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ONTOLOGY REPORT - ANNOTATIONS


Term:palmoplantar keratoderma and congenital alopecia 1
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Accession:DOID:0111244 term browser browse the term
Definition:An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)
Synonyms:exact_synonym: KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME;   PPK-CA, Stevanovic type;   PPKCA, Stevanovic type;   PPKCA1;   autosomal dominant palmoplantar hyperkeratosis and congenital alopecia;   autosomal dominant palmoplantar keratoderma and congenital alopecia;   palmoplantar keratoderma and congenital alopecia, Stevanovic type
 primary_id: OMIM:104100
 alt_id: RDO:0016130
 xref: GARD:604;   ORDO:1010
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palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      ectodermal dysplasia 249
        palmoplantar keratoderma and congenital alopecia 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            hair disease 228
              hypotrichosis 111
                alopecia 78
                  Alopecia Congenita Keratosis Palmoplantaris 1
                    palmoplantar keratoderma and congenital alopecia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.