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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 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24580733 PMID:24715504 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31837202 PMID:32573726 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Anatomical Pathological Conditions 1588
        Pathologic Constriction 5
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 1
paths to the root