Commit fec787c
Add Noonan Syndrome disorder entry with debundled pathophysiology
- New disorder entry for Noonan syndrome (MONDO:0018997)
- Pathophysiology decomposed into atomic processes per issue #164:
- SHP2 Gain-of-Function Activation
- SOS1-Mediated RAS-GTP Loading
- RAF1 Kinase Hyperactivation
- RIT1-Mediated RAF Recruitment
- LZTR1-Mediated RAS Proteostasis Defect
- ERK Cascade Hyperactivation (convergent hub)
- Cardiac Valve Morphogenesis Defects
- Cardiomyocyte Hypertrophy
- Explicit causal edges via `downstream` slot creating queryable graph
- 16 phenotypes with HPO terms
- 6 genes with HGNC terms (PTPN11, SOS1, RAF1, RIT1, KRAS, LZTR1)
- 6 treatments with MAXO terms
- Evidence from landmark papers (PMIDs: 11992261, 17143285, 17603483, 23791108)
- Includes deep research results (Falcon provider)
Co-Authored-By: Claude Opus 4.5 <noreply@anthropic.com>1 parent b9df67f commit fec787c
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