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Metadata
ID DOID:0090113
Name RIDDLE syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/29255463, https://www.ncbi.nlm.nih.gov/pubmed/30122534, https://www.omim.org/entry/611943
Xrefs

ICD10CM:D82.8

MESH:C567453

OMIM:611943

ORDO:420741

Subsets

DO_rare_slim

Synonyms

Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome [EXACT]

RNF168 deficiency [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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