(Q17152451)

English

PASLI Disease

human disease

IMD36
immunodeficiency 36
immunodeficiency type 36
senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
PIK3R1-associated immunodeficiency

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Statements

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autosomal dominant disease

1 reference

30 November 2020

combined immunodeficiency

1 reference

30 November 2020

3 references

13 August 2019

A human immunodeficiency caused by mutations in the PIK3R1 gene

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40c5f722-d25e-46b1-8a52-c407d1c64e63-2021-07-22T195122.034Z

PIK3CD

1 reference

stated in

Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology

NCI Thesaurus ID

C176703

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_397596

0 references

http://purl.obolibrary.org/obo/DOID_0111949

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111949

1 reference

stated in

Identifiers.org

reference URL

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

said to be the same as

activated PI3K delta syndrome

1 reference

reference URL

https://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=397596

Identifiers

1 reference

30 November 2020

0 references

Microsoft Academic ID

0 references

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0014453

Sitelinks

Wikipedia(1 entry)

enwiki PASLI disease

(Q17152451)

PASLI Disease

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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