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- Q5162309 description "Krankheit" @default.
- Q5162309 description "asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13" @default.
- Q5162309 description "malattia caratterizzata dall'associazione tra una malattia renale, una malattia oculare (la distrofia pigmentosa retinica), problemi scheletrici (displasia scheletrica, bassa statura variabile da lieve a moderata) e atassia cerebellare" @default.
- Q5162309 description "хвороба" @default.
- Q5162309 description "مرض يصيب الإنسان" @default.
- Q5162309 name "Mainzer-Saldino sendromu" @default.
- Q5162309 name "Saldino-Mainzer-Syndrom" @default.
- Q5162309 name "short-rib thoracic dysplasia 9 with or without polydactyly" @default.
- Q5162309 name "sindrome di Saldino-Mainzer" @default.
- Q5162309 name "syndrome de Saldino-Mainzer" @default.
- Q5162309 type Item @default.
- Q5162309 label "Mainzer-Saldino sendromu" @default.
- Q5162309 label "Saldino-Mainzer-Syndrom" @default.
- Q5162309 label "short-rib thoracic dysplasia 9 with or without polydactyly" @default.
- Q5162309 label "sindrome di Saldino-Mainzer" @default.
- Q5162309 label "syndrome de Saldino-Mainzer" @default.
- Q5162309 altLabel "Conorenal Syndrome" @default.
- Q5162309 altLabel "Conorenal syndrome" @default.
- Q5162309 altLabel "Mainzer-Saldino Syndrome" @default.
- Q5162309 altLabel "Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia" @default.
- Q5162309 altLabel "Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome" @default.
- Q5162309 altLabel "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY" @default.
- Q5162309 altLabel "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9" @default.
- Q5162309 altLabel "SRTD9" @default.
- Q5162309 altLabel "Saldino-Mainzer syndrome" @default.
- Q5162309 altLabel "Syndrome conorénal" @default.
- Q5162309 altLabel "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" @default.
- Q5162309 prefLabel "Mainzer-Saldino sendromu" @default.
- Q5162309 prefLabel "Saldino-Mainzer-Syndrom" @default.
- Q5162309 prefLabel "short-rib thoracic dysplasia 9 with or without polydactyly" @default.
- Q5162309 prefLabel "sindrome di Saldino-Mainzer" @default.
- Q5162309 prefLabel "syndrome de Saldino-Mainzer" @default.
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- Q5162309 P1692 Q5162309-A3FCC883-CD86-465B-9CCA-AC8EB22BDA2A @default.
- Q5162309 P1995 Q5162309-1675B0F8-AAA3-44A3-8578-2FBA80645B27 @default.
- Q5162309 P2293 Q5162309-3AD99C89-7994-4E90-A710-EBD6F2CE72F2 @default.
- Q5162309 P2293 Q5162309-B84E7940-39F8-42A6-AEEF-1AD7E68152A6 @default.
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- Q5162309 P2888 Q5162309-24251E70-7BB3-4EDD-850F-43219BDE985F @default.
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- Q5162309 P2888 Q5162309-7E438BEF-3FAD-4444-9861-AD99F44418F1 @default.
- Q5162309 P2892 Q5162309-3F99DE92-7D64-48FE-97A1-7E27347DCC86 @default.
- Q5162309 P2892 Q5162309-EBA358C4-B0D9-4FFC-BF58-1B9CB6C20539 @default.
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- Q5162309 P2581 s00880543n @default.
- Q5162309 P486 C535463 @default.
- Q5162309 P5270 MONDO_0015373 @default.
- Q5162309 P6366 2777350884 @default.
- Q5162309 P699 DOID_DOID:0110097 @default.
- Q5162309 P11430 "DI-03475" @default.
- Q5162309 P1550 "140969" @default.
- Q5162309 P1692 "759.89" @default.
- Q5162309 P1995 Q1071953 @default.
- Q5162309 P2293 Q18034635 @default.
- Q5162309 P2293 Q18038146 @default.
- Q5162309 P2581 "00880543n" @default.
- Q5162309 P279 Q10267817 @default.
- Q5162309 P279 Q4807981 @default.
- Q5162309 P2888 DOID:0110097 @default.
- Q5162309 P2888 DOID_0110097 @default.
- Q5162309 P2888 Orphanet_140969 @default.
- Q5162309 P2892 "C1849437" @default.
- Q5162309 P31 Q112193867 @default.
- Q5162309 P31 Q55788864 @default.
- Q5162309 P31 Q929833 @default.
- Q5162309 P4229 "Q87.5" @default.
- Q5162309 P4317 "8600" @default.
- Q5162309 P486 "C535463" @default.
- Q5162309 P492 "266920" @default.
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- Q5162309 P5270 "MONDO_0015373" @default.
- Q5162309 P6366 "2777350884" @default.
- Q5162309 P699 "DOID:0110097" @default.