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- Q55783207 description "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." @default.
- Q55783207 name "dyssegmental dysplasia-glaucoma syndrome" @default.
- Q55783207 type Item @default.
- Q55783207 label "dyssegmental dysplasia-glaucoma syndrome" @default.
- Q55783207 altLabel "DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA" @default.
- Q55783207 altLabel "Dyssegmental dysplasia and glaucoma" @default.
- Q55783207 prefLabel "dyssegmental dysplasia-glaucoma syndrome" @default.
- Q55783207 P1550 Q55783207-40BAC057-CF09-4AAB-B1A3-9A10F952C7B4 @default.
- Q55783207 P279 Q55783207-9FC49FED-B7C3-475F-BB68-2AD1F0DBD7F4 @default.
- Q55783207 P2888 Q55783207-6C8E9C75-D868-443D-8E54-3FADE67684D7 @default.
- Q55783207 P2892 Q55783207-C5B01D54-F427-4F9C-8FAC-84562F5053FB @default.
- Q55783207 P31 Q55783207-FBEF8A35-9C8E-483D-B7E7-4FAD8D85851C @default.
- Q55783207 P4317 Q55783207-81127590-1250-4BE6-AAB6-09B4B21482DB @default.
- Q55783207 P486 Q55783207-F588B53C-9135-4362-A545-A521476C9513 @default.
- Q55783207 P492 Q55783207-55128918-0487-4AC2-BB68-CC6A2829F350 @default.
- Q55783207 P5270 Q55783207-2DFDC370-614D-4944-96C4-C1CF10732AAD @default.
- Q55783207 P486 C563290 @default.
- Q55783207 P5270 MONDO_0011110 @default.
- Q55783207 P1550 "1804" @default.
- Q55783207 P279 Q55789219 @default.
- Q55783207 P2888 Orphanet_1804 @default.
- Q55783207 P2892 "C1832111" @default.
- Q55783207 P31 Q112193867 @default.
- Q55783207 P4317 "2025" @default.
- Q55783207 P486 "C563290" @default.
- Q55783207 P492 "601561" @default.
- Q55783207 P5270 "MONDO_0011110" @default.