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

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 OMIM
PMID:15996213 PMID:18611980 PMID:22224630 PMID:22266370 PMID:22464770 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 18109
    physical disorder 4115
      congenital heart disease 1191
        Heart-Hand Syndrome, Slovenian Type 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Congenital Abnormalities 6693
          Musculoskeletal Abnormalities 2713
            Congenital Limb Deformities 601
              Congenital Upper Extremity Deformities 123
                Congenital Hand Deformities 95
                  Heart-Hand Syndrome, Slovenian Type 1
paths to the root