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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


show annotations for term's descendants           Sort by:
pachyonychia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		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
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 1 OMIM
ClinVar		 PMID:8595410 PMID:10606845 PMID:10839714 PMID:11359398 PMID:11886499 More... NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799 		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 OMIM
ClinVar		 PMID:2248894 PMID:3954955 PMID:7529318 PMID:7539673 PMID:9008238 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
Sebocystomatosis 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: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		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 term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11809119 More... 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 18969
    syndrome 10889
      ectodermal dysplasia 542
        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 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  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