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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by OMIM:615539
OMIM
ClinVar
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 17207
    syndrome 8126
      Adducted Thumbs Syndrome 2
        Ehlers-Danlos syndrome musculocontractural type 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Multiple Abnormalities 2434
            Adducted Thumbs Syndrome 2
              Ehlers-Danlos syndrome musculocontractural type 2 1
paths to the root