Matches in Wikidata for { <http://www.wikidata.org/entity/Q50349689> ?p ?o ?g. }
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- Q50349689 description "congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has material basis in homozygous mutation in the TSHB gene on chromosome 1p13" @default.
- Q50349689 name "congenital nongoitrous hypothryoidism 4" @default.
- Q50349689 type Item @default.
- Q50349689 label "congenital nongoitrous hypothryoidism 4" @default.
- Q50349689 altLabel "CHNG4" @default.
- Q50349689 altLabel "congenital nongoitrous hypothyroidism 4" @default.
- Q50349689 altLabel "isolated thyrotropin deficiency" @default.
- Q50349689 prefLabel "congenital nongoitrous hypothryoidism 4" @default.
- Q50349689 P11430 Q50349689-94823ab8-4bc5-e79f-e2ec-64866068a5ef @default.
- Q50349689 P279 Q50349689-156CB563-3E5D-40F6-AC4A-732431634BB7 @default.
- Q50349689 P279 Q50349689-4AD4DE4E-5578-4A82-9800-DC2C8A5F49B0 @default.
- Q50349689 P279 Q50349689-A4C195D5-3D12-4AA8-8D17-54E15629D9F1 @default.
- Q50349689 P2888 Q50349689-48463966-C9A1-48CD-A753-2474C3FB7AC5 @default.
- Q50349689 P2888 Q50349689-89AB9848-4810-4839-9021-E407353D7E64 @default.
- Q50349689 P2892 Q50349689-8c5c9dd7-42df-6af6-d50d-3e38f7ffe663 @default.
- Q50349689 P31 Q50349689-1461A592-F71E-4698-886B-7C5B6F914692 @default.
- Q50349689 P4229 Q50349689-AD8F4DCD-FE64-4792-88AE-2859DF2328E0 @default.
- Q50349689 P4317 Q50349689-0405bfa5-495c-a3be-557d-fca9fc19eddb @default.
- Q50349689 P492 Q50349689-8DBE9E3A-DBC8-48E7-B201-F402BE8CDAED @default.
- Q50349689 P5008 Q50349689-7098AA26-6D13-4EAB-B333-95FFC9806052 @default.
- Q50349689 P665 Q50349689-AFCECD4E-BB5E-4D18-9CC5-8B925314D81A @default.
- Q50349689 P699 Q50349689-9F22722A-0721-4116-B172-87481CBDC86A @default.
- Q50349689 P665 H01699 @default.
- Q50349689 P699 DOID_DOID:0070123 @default.
- Q50349689 P11430 "DI-06483" @default.
- Q50349689 P279 Q10267817 @default.
- Q50349689 P279 Q200779 @default.
- Q50349689 P279 Q55762558 @default.
- Q50349689 P2888 DOID:0070123 @default.
- Q50349689 P2888 DOID_0070123 @default.
- Q50349689 P2892 "C0271789" @default.
- Q50349689 P31 Q112193867 @default.
- Q50349689 P4229 "E03.1" @default.
- Q50349689 P4317 "10129" @default.
- Q50349689 P492 "275100" @default.
- Q50349689 P5008 Q4099686 @default.
- Q50349689 P665 "H01699" @default.
- Q50349689 P699 "DOID:0070123" @default.