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ectodermal dysplasia 4 - Ontology Report - Rat Genome Database

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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 the KRT85 gene on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: ECTD4;   KRT85-RELATED CONDITION;   ectodermal dysplasia 4, hair/nail type
 primary_id: MIM:602032

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show annotations for term's descendants           Sort by:
ectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt85 keratin 85 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type | ClinVar Annotator: match by term: KRT85-related condition OMIM
ClinVar		 PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:132,630,184...132,637,061
Ensembl chr 7:132,630,058...132,637,049 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      ectodermal dysplasia 550
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Skin Abnormalities 1321
                ectodermal dysplasia 550
                  pure hair and nail ectodermal dysplasia 2
                    ectodermal dysplasia 4 1
paths to the root