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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 12
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Accession:DOID:0111652 term browser browse the term
Definition:A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: ECTD12;   KDF1-RELATED CONDITION;   ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
 primary_id: MIM:617337

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ectodermal dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14655
    syndrome 10040
      ectodermal dysplasia 514
        hypohidrotic ectodermal dysplasia 25
          ectodermal dysplasia 12 1
Path 2
Term Annotations click to browse term
  disease 14655
    Pathological Conditions, Signs and Symptoms 11591
      Signs and Symptoms 9717
        Neurologic Manifestations 9410
          sensory system disease 6655
            mouth disease 959
              tooth disease 431
                Tooth Abnormalities 288
                  tooth agenesis 82
                    anodontia 72
                      hypohidrotic ectodermal dysplasia 25
                        ectodermal dysplasia 12 1
paths to the root