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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:Adducted Thumbs Syndrome
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Accession:DOID:9004014 term browser browse the term
Synonyms:exact_synonym: congenital clasped thumbs
 primary_id: MESH:C562949
 alt_id: OMIM:201550;   OMIM:314100


show annotations for term's descendants           Sort by:
Adducted Thumbs Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Adducted Thumbs Syndrome 2
        Ehlers-Danlos syndrome musculocontractural type 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Multiple Abnormalities 3680
            Adducted Thumbs Syndrome 2
              Ehlers-Danlos syndrome musculocontractural type 2 1
paths to the root