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RGD uses the Human Disease Ontology (DO, 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:Heart-Hand Syndrome, Slovenian Type
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Accession:DOID:9003205 term browser browse the term
Synonyms:primary_id: MESH:C535852
 alt_id: OMIM:610140

show annotations for term's descendants           Sort by:
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type
CTD Direct Evidence: marker/mechanism
PMID:2007407 PMID:2526018 PMID:9500556 PMID:10587585 PMID:10655060 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    physical disorder 4884
      congenital heart disease 1322
        Heart-Hand Syndrome, Slovenian Type 1
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        Congenital Abnormalities 7412
          Musculoskeletal Abnormalities 3206
            Congenital Limb Deformities 1015
              Congenital Upper Extremity Deformities 213
                Congenital Hand Deformities 185
                  Heart-Hand Syndrome, Slovenian Type 1
paths to the root