Matches in Wikidata for { <http://www.wikidata.org/entity/Q50349623> ?p ?o ?g. }
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- Q50349623 description "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1." @default.
- Q50349623 name "autosomal dominant non-syndromic intellectual disability 19" @default.
- Q50349623 name "avtosomno dominantna nesindromska intelektualna oviranost 19" @default.
- Q50349623 type Item @default.
- Q50349623 label "autosomal dominant non-syndromic intellectual disability 19" @default.
- Q50349623 label "avtosomno dominantna nesindromska intelektualna oviranost 19" @default.
- Q50349623 altLabel "CTNNB1-related intellectual disability" @default.
- Q50349623 altLabel "Intellectual disability, autosomal dominant 19" @default.
- Q50349623 altLabel "MENTAL RETARDATION, AUTOSOMAL DOMINANT 19" @default.
- Q50349623 altLabel "MRD19" @default.
- Q50349623 altLabel "Mental Retardation, Autosomal Dominant type 19" @default.
- Q50349623 altLabel "Severe intellectual disability-progressive spastic diplegia syndrome" @default.
- Q50349623 altLabel "autosomal dominant mental retardation 19" @default.
- Q50349623 altLabel "neurodevelopmental disorder with spastic diplegia and visual defects" @default.
- Q50349623 prefLabel "autosomal dominant non-syndromic intellectual disability 19" @default.
- Q50349623 prefLabel "avtosomno dominantna nesindromska intelektualna oviranost 19" @default.
- Q50349623 P1550 Q50349623-3AFA27EF-8EBD-45B4-8510-AEA190B84C6E @default.
- Q50349623 P1748 Q50349623-2bb02ffb-4496-f56d-8ead-68988a189097 @default.
- Q50349623 P2293 Q50349623-C31F65E6-871D-4CEB-B432-F6BB1D3C2BB1 @default.
- Q50349623 P279 Q50349623-44D242DD-1B4E-4FB0-A963-C2BD3EB0BA4E @default.
- Q50349623 P279 Q50349623-68367C73-9147-4203-9D20-A3675CA9C6FE @default.
- Q50349623 P279 Q50349623-94050305-6310-4775-9079-532ACC9191DF @default.
- Q50349623 P2888 Q50349623-73D7D643-5939-4F4F-822E-8D9D93043C53 @default.
- Q50349623 P2888 Q50349623-C73ADB5E-2795-443D-99C5-B118EA13F8CB @default.
- Q50349623 P2888 Q50349623-D4DC63DC-ACDF-4675-AB1E-3A777D3DE566 @default.
- Q50349623 P2892 Q50349623-17AD4F5C-4757-4184-9AC7-B8427A24284D @default.
- Q50349623 P2892 Q50349623-82DAAF61-DC23-444C-AC38-260C8C27FD36 @default.
- Q50349623 P31 Q50349623-33870B90-A86A-44A2-8C30-3C4D5046B4D9 @default.
- Q50349623 P31 Q50349623-45696FD6-C913-4868-8495-09C2C9413E3A @default.
- Q50349623 P31 Q50349623-EF5E818F-BCE4-48CC-9A0E-5FEFBBF1EA5B @default.
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- Q50349623 P5008 Q50349623-8901CF45-C201-4EF6-8924-916DF227FB66 @default.
- Q50349623 P5270 Q50349623-CA189E8C-1065-411A-8C05-443B720DAA57 @default.
- Q50349623 P699 Q50349623-0722BE21-2915-4C4B-8624-411707C3AF01 @default.
- Q50349623 P5270 MONDO_0014035 @default.
- Q50349623 P699 DOID_DOID:0070049 @default.
- Q50349623 P1550 "404473" @default.
- Q50349623 P1748 "C176897" @default.
- Q50349623 P2293 Q14902794 @default.
- Q50349623 P279 Q19587382 @default.
- Q50349623 P279 Q55785288 @default.
- Q50349623 P279 Q55785866 @default.
- Q50349623 P2888 DOID:0070049 @default.
- Q50349623 P2888 DOID_0070049 @default.
- Q50349623 P2888 Orphanet_404473 @default.
- Q50349623 P2892 "C3554449" @default.
- Q50349623 P2892 "C5190576" @default.
- Q50349623 P31 Q112193867 @default.
- Q50349623 P31 Q55788864 @default.
- Q50349623 P31 Q929833 @default.
- Q50349623 P4229 "G11.4" @default.
- Q50349623 P4317 "3505" @default.
- Q50349623 P492 "615075" @default.
- Q50349623 P5008 Q4099686 @default.
- Q50349623 P5270 "MONDO_0014035" @default.
- Q50349623 P699 "DOID:0070049" @default.