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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;   RDO:0001187
 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 OMIM:610140
ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type
OMIM
ClinVar
PMID:15996213, PMID:18611980, PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        Heart-Hand Syndrome, Slovenian Type 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Congenital Upper Extremity Deformities 88
                Congenital Hand Deformities 72
                  Heart-Hand Syndrome, Slovenian Type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.