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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:immunodeficiency-centromeric instability-facial anomalies syndrome 4
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Accession:DOID:0090011 term browser browse the term
Definition:An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: ICF syndrome 4;   ICF4
 primary_id: OMIM:616911
 xref: ICD10CM:D84.8


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immunodeficiency-centromeric instability-facial anomalies syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hells helicase, lymphoid specific ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21596365 PMID:25741868 PMID:26216346 PMID:28492532 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        immunodeficiency-centromeric instability-facial anomalies syndrome 10
          immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency-centromeric instability-facial anomalies syndrome 10
                  immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
paths to the root