Thanatophoric Dysplasia Type 1

Cyberian Codex MONDO:0008546

Disorder

  • Name: Thanatophoric Dysplasia Type 1
  • Category: Mendelian
  • Existing deep-research providers: falcon
  • Existing evidence reference count in YAML: 3

Key Pathophysiology Nodes

  • Severe FGFR3 gain-of-function
  • Pulmonary hypoplasia
  • Deep research literature mapping

Citation Inventory (for evidence mapping)