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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 4
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Accession:DOID:0111658 term browser browse the term
Definition:A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in KRT85 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ECTD4;   ectodermal dysplasia 4, hair/nail type
 primary_id: OMIM:602032
For additional species annotation, visit the Alliance of Genome Resources.


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ectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 7:144,531,814...144,538,298
Ensembl chr 7:144,531,814...144,537,966
JBrowse link
G Krt85 keratin 85 ISO OMIM NCBI chr 7:143,160,480...143,167,828
Ensembl chr 7:143,161,235...143,167,772
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      ectodermal dysplasia 250
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 4 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              ectodermal dysplasia 250
                pure hair and nail ectodermal dysplasia 2
                  ectodermal dysplasia 4 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.