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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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:C565820
 alt_id: MESH:C538345;   OMIM:604173
 xref: GARD:4085;   NCI:C177535;   ORDO:221046



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poikiloderma with neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Poikiloderma with neutropenia
OMIM
CTD
ClinVar
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Genetic Skin Diseases 1850
          poikiloderma with neutropenia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          leukocyte disease 1308
            leukopenia 560
              agranulocytosis 492
                neutropenia 488
                  poikiloderma with neutropenia 1
paths to the root