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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
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Accession:DOID:0050449 term browser browse the term
Definition:A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin. (DO)
Synonyms:exact_synonym: PC-K6A;   congenital pachyonychia;   congenital pachyonychias;   pachyonychia congenita syndrome;   pachyonychia congenita syndromes
 primary_id: MESH:D053549
 xref: GARD:10753;   NCI:C84986;   OMIM:PS167200;   ORDO:2309
For additional species annotation, visit the Alliance of Genome Resources.



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pachyonychia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:85,168,357...85,171,744 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Krt6a keratin 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,829,278...132,833,665 JBrowse link
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 More... NCBI chr10:85,168,357...85,171,744 JBrowse link
Pachyonychia Congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by term: Pachyonychia congenita 2
ClinVar Annotator: match by term: Pachyonychia congenita type 2
OMIM
ClinVar
PMID:2248894 PMID:3954955 PMID:7529318 PMID:9008238 PMID:9767294 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
Pachyonychia Congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt6a keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar
PMID:11886499 PMID:16250206 PMID:22668561 PMID:24611874 PMID:25741868 NCBI chr 7:132,829,278...132,833,665 JBrowse link
steatocystoma multiplex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt17 keratin 17 ISO ClinVar Annotator: match by OMIM:184500 OMIM
ClinVar
PMID:9008238 PMID:9767294 PMID:11886499 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      ectodermal dysplasia 385
        pachyonychia congenita 3
          Gorlin Bushkell Jensen Syndrome 0
          Pachyonychia Congenita 1 1
          Pachyonychia Congenita 2 1
          Pachyonychia Congenita 3 1
          Pachyonychia Congenita 4 0
          Pachyonychia Congenita Recessive 0
          steatocystoma multiplex + 1
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          monogenic disease 7140
            autosomal genetic disease 6287
              autosomal dominant disease 4462
                pachyonychia congenita 3
                  Gorlin Bushkell Jensen Syndrome 0
                  Pachyonychia Congenita 1 1
                  Pachyonychia Congenita 2 1
                  Pachyonychia Congenita 3 1
                  Pachyonychia Congenita 4 0
                  Pachyonychia Congenita Recessive 0
                  steatocystoma multiplex + 1
paths to the root