ZFIN Human Disease: RIDDLE syndrome

OBO ID: DOID:0090113

Term Name:	RIDDLE syndrome		Search Ontology:
Synonyms:	Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome RNF168 deficiency
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. (3)
References:	ICD10CM:D82.8 MESH:C567453 OMIM:611943 ORDO:420741
Ontology:	Human Disease ( DOID:0090113 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER RIDDLE syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RNF168	rnf168	RIDDLE syndrome	611943

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None