(Q30989182)

English

RIDDLE syndrome

human disease

Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
RNF168 deficiency
Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties
RIDDLE SYNDROME

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

autosomal recessive disease

1 reference

29 November 2020

autosomal recessive cerebellar ataxia

0 references

autosomal recessive cerebellar ataxia due to a DNA repair defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0012764

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2020

2 references

13 August 2019

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

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

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0090113

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C567453

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

28 August 2019

0 references

1 reference

29 November 2020

Google Knowledge Graph ID

0 references

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Sitelinks

Wikipedia(1 entry)

enwiki RIDDLE syndrome

(Q30989182)

RIDDLE syndrome

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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