(Q55783901)

English

congenital prekallikrein deficiency

No description defined

PREKALLIKREIN DEFICIENCY
Pkk Deficiency
Prekallikrein deficiency, congenital
Fletcher Factor Deficiency

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Statements

0 references

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rare hemorrhagic disorder due to a constitutional coagulation factors defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000164344/MONDO_0012901

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

286.9

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

C99022

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_749

0 references

Identifiers

MeSH descriptor ID

C562725

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012901

Genetics Home Reference Conditions ID

prekallikrein-deficiency

0 references

ICD-10-CM

D68.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012901

ICD-11 ID (Foundation)

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q55783901)

congenital prekallikrein deficiency

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