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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:C538345;   MESH:C565820
 alt_id: OMIM:604173
 xref: GARD:4085;   NCI:C177535;   ORDO:221046
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Poikiloderma with neutropenia ClinVar
OMIM
PMID:11737690 PMID:18925663 PMID:20004881 PMID:20503306 PMID:20618321 PMID:20817924 PMID:21271650 PMID:21872685 PMID:25741868 PMID:28492532 PMID:29072891 NCBI chr19:10,105,750...10,118,701
Ensembl chr19:10,105,701...10,119,128
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    sensory system disease 5443
      skin disease 2816
        Genetic Skin Diseases 921
          poikiloderma with neutropenia 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      Hemic and Lymphatic Diseases 2191
        hematopoietic system disease 1773
          leukocyte disease 508
            leukopenia 126
              agranulocytosis 63
                neutropenia 59
                  poikiloderma with neutropenia 1
paths to the root