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ONTOLOGY REPORT - ANNOTATIONS


Term:Riddle syndrome
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Accession:DOID:0090113 term browser browse the term
Definition:An autosomal recessive disease that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: RNF168 deficiency;   radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
 primary_id: MESH:C567453
 alt_id: OMIM:611943;   RDO:0015519
 xref: ORDO:420741
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Riddle syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf168 ring finger protein 168 JBrowse link 11 71,721,242 71,743,421 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      primary immunodeficiency disease 954
        Riddle syndrome 1
Path 2
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  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              developmental disorder of mental health 2691
                specific developmental disorder 1858
                  communication disorder 212
                    learning disability 74
                      Riddle syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.