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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
ClinVar Annotator: match by term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
OMIM
ClinVar
PMID:9475592 PMID:24290375 PMID:25741868 NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
paths to the root