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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:Pachyonychia Congenita 1
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Accession:DOID:9008242 term browser browse the term
Synonyms:exact_synonym: Jadassohn Lewandowsky Syndrome;   Jadassohn-Lewandowski Syndrome (Pc-1);   PC1;   Pachyonychia Congenita Tarda, Type 1;   Pachyonychia Congenita Type 1;   Pachyonychia Congenita, Jadassohn Lewandowsky Type
 primary_id: OMIM:167200
For additional species annotation, visit the Alliance of Genome Resources.


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Pachyonychia Congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Pachyonychia congenita, type 1
ClinVar Annotator: match by term: Pachyonychia congenita 1
OMIM
ClinVar
PMID:8595410, PMID:10606845, PMID:10839714, PMID:11359398, PMID:11886499, PMID:16250206, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      ectodermal dysplasia 250
        pachyonychia congenita 2
          Pachyonychia Congenita 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                pachyonychia congenita 2
                  Pachyonychia Congenita 1 1
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.