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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
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Accession:DOID:0090007 term browser browse the term
Definition:A syndrome 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
 xref: OMIM:PS242860;   ORDO:2268


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immunodeficiency-centromeric instability-facial anomalies syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Commd7 COMM domain containing 7 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:142,099,566...142,114,348
Ensembl chr 3:142,099,251...142,114,317 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO DNA:missense mutations, nonsense mutation: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1		 OMIM
CTD
ClinVar
RGD		 PMID:3361388 PMID:9536098 PMID:10555141 PMID:10588719 PMID:10647011 More... RGD:1601084 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:141,758,466...141,798,012
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ClinVar PMID:19862844 PMID:25741868 PMID:28492532 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Nol4l nucleolar protein 4-like ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:141,884,840...142,007,668
Ensembl chr 3:141,884,840...142,008,976 		JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency ClinVar PMID:28492532 NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 ClinVar PMID:28492532 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089 		JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21596365 PMID:22786748 More... NCBI chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963 		JBrowse link
immunodeficiency-centromeric instability-facial anomalies syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7 cell division cycle associated 7 ISO ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 OMIM
ClinVar		 PMID:1999836 PMID:15952214 PMID:21596365 PMID:25741868 PMID:26216346 More... NCBI chr 3:57,322,718...57,333,353
Ensembl chr 3:57,322,708...57,333,353 		JBrowse link
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 OMIM
ClinVar		 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 21086
    syndrome 10782
      primary immunodeficiency disease 4112
        immunodeficiency-centromeric instability-facial anomalies syndrome 11
          immunodeficiency-centromeric instability-facial anomalies syndrome 1 7
          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 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        genetic disease 18173
          monogenic disease 10153
            autosomal genetic disease 9294
              autosomal recessive disease 6333
                immunodeficiency-centromeric instability-facial anomalies syndrome 11
                  immunodeficiency-centromeric instability-facial anomalies syndrome 1 7
                  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