Matches in Wikidata for { <http://www.wikidata.org/entity/Q30990079> ?p ?o ?g. }
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- Q30990079 description "familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP12 gene on chromosome 19q13" @default.
- Q30990079 name "Syndrome familial autoinflammatoire au froid type 2" @default.
- Q30990079 name "familial cold autoinflammatory syndrome 2" @default.
- Q30990079 type Item @default.
- Q30990079 label "Syndrome familial autoinflammatoire au froid type 2" @default.
- Q30990079 label "familial cold autoinflammatory syndrome 2" @default.
- Q30990079 altLabel "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2" @default.
- Q30990079 altLabel "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2" @default.
- Q30990079 altLabel "FCAS2" @default.
- Q30990079 altLabel "NALP12-Associated Hereditary Periodic Fever Syndrome" @default.
- Q30990079 altLabel "NAPS12" @default.
- Q30990079 altLabel "NLRP12-associated hereditary periodic fever syndrome" @default.
- Q30990079 altLabel "familial cold autoinflammatory syndrome type 2" @default.
- Q30990079 prefLabel "Syndrome familial autoinflammatoire au froid type 2" @default.
- Q30990079 prefLabel "familial cold autoinflammatory syndrome 2" @default.
- Q30990079 P11430 Q30990079-fd2ab0cb-4986-31c3-90f4-b51a2721cfb4 @default.
- Q30990079 P1550 Q30990079-4457ED22-6016-443D-BBE7-96C7F86AD95C @default.
- Q30990079 P1748 Q30990079-BC4161C5-9619-4FAF-9177-ABFAF92DE87E @default.
- Q30990079 P2293 Q30990079-A6B72D90-8B44-4BB3-8AD1-A31D67F0B7E4 @default.
- Q30990079 P279 Q30990079-0946EC51-2EB1-4AD3-BEB9-46C1F3C043BA @default.
- Q30990079 P279 Q30990079-41c287b6-42bf-172f-0df3-204c2b3a9f87 @default.
- Q30990079 P279 Q30990079-99C57B16-00E4-4E5D-A07E-B7B5C52045D2 @default.
- Q30990079 P2888 Q30990079-21897D72-CBAF-4C0F-B69E-BC5E4E366D4C @default.
- Q30990079 P2888 Q30990079-2CCE115A-D255-4185-ACC6-9484F6D36348 @default.
- Q30990079 P2892 Q30990079-6FB1084C-4B9F-4743-B103-195524418D80 @default.
- Q30990079 P2892 Q30990079-D1C695D1-D1AB-4AEA-9FBA-7E536BD941B1 @default.
- Q30990079 P31 Q30990079-8861BAAB-F454-4604-842E-6E8FCCD9DAFD @default.
- Q30990079 P31 Q30990079-F3CD6BD3-1213-497B-A51A-4117AC5B4250 @default.
- Q30990079 P4229 Q30990079-EE4D23E8-0085-42BA-B76A-65ECE4AC357E @default.
- Q30990079 P486 Q30990079-EB935678-9B46-4FD6-AC01-95D4B4474F1D @default.
- Q30990079 P486 Q30990079-EC523233-E4B7-409F-AEEB-51FE12207E8B @default.
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- Q30990079 P5008 Q30990079-474BABEB-7132-4BB0-BC01-1BAE8386832E @default.
- Q30990079 P5270 Q30990079-A1C9A790-D010-4663-8098-5F4F5B915DD1 @default.
- Q30990079 P699 Q30990079-040D0A40-407E-4536-96EB-5DC1DFE00CEB @default.
- Q30990079 P486 C567090 @default.
- Q30990079 P5270 MONDO_0012724 @default.
- Q30990079 P699 DOID_DOID:0090063 @default.
- Q30990079 P11430 "DI-01562" @default.
- Q30990079 P1550 "247868" @default.
- Q30990079 P1748 "C119043" @default.
- Q30990079 P2293 Q18048545 @default.
- Q30990079 P279 Q1835481 @default.
- Q30990079 P279 Q18553439 @default.
- Q30990079 P279 Q200779 @default.
- Q30990079 P2888 DOID:0090063 @default.
- Q30990079 P2888 DOID_0090063 @default.
- Q30990079 P2892 "C2673198" @default.
- Q30990079 P2892 "C3897034" @default.
- Q30990079 P31 Q112193867 @default.
- Q30990079 P31 Q929833 @default.
- Q30990079 P4229 "E85.0" @default.
- Q30990079 P486 "C567090" @default.
- Q30990079 P492 "611762" @default.
- Q30990079 P5008 Q4099686 @default.
- Q30990079 P5270 "MONDO_0012724" @default.
- Q30990079 P699 "DOID:0090063" @default.