About: properdin deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q7250189-1DF2DFA6-BF93-4F34-AFE7-A93972B91813 wds:Q7250189-2C0B2A3F-5170-446F-BFC7-445FD1B55FA7 wds:Q7250189-A54AFDB4-0756-4511-AF79-A833A420FFA0
exact match	http://identifiers.org/doid/DOID:0111768 http://purl.obolibrary.org/obo/DOID_0111768 http://www.orpha.net/ORDO/Orphanet_2966
Mondo ID	wds:Q7250189-E2B27819-B46E-4EA2-93F6-7F1EF613BB02
Disease Ontology ID	wds:Q7250189-E4C0BB27-47A5-4AFC-9667-F17E889CE478
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010713
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111768
Mondo ID	MONDO_0010713
Disease Ontology ID	DOID:0111768
rdfs:label	déficit en properdine (fr) properdin deficiency (en) نقص البروبيردين (ar) کمبود پروپردین (fa)
skos:prefLabel	déficit en properdine (fr) properdin deficiency (en) نقص البروبيردين (ar) کمبود پروپردین (fa)
name	déficit en properdine (fr) properdin deficiency (en) نقص البروبيردين (ar) کمبود پروپردین (fa)
instance of	wds:Q7250189-4AD16D54-D6BA-41D0-9A9C-C6D5A48059B7 wds:Q7250189-AFDB44F9-738E-4254-B800-5DC5D50D4044
instance of	class of disease rare disease
subclass of	wds:Q7250189-A86845DD-25A8-4E22-A9A5-BCF3D597CFD9 wds:Q7250189-D5AEE207-3905-433A-8D13-90FA00A94932 wds:Q7250189-ad3bfae6-4995-3b2e-1d10-7533a679d5cd
subclass of	complement deficiency X-linked recessive disease immunodeficiency due to a complement regulatory deficiency
UniProt disease ID	wds:Q7250189-9b9e6cf3-4f4a-f04f-bdf4-cabfa251dbc0
Orphanet ID	wds:Q7250189-22dc3da5-4aaa-9a88-bcc6-f3e66df7a8d0
ICD-9-CM	wds:Q7250189-7CAC7BA0-3269-4165-B3E7-4CE07F1D06C5
genetic association	wds:Q7250189-06F7DD8F-E517-4FDA-89FF-25E900D4B963
ICD-10-CM	wds:Q7250189-F4F7EFA1-ACB1-4D4E-B21C-D7264ABBC247
GARD rare disease ID	wds:Q7250189-0F517E61-2CA1-4824-AF45-3732DAF3E731
OMIM ID	wds:q7250189-3E4BE2FA-18CD-4E6F-9B12-F53EF0857B2F
UniProt disease ID	DI-02220
Orphanet ID	2966
ICD-9-CM	279.8
genetic association	CFP
ICD-10-CM	D84.1
GARD rare disease ID	4513
OMIM ID	312060
skos:altLabel	CFPD (en) Complement Factor Properdin Deficiency (en) PROPERDIN DEFICIENCY, X-LINKED (en) PROPERDIN DEFICIENCY, X-LINKED; CFPD (en) Properdin Deficiency, Type 1 (en) Properdin Deficiency, Type 2 (en) Properdin Deficiency, Type 3 (en) Properdin P Factor Deficiency (en) X-linked properdin deficiency (en)
UMLS CUI	wds:Q7250189-07AA5EF4-9075-4A55-B63C-2E3E17FDBFE4 wds:Q7250189-BB4D486C-CC8C-4481-8E15-67C7867A0D55 wds:Q7250189-F267DE7B-5CAE-4A93-AA9B-21BDFDE44D66 wds:Q7250189-F9318923-F635-43F5-825E-3D4874E41ACB
MeSH descriptor ID	wds:Q7250189-14771c8e-4018-2564-c14f-f4cb5819ca48
Microsoft Academic ID	wds:Q7250189-D2B28B96-C3A0-4467-A78C-C16FAB3CF3B8
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537241
Microsoft Academic ID	https://makg.org/entity/2910352300
UMLS CUI	C0398762 C1839454 C1839455 C1839456
MeSH descriptor ID	C537241
Microsoft Academic ID	2910352300
WikiProjectMed ID	wds:Q7250189-BFBE78C5-C3C1-4644-BCA8-17570308FBE0
WikiProjectMed ID	Properdin deficiency
is owl:sameAs of	properdin deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7250189 Properdin deficiency https://ar.wikipedia.org/wiki/%D9%86%D9%82%D8%B5_%D8%A7%D9%84%D8%A8%D8%B1%D9%88%D8%A8%D9%8A%D8%B1%D8%AF%D9%8A%D9%86 https://fa.wikipedia.org/wiki/%DA%A9%D9%85%D8%A8%D9%88%D8%AF_%D9%BE%D8%B1%D9%88%D9%BE%D8%B1%D8%AF%DB%8C%D9%86
is main subject of	Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency Properdin deficiency and meningococcal disease--identifying those most at risk Hereditary properdin deficiency in three families of Tunisian Jews Human properdin deficiency has a heterogeneous genetic background Congenital properdin deficiency and meningococcal infection Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n) Properdin deficiency in a family with fulminant meningococcal infections. Recurrent meningococcal septicaemia and properdin deficiency Properdin deficiency: molecular basis and disease association A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. Complement and immunoglobulin studies in 15 cases of chronic meningococcemia: properdin deficiency and hypoimmunoglobulinemia Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations Another Swedish family with complete properdin deficiency: association with fulminant meningococcal disease in one male family member Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. Properdin deficiency with IgA nephropathy

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