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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:Riddle syndrome
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Accession:DOID:0090113 term browser browse the term
Definition:A syndrome 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: RIDL;   RNF168 deficiency;   radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
 primary_id: MESH:C567453
 alt_id: OMIM:611943
 xref: EFO:0009055;   ORDO:420741



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Riddle syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf168 ring finger protein 168 ISO
ISS
ClinVar Annotator: match by term: RIDDLE syndrome
CTD Direct Evidence: marker/mechanism
OMIM:611943
OMIM
ClinVar
CTD
MouseDO
PMID:19203578 PMID:21394101 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Riddle syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  communication disorder 402
                    learning disability 210
                      Riddle syndrome 1
paths to the root