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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: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

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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 OMIM
ClinVar		 PMID:2007407 PMID:2526018 PMID:2733290 PMID:9500556 PMID:10587585 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital heart disease 1271
        Heart-Hand Syndrome, Slovenian Type 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Congenital Abnormalities 6946
          Musculoskeletal Abnormalities 3091
            Congenital Limb Deformities 968
              Congenital Upper Extremity Deformities 202
                Congenital Hand Deformities 177
                  Heart-Hand Syndrome, Slovenian Type 1
paths to the root