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: Congenital Pachyonychia;   Congenital Pachyonychias;   PC-K6a;   Pachyonychia Congenita Syndrome;   Pachyonychia Congenita Syndromes
 primary_id: MESH:D053549
 alt_id: RDO:0003106
 xref: GARD:10753;   OMIM:PS167200
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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
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 14823
    syndrome 4218
      ectodermal dysplasia 142
        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 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal dominant disease 1095
                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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.