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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 13
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Accession:DOID:0111650 term browser browse the term
Definition:An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. (DO)
Synonyms:exact_synonym: ECTD13;   ectodermal dysplasia 13, hair/tooth type
 primary_id: OMIM:617392


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ectodermal dysplasia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type ClinVar PMID:25741868 PMID:28492532
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27049303 PMID:28492532 NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      ectodermal dysplasia 542
        ectodermal dysplasia 13 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  ectodermal dysplasia 13 2
paths to the root