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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 15
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Accession:DOID:0111651 term browser browse the term
Definition:An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. (DO)
Synonyms:exact_synonym: ECTD15;   Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
 primary_id: MIM:618535

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ectodermal dysplasia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14645
    syndrome 10006
      ectodermal dysplasia 520
        hypohidrotic ectodermal dysplasia 25
          ectodermal dysplasia 15 1
Path 2
Term Annotations click to browse term
  disease 14645
    Pathological Conditions, Signs and Symptoms 11572
      Signs and Symptoms 9717
        Neurologic Manifestations 9410
          sensory system disease 6656
            mouth disease 956
              tooth disease 430
                Tooth Abnormalities 287
                  tooth agenesis 82
                    anodontia 72
                      hypohidrotic ectodermal dysplasia 25
                        ectodermal dysplasia 15 1
paths to the root