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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 KDF1 on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: ECTD12;   ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
 primary_id: OMIM:617337
For additional species annotation, visit the Alliance of Genome Resources.



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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
OMIM
PMID:27838789 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      ectodermal dysplasia 386
        hypohidrotic ectodermal dysplasia 15
          ectodermal dysplasia 12 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          mouth disease 786
            tooth disease 300
              Tooth Abnormalities 156
                anodontia 41
                  hypohidrotic ectodermal dysplasia 15
                    ectodermal dysplasia 12 1
paths to the root