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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: Jadassohn-Lewandowsky Syndrome;   PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE;   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 chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pachyonychia congenita syndrome
CTD
ClinVar
PMID:2248894, PMID:7529318, PMID:9008238, PMID:9767294, PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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, 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
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 type 2 OMIM
ClinVar
PMID:2248894, PMID:3954955, PMID:7529318, PMID:9008238, PMID:9767294, PMID:10571744, PMID:11348474, PMID:11874497, PMID:11886499, PMID:25741868 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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 chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
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
          Gorlin Bushkell Jensen Syndrome 0
          Pachyonychia Congenita 1 1
          Pachyonychia Congenita 2 1
          Pachyonychia Congenita 3 0
          Pachyonychia Congenita 4 0
          Pachyonychia Congenita Recessive 0
          steatocystoma multiplex + 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
                  Gorlin Bushkell Jensen Syndrome 0
                  Pachyonychia Congenita 1 1
                  Pachyonychia Congenita 2 1
                  Pachyonychia Congenita 3 0
                  Pachyonychia Congenita 4 0
                  Pachyonychia Congenita Recessive 0
                  steatocystoma multiplex + 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.