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 that has_material_basis_in homozygous or compound heterozygous mutation in the 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 14823
    syndrome 4218
      primary immunodeficiency disease 930
        Riddle syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  communication disorder 214
                    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.