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- Q55999598 description "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus" @default.
- Q55999598 name "infantile osteopetrosis with neuroaxonal dysplasia" @default.
- Q55999598 type Item @default.
- Q55999598 label "infantile osteopetrosis with neuroaxonal dysplasia" @default.
- Q55999598 altLabel "CSF1R-related brain malformation and osteopetrosis" @default.
- Q55999598 altLabel "OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY" @default.
- Q55999598 altLabel "osteoporosis and infantile neuroaxonal dystrophy" @default.
- Q55999598 prefLabel "infantile osteopetrosis with neuroaxonal dysplasia" @default.
- Q55999598 P1550 Q55999598-BC9C9519-CCD2-4C46-A319-7424DA6563E5 @default.
- Q55999598 P279 Q55999598-0D02304B-2D69-4927-A63B-2A27C05B9FA1 @default.
- Q55999598 P279 Q55999598-f84567d0-440f-2d47-d915-6690bc92cdb5 @default.
- Q55999598 P2888 Q55999598-A69C3053-1758-481A-B891-6B6F12D5B35B @default.
- Q55999598 P2888 Q55999598-D89BDC26-965C-4AD8-B416-FB929428F9DF @default.
- Q55999598 P2888 Q55999598-ED1B202A-3290-4102-9DC8-B5DA38021887 @default.
- Q55999598 P2892 Q55999598-0E51CF66-4AAB-44EB-92A4-A7D3D47896FF @default.
- Q55999598 P31 Q55999598-45220F9D-0FAE-4DE2-9C26-5B80729C18F8 @default.
- Q55999598 P4229 Q55999598-E492C9A1-55D6-40D4-8934-6C580762D6E6 @default.
- Q55999598 P486 Q55999598-006D3AB2-81CE-4CBB-902D-D66BCFADE629 @default.
- Q55999598 P492 Q55999598-165E0D33-0725-479C-8DA5-242BDEEDF051 @default.
- Q55999598 P5270 Q55999598-8C5A6459-10DE-409E-9978-F927B1467EFE @default.
- Q55999598 P699 Q55999598-A5361E1E-9511-4DCC-814B-4C13CACD5AA5 @default.
- Q55999598 P7807 Q55999598-8b735194-410b-c41c-250e-a1ea67089dbf @default.
- Q55999598 P486 C536055 @default.
- Q55999598 P5270 MONDO_0010866 @default.
- Q55999598 P699 DOID_DOID:0070343 @default.
- Q55999598 P1550 "85179" @default.
- Q55999598 P279 Q1755568 @default.
- Q55999598 P279 Q18555065 @default.
- Q55999598 P2888 DOID:0070343 @default.
- Q55999598 P2888 DOID_0070343 @default.
- Q55999598 P2888 Orphanet_85179 @default.
- Q55999598 P2892 "C1838258" @default.
- Q55999598 P31 Q112193867 @default.
- Q55999598 P4229 "Q78.2" @default.
- Q55999598 P486 "C536055" @default.
- Q55999598 P492 "600329" @default.
- Q55999598 P5270 "MONDO_0010866" @default.
- Q55999598 P699 "DOID:0070343" @default.
- Q55999598 P7807 "1434293148" @default.