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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


show annotations for term's descendants           Sort by:
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 term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities OMIM
ClinVar		 PMID:9475592 PMID:24290375 PMID:25741868 PMID:28492532 NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      bone development disease 2303
        Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
paths to the root