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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: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: WHIM syndrome 1;   WHIMS;   WHIMS1;   warts, hypogammaglobulinemia, infections, and myelokathexis;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1;   warts-hypogammaglobulinemia-infections-myelokathexis syndrome
 primary_id: MESH:C536697
 alt_id: OMIM:193670
 xref: GARD:9297;   NCI:C176819
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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM
CTD
ClinVar
RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:17803866 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        WHIM syndrome 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Urogenital Diseases 4694
        Female Urogenital Diseases and Pregnancy Complications 2220
          Female Urogenital Diseases 1842
            female reproductive system disease 1838
              Female Genital Neoplasms 747
                Uterine Neoplasms 445
                  Uterine Cervical Neoplasms 222
                    papillomavirus infectious disease 59
                      skin papilloma 40
                        WHIM syndrome 2
paths to the root