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(Q55783901)
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congenital prekallikrein deficiency
No description defined
PREKALLIKREIN DEFICIENCY
Pkk Deficiency
Prekallikrein deficiency, congenital
Fletcher Factor Deficiency
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
rare hemorrhagic disorder due to a constitutional coagulation factors defect
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012901
genetic association
KLKB1
2 references
stated in
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
retrieved
28 July 2018
Mondo ID
MONDO_0012901
NCI Thesaurus ID
C99022
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012901
exact match
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
retrieved
28 July 2018
Mondo ID
MONDO_0012901
KEGG ID
H01078
0 references
GARD rare disease ID
4477
1 reference
stated in
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 (foundation)
2010669339
0 references
Mondo ID
MONDO_0012901
0 references
OMIM ID
612423
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012901
Orphanet ID
749
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012901
UMLS CUI
C0272339
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012901
UniProt disease ID
DI-02188
0 references
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