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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 1
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Accession:DOID:0090008 term browser browse the term
Definition:An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)
Synonyms:exact_synonym: CENTROMERIC INSTABILITY OF CHROMOSOMES 1,9 AND 16 AND IMMUNODEFICIENCY;   CIID;   ICF syndrome 1;   ICF1;   IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
 primary_id: OMIM:242860
 xref: NCI:C156430


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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
ISS		 DNA:missense mutations, nonsense mutation: :multiple
CTD Direct Evidence: marker/mechanism
OMIM:242860
ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:3361388 PMID:9536098 PMID:10555141 PMID:10588719 PMID:10647011 More... RGD:1601084 NCBI chr 3:142,130,588...142,169,128
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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      primary immunodeficiency disease 4153
        immunodeficiency-centromeric instability-facial anomalies syndrome 10
          immunodeficiency-centromeric instability-facial anomalies syndrome 1 6
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal recessive disease 6585
                immunodeficiency-centromeric instability-facial anomalies syndrome 10
                  immunodeficiency-centromeric instability-facial anomalies syndrome 1 6
paths to the root