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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 1
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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: CXCR4-RELATED CONDITION;   WHIM syndrome 1;   WHIMS1;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1
 xref: GARD:9297;   MESH:C536697;   MIM:193670;   MONDO:8000006;   NCI:C176819


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WHIM syndrome 1 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
ISS		 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
CTD Direct Evidence: marker/mechanism
OMIM:193670
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      primary immunodeficiency disease 4303
        WHIM Syndrome 10
          WHIM syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      Urogenital Diseases 5267
        Female Urogenital Diseases and Pregnancy Complications 2500
          Female Urogenital Diseases 2029
            female reproductive system disease 2026
              uterine disease 512
                cervix disease 229
                  Uterine Cervical Neoplasms 229
                    papillomavirus infectious disease 62
                      skin papilloma 42
                        WHIM syndrome 1 1
paths to the root