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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:Choanal Atresia and Lymphedema
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Accession:DOID:9007154 term browser browse the term
Synonyms:primary_id: MIM:613611


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Choanal Atresia and Lymphedema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Choanal atresia and lymphedema OMIM
ClinVar		 PMID:20826270 PMID:25741868 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      immune system disease 4931
        lymphatic system disease 1749
          lymphedema 152
            Choanal Atresia and Lymphedema 1
Path 2
Term Annotations click to browse term
  disease 19047
    Pathological Conditions, Signs and Symptoms 13529
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7252
            Otorhinolaryngologic Diseases 1790
              nose disease 232
                nasal cavity disease 187
                  choanal atresia 18
                    Choanal Atresia and Lymphedema 1
paths to the root