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RGD uses the Human Disease Ontology (DO, 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:WHIM syndrome
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Accession:DOID:0060591 term browser browse the term
Definition:An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)
Synonyms:exact_synonym: WHIMS;   warts, hypogammaglobulinemia, infections, and myelokathexis;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome;   warts-hypogammaglobulinemia-infections-myelokathexis syndrome
 primary_id: MESH:C536697
 alt_id: OMIM:193670;   RDO:0002350
 xref: GARD:9297
For additional species annotation, visit the Alliance of Genome Resources.

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WHIM syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar Annotator: match by OMIM:193670
CTD Direct Evidence: marker/mechanism
PMID:12692554 PMID:15536153 PMID:16899028 PMID:18436740 PMID:19956569 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25662009 PMID:25741868 PMID:28166811 PMID:28492532, PMID:12692554 RGD:734860 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        WHIM syndrome 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              Female Genital Neoplasms 702
                Uterine Neoplasms 435
                  Uterine Cervical Neoplasms 219
                    papillomavirus infectious disease 54
                      skin papilloma 38
                        WHIM syndrome 2
paths to the root