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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:Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
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Accession:DOID:9006784 term browser browse the term
Synonyms:primary_id: MESH:C566379;   RDO:0014752
For additional species annotation, visit the Alliance of Genome Resources.



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Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Laryngotracheal stenosis, progressive, with short stature and arthropathy ClinVar PMID:8898652 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Anatomical Pathological Conditions 2026
        Pathologic Constriction 5
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 1
paths to the root