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- Bf933da294f4c13caf3cdd59db3505765 hasDbXref "Orphanet:466926" @default.
- Bf933da294f4c13caf3cdd59db3505765 type Axiom @default.
- Bf933da294f4c13caf3cdd59db3505765 annotatedProperty IAO_0000115 @default.
- Bf933da294f4c13caf3cdd59db3505765 annotatedSource MONDO_0014731 @default.
- Bf933da294f4c13caf3cdd59db3505765 annotatedTarget "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." @default.