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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


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type		 OMIM
CTD
ClinVar		 PMID:2007407 PMID:2526018 PMID:2733290 PMID:9500556 PMID:10587585 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital heart disease 1346
        Heart-Hand Syndrome, Slovenian Type 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
          Musculoskeletal Abnormalities 3288
            Congenital Limb Deformities 1021
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Heart-Hand Syndrome, Slovenian Type 1
paths to the root