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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:Mesoaxial Synostotic Syndactyly with Phalangeal Reduction
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Accession:DOID:9005938 term browser browse the term
Synonyms:exact_synonym: MSSD;   SYNDACTYLY TYPE 9;   Syndactyly, Malik-Percin Type;   syndactyly, type 9;   syndactyly, type IX
 primary_id: MESH:C563721
 alt_id: OMIM:609432
For additional species annotation, visit the Alliance of Genome Resources.


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Mesoaxial Synostotic Syndactyly with Phalangeal Reduction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Syndactyly type 9 OMIM
ClinVar
PMID:9783716 PMID:15039974 PMID:25466284 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        syndactyly 60
          Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        connective tissue disease 4357
          bone disease 3042
            bone development disease 1372
              dysostosis 380
                synostosis 228
                  syndactyly 60
                    Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 1
paths to the root