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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:Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects
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Accession:DOID:9004662 term browser browse the term
Synonyms:primary_id: RDO:9000703

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Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chrNW_004955413:29,837,134...29,911,313
Ensembl chrNW_004955413:29,837,134...29,912,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2150
              dysostosis 535
                synostosis 350
                  syndactyly 136
                    Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
paths to the root