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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 LOC112469011 Sharpr-MPRA regulatory region 3942 IAGP ClinVar Annotator: match by term: Poikiloderma with neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:58,001,216...58,001,519 JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP
EXP
ClinVar Annotator: match by term: Poikiloderma with neutropenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      skin disease 4862
        Genetic Skin Diseases 2461
          poikiloderma with neutropenia 2
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Hemic and Lymphatic Diseases 5692
        hematopoietic system disease 4977
          leukocyte disease 1465
            leukopenia 632
              agranulocytosis 586
                neutropenia 581
                  poikiloderma with neutropenia 2
paths to the root