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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: Congenital Pachyonychia;   Congenital Pachyonychias;   Jackson Lawler Type Pachyonychia Congenita;   Jackson-Lawler Syndrome (Pc-2);   Jadassohn Lewandowsky Syndrome;   Jadassohn-Lewandowski Syndrome (Pc-1);   PACHYONYCHIA CONGENITA 1;   PACHYONYCHIA CONGENITA 2;   PACHYONYCHIA CONGENITA 3;   PACHYONYCHIA CONGENITA 4;   PC-K6a;   PC1;   PC2;   PC3;   PC4;   Pachyonychia Congenita Syndrome;   Pachyonychia Congenita Syndromes;   Pachyonychia Congenita Tarda, Type 1;   Pachyonychia Congenita Type 1;   Pachyonychia Congenita Type 2;   Pachyonychia Congenita, Jadassohn Lewandowsky Type
 primary_id: MESH:D053549;   RDO:0003106
 alt_id: OMIM:167200;   OMIM:167210;   OMIM:615726;   OMIM:615728
 xref: GARD:10753
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:7240710
RGD:8554872
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 14759
    syndrome 4210
      ectodermal dysplasia 139
        pachyonychia congenita 2
          Gorlin Bushkell Jensen Syndrome 0
          Pachyonychia Congenita Recessive 0
          Steatocystoma Multiplex + 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                pachyonychia congenita 2
                  Gorlin Bushkell Jensen Syndrome 0
                  Pachyonychia Congenita Recessive 0
                  Steatocystoma Multiplex + 1
paths to the root