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- B17122b84f48313ecaa5a07de0ef7017f hasDbXref "Orphanet:1145" @default.
- B17122b84f48313ecaa5a07de0ef7017f type Axiom @default.
- B17122b84f48313ecaa5a07de0ef7017f annotatedProperty IAO_0000115 @default.
- B17122b84f48313ecaa5a07de0ef7017f annotatedSource MONDO_0010532 @default.
- B17122b84f48313ecaa5a07de0ef7017f annotatedTarget "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." @default.