
 alt_id: OMIM:601701


show annotations for term's descendants           Sort by:
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      arthrogryposis multiplex congenita 241
        Arthrogryposis and Ectodermal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Skin Abnormalities 1298
                ectodermal dysplasia 542
                  Arthrogryposis and Ectodermal Dysplasia 1
paths to the root