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Term:poikiloderma with neutropenia
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Accession:DOID:0060551 term browser browse the term
Definition:A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: Navajo Poikiloderma;   Navajo immune deficient poikiloderma;   PN;   poikiloderma with neutropenia, Clericuzio-type
 primary_id: MESH:C538345;   MESH:C565820
 alt_id: DOID:9002567;   OMIM:604173
 xref: GARD:4085;   ORDO:221046
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poikiloderma with neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 JBrowse link 19 10,105,750 10,118,701 RGD:8554872

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Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      skin disease 2652
        Genetic Skin Diseases 884
          poikiloderma with neutropenia 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          leukocyte disease 485
            leukopenia 117
              agranulocytosis 59
                neutropenia 56
                  poikiloderma with neutropenia 1
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