Diseases — P
64 diseases in this group. Each links to a full page: the emergence switch, the forced corrective direction, mapped agents, and the firewall. Direction only — no dose.
- Pyrimidine 5-prime-nucleotidase deficiencyHOLD · ↓ DOWN · restore by supplyNT5C3A
- Pachyonychia congenitaHOLD · ↑ UP · restore by clearKRT6A
- PAPA syndromeHOLD · ↑ UP · restore by clearPSTPIP1
- Primary ciliary dyskinesiaHOLD · ↓ DOWN · restore by supplyDNAH5
- PCDH19 clustering epilepsy / EIEE9 OMIM 300088HOLD · ↓ DOWN · restore by supplyPCDH19
- Pontocerebellar hypoplasia type 1AHOLD · ↓ DOWN · restore by supplyVRK1
- Pontocerebellar hypoplasia type 2AHOLD · ↓ DOWN · restore by supplyTSEN54
- Pyruvate dehydrogenase E1-alpha deficiencyMATCH · ↓ DOWN · restore by supplyPDHA1
- Pelizaeus-Merzbacher disease, PLP1 point-mutation form OMIM…HOLD · ↓ DOWN · restore by supplyPLP1
- Pendred syndromeHOLD · ↓ DOWN · restore by supplySLC26A4
- Cytosolic phosphoenolpyruvate carboxykinase deficiencyHOLD · ↓ DOWN · restore by supplyPCK1
- Perrault syndrome 3HOLD · ↓ DOWN · restore by supplyCLPP
- Axenfeld-Rieger syndrome type 1 / Peters anomalyHOLD · ↓ DOWN · restore by supplyPITX2
- Peutz-JeghersMATCH · ↑ UP · restore by clearSTK11
- Pfeiffer syndromeNOVEL · ↑ UP · restore by clearFGFR2
- Pfeiffer syndromeHOLD · ↑ UP · restore by clearFGFR1
- Progressive familial intrahepatic cholestasis 2MATCH · ↑ UP · restore by clearABCB11
- PFIC3MATCH · ↑ UP · restore by clearABCB4
- Phosphoglycerate kinase 1 deficiencyHOLD · ↓ DOWN · restore by supplyPGK1
- PGM1-CDG OMIM 614921MATCH · ↓ DOWN · restore by supplyPGM1
- Primary hyperoxaluria type 2HOLD · ↓ DOWN · restore by supplyGRHPR
- Primary hyperoxaluria type 3HOLD · ↓ DOWN · restore by supplyHOGA1
- Autosomal recessive pseudohypoaldosteronism type 1HOLD · ↓ DOWN · restore by supplySCNN1B
- Phelan-like / IDHOLD · ↓ DOWN · restore by supplySHANK3
- PhenylketonuriaMATCH · ↓ DOWN · restore by supplyPAH
- PHIP / Chung-Jansen OMIM 617991HOLD · ↓ DOWN · restore by supplyPHIP
- PIGA deficiencyHOLD · ↓ DOWN · restore by supplyPIGA
- Pitt-Hopkins-likeHOLD · ↓ DOWN · restore by supplyCNTNAP2
- Pitt-Hopkins syndromeHOLD · ↓ DOWN · restore by supplyTCF4
- PKANHOLD · ↓ DOWN · restore by supplyPANK2
- Paroxysmal kinesigenic dyskinesiaMATCH · ↑ UP · restore by clearPRRT2
- Plasminogen deficiency, type IMATCH · ↓ DOWN · restore by supplyPLG
- PMM2-CDG OMIM 212065HOLD · ↓ DOWN · restore by supplyPMM2
- Permanent neonatal diabetes mellitusHOLD · ↑ UP · restore by clearINS
- Purine nucleoside phosphorylase deficiencyHOLD · ↓ DOWN · restore by supplyPNP
- PyridoxMATCH · ↓ DOWN · restore by supplyPNPO
- Progressive osseous heteroplasiaHOLD · ↓ DOWN · restore by supplyGNAS
- POLR3-related hypomyelinating leukodystrophyHOLD · ↓ DOWN · restore by supplyPOLR3A
- Bilateral frontoparietal polymicrogyriaHOLD · ↓ DOWN · restore by supplyADGRG1
- Pompe disease OMIM 232300MATCH · ↓ DOWN · restore by supplyGAA
- PrimaryMATCH · ↓ DOWN · restore by supplySLC22A5
- Primary ciliary dyskinesiaHOLD · ↓ DOWN · restore by supplyCCDC39
- Primary ciliary dyskinesiaHOLD · ↓ DOWN · restore by supplyDNAH11
- Primary hyperoxaluria type 1 OMIM 259900MATCH · ↑ UP · restore by clearAGXT
- Primary pulmonary hypertensionMATCH · ↑ UP · restore by clearBMPR2
- Progressive familial intrahepatic cholestasis 1MATCH · ↑ UP · restore by clearATP8B1
- Propionic acidemiaMATCH · ↑ UP · restore by clearPCCA
- Prosaposin deficiencyHOLD · ↓ DOWN · restore by supplyPSAP
- Severe hereditary protein C deficiencyMATCH · ↓ DOWN · restore by supplyPROC
- Hereditary protein S deficiencyHOLD · ↓ DOWN · restore by supplyPROS1
- Congenital prothrombinHOLD · ↓ DOWN · restore by supplyF2
- Phosphoribosylpyrophosphate synthetase superactivityMATCH · ↑ UP · restore by clearPRPS1
- PseudoachondroplasiaHOLD · ↑ UP · restore by clearCOMP
- Pseudohypoaldosteronism 1MATCH · ↓ DOWN · restore by supplyNR3C2
- Pseudoxanthoma-likeMATCH · ↓ DOWN · restore by supplyGGCX
- PUF60 / Verheij syndrome OMIM 615583HOLD · ↓ DOWN · restore by supplyPUF60
- Pulmonary alveolar proteinosisHOLD · ↑ UP · restore by clearCSF2RA
- PURA syndrome OMIM 616158HOLD · ↓ DOWN · restore by supplyPURA
- Periventricular nodular heterotopia 1HOLD · ↓ DOWN · restore by supplyFLNA
- Pseudoxanthoma elasticumMATCH · ↓ DOWN · restore by supplyABCC6
- PycnodysostosisHOLD · ↓ DOWN · restore by supplyCTSK
- Pyridoxine-dependent epilepsyMATCH · ↓ DOWN · restore by supplyALDH7A1
- Pyruvate carboxylase deficiencyHOLD · ↓ DOWN · restore by supplyPC
- Pyruvate kinase deficiencyMATCH · ↓ DOWN · restore by supplyPKLR