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- Ba841ca33432d20abe796cacc52e3aa24 hasDbXref "Orphanet:1145" @default.
- Ba841ca33432d20abe796cacc52e3aa24 type Axiom @default.
- Ba841ca33432d20abe796cacc52e3aa24 annotatedProperty IAO_0000115 @default.
- Ba841ca33432d20abe796cacc52e3aa24 annotatedSource MONDO_0010532 @default.
- Ba841ca33432d20abe796cacc52e3aa24 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.