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RIDDLE syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0012764

An autosomal recessive disease 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. [ DOID:0090113 ]

Synonyms: RNF168 deficiency RIDDLE syndrome radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17701 (Orphanet:420741)
  • OMIM:611943 (Orphanet:420741/e)
  • UMLS:C2677792 (Orphanet:420741)
  • DOID:0090113 (MONDO:equivalentTo)
  • EFO:0009055 (MONDO:equivalentTo)
  • MESH:C567453 (MONDO:equivalentTo)
  • Orphanet:420741 (OMIM:611943)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/mesh/C567453

https://omim.org/entry/611943

http://linkedlifedata.com/resource/umls/id/C2677792

http://www.orpha.net/ORDO/Orphanet_420741

http://purl.obolibrary.org/obo/DOID_0090113

has related synonym

radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

id

MONDO:0012764

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012764

Term relations