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- Q55783092 description "This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)" @default.
- Q55783092 name "Chitty-Hall-Baraitser-Syndrom" @default.
- Q55783092 name "deafness-epiphyseal dysplasia-short stature syndrome" @default.
- Q55783092 type Item @default.
- Q55783092 label "Chitty-Hall-Baraitser-Syndrom" @default.
- Q55783092 label "deafness-epiphyseal dysplasia-short stature syndrome" @default.
- Q55783092 altLabel "Chitty-Hall-Baraitser syndrome" @default.
- Q55783092 altLabel "GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION" @default.
- Q55783092 prefLabel "Chitty-Hall-Baraitser-Syndrom" @default.
- Q55783092 prefLabel "deafness-epiphyseal dysplasia-short stature syndrome" @default.
- Q55783092 P1550 Q55783092-94CD8015-2B39-4F80-807B-3F9239B060B1 @default.
- Q55783092 P279 Q55783092-CF17FB7B-56AD-4418-A9E3-EF29DC9BEA7E @default.
- Q55783092 P279 Q55783092-DFF4C18A-5281-44F6-BD9E-C7BFC68B7819 @default.
- Q55783092 P2888 Q55783092-815BED83-B7CD-4A7D-9A53-6225D6A010C5 @default.
- Q55783092 P2892 Q55783092-AED285A4-91DD-47DD-881F-4FBAF20E54C2 @default.
- Q55783092 P31 Q55783092-0612F65F-3B17-45A3-9427-C55B891D1DD4 @default.
- Q55783092 P31 Q55783092-A0050898-8688-45D0-A37D-4602D90CB9D0 @default.
- Q55783092 P31 Q55783092-AC5B26A6-7655-4808-971D-DB813D008555 @default.
- Q55783092 P486 Q55783092-D074B5E0-83DA-466B-AFAF-5DE5B7FB4E8F @default.
- Q55783092 P492 Q55783092-3ADA584F-E9A3-403C-8E14-7480F4B5304A @default.
- Q55783092 P5270 Q55783092-C7D84F06-A5F5-4BD0-9611-9AB2728A0631 @default.
- Q55783092 P486 C535928 @default.
- Q55783092 P5270 MONDO_0011047 @default.
- Q55783092 P1550 "3218" @default.
- Q55783092 P279 Q200779 @default.
- Q55783092 P279 Q55788734 @default.
- Q55783092 P2888 Orphanet_3218 @default.
- Q55783092 P2892 "C1832438" @default.
- Q55783092 P31 Q112193867 @default.
- Q55783092 P31 Q55788864 @default.
- Q55783092 P31 Q55789477 @default.
- Q55783092 P486 "C535928" @default.
- Q55783092 P492 "601351" @default.
- Q55783092 P5270 "MONDO_0011047" @default.