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ONTOLOGY REPORT - ANNOTATIONS


Term:immunodeficiency-centromeric instability-facial anomalies syndrome
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Accession:DOID:0090007 term browser browse the term
Definition:An autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)
Synonyms:exact_synonym: ICF syndrome;   centromeric instability, immunodeficiency syndrome;   immunodeficiency syndrome, variable
 primary_id: MESH:C537362
 alt_id: RDO:0003193
 xref: OMIM:PS242860;   ORDO:2268
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immunodeficiency-centromeric instability-facial anomalies syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1601084
immunodeficiency-centromeric instability-facial anomalies syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 JBrowse link 20 46,199,981 46,211,930 RGD:8554872
G Zbtb24 zinc finger and BTB domain containing 24 JBrowse link 20 46,168,149 46,189,806 RGD:7240710
RGD:8554872
immunodeficiency-centromeric instability-facial anomalies syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca7 cell division cycle associated 7 JBrowse link 3 59,153,281 59,163,916 RGD:8554872
RGD:7240710
immunodeficiency-centromeric instability-facial anomalies syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hells helicase, lymphoid specific JBrowse link 1 257,901,856 257,953,889 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        immunodeficiency-centromeric instability-facial anomalies syndrome 5
          immunodeficiency-centromeric instability-facial anomalies syndrome 1 1
          immunodeficiency-centromeric instability-facial anomalies syndrome 2 2
          immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
          immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                immunodeficiency-centromeric instability-facial anomalies syndrome 5
                  immunodeficiency-centromeric instability-facial anomalies syndrome 1 1
                  immunodeficiency-centromeric instability-facial anomalies syndrome 2 2
                  immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
                  immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.