• C97173 Congenital Abnormality of the Respiratory System C99147 Neonatal Research Network Terminology C4376 Renal Failure Renal Failure Syndrome Acute or chronic condition, characterized by the inability of the kidneys to adequately filter the blood substances, resulting in uremia and electrolyte imbalances. (nih.gov)
  • Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2. (bvsalud.org)