ONTOLOGY REPORT - ANNOTATIONS


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: PN;   poikiloderma with neutropenia, Clericuzio-type
 primary_id: MESH:C565820
 alt_id: OMIM:604173;   RDO:0014358
 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
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          poikiloderma with neutropenia 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          leukocyte disease 435
            leukopenia 124
              agranulocytosis 59
                neutropenia 55
                  poikiloderma with neutropenia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.