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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 group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
Synonyms:exact_synonym: Jadassohn-Lewandowsky Syndrome;   PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE;   PC-K6A;   Pachyonychia Congenita Syndrome;   congenital pachyonychia;   congenital pachyonychias;   pachyonychia congenita syndromes
 primary_id: MESH:D053549
 alt_id: RDO:0003106
 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 16058
    syndrome 6996
      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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                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.