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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;   RNF168-RELATED CONDITION;   radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
 primary_id: MESH:C567453
 alt_id: MIM: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		 CTD Direct Evidence: marker/mechanism
OMIM:611943
ClinVar Annotator: match by term: RIDDLE syndrome | ClinVar Annotator: match by term: RNF168-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:17940005 PMID:19203578 PMID:21394101 PMID:24033266 PMID:25741868 More... NCBI chr11:81,991,352...82,013,306
Ensembl chr11:68,486,321...68,508,277 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Riddle syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  communication disorder 419
                    learning disability 212
                      Riddle syndrome 1
paths to the root