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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:11554173
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:11554173
RGD:8554872
Pachyonychia Congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:7240710
RGD:8554872
Pachyonychia Congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:7240710
RGD:8554872
Steatocystoma Multiplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      ectodermal dysplasia 249
        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 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                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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