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- B8454acdb0ac40b927776c8e1fbc29d9d hasDbXref "Orphanet:1150" @default.
- B8454acdb0ac40b927776c8e1fbc29d9d type Axiom @default.
- B8454acdb0ac40b927776c8e1fbc29d9d annotatedProperty IAO_0000115 @default.
- B8454acdb0ac40b927776c8e1fbc29d9d annotatedSource MONDO_0008825 @default.
- B8454acdb0ac40b927776c8e1fbc29d9d annotatedTarget "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." @default.