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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:Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
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Accession:DOID:9007856 term browser browse the term
Synonyms:exact_synonym: Sams;   Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
 primary_id: MESH:C566544;   RDO:0014872
 alt_id: OMIM:602471
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsc goosecoid homeobox ISO ClinVar Annotator: match by OMIM:602471 OMIM
ClinVar
PMID:9475592 PMID:24290375 NCBI chr 6:128,147,181...128,149,220
Ensembl chr 6:128,147,181...128,149,220
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      bone development disease 1325
        Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
paths to the root