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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:ectodermal dysplasia 9
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Accession:DOID:0111656 term browser browse the term
Definition:A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ECTD9;   ectodermal dysplasia 9, hair/nail type
 primary_id: OMIM:614931
 alt_id: OMIA:002157

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ectodermal dysplasia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type OMIM
ClinVar		 PMID:23063621 PMID:23315978 PMID:25741868 NCBI chrNW_004936512:11,160,343...11,166,616 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    syndrome 9538
      ectodermal dysplasia 508
        pure hair and nail ectodermal dysplasia 1
          ectodermal dysplasia 9 1
Path 2
Term Annotations click to browse term
  disease 14511
    Pathological Conditions, Signs and Symptoms 11331
      Signs and Symptoms 9413
        Neurologic Manifestations 9106
          sensory system disease 6359
            skin disease 3660
              Skin Abnormalities 1228
                ectodermal dysplasia 508
                  pure hair and nail ectodermal dysplasia 1
                    ectodermal dysplasia 9 1
paths to the root