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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;   ectodermal dysplasia 4, hair/nail type
 primary_id: MIM:602032


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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 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 19050
    syndrome 11180
      ectodermal dysplasia 547
        pure hair and nail ectodermal dysplasia 2
          ectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            skin disease 4200
              Skin Abnormalities 1320
                ectodermal dysplasia 547
                  pure hair and nail ectodermal dysplasia 2
                    ectodermal dysplasia 4 1
paths to the root