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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: 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
ClinVar
OMIM
CTD
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 16937
    syndrome 7656
      primary immunodeficiency disease 2515
        WHIM syndrome 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Urogenital Diseases 4205
        Female Urogenital Diseases and Pregnancy Complications 1951
          Female Urogenital Diseases 1655
            female reproductive system disease 1651
              Female Genital Neoplasms 627
                Uterine Neoplasms 429
                  Uterine Cervical Neoplasms 217
                    papillomavirus infectious disease 52
                      skin papilloma 36
                        WHIM syndrome 2
paths to the root