A–Z DIRECTORY
Conditions beginning with P
- Pachyonychia congenitaAutosomal dominant
- PACS1 syndromeAutosomal dominant
- Paget disease of boneAutosomal dominant
- Pallister-Hall syndromeAutosomal dominant
- Pallister-Killian mosaic syndromeNot inherited
- Palmoplantar keratoderma with deafnessMitochondrial · Autosomal dominant
- Pantothenate kinase-associated neurodegenerationAutosomal recessive
- Paramyotonia congenitaAutosomal dominant
- Parathyroid cancerNot inherited · Autosomal dominant
- Parkes Weber syndromeAutosomal dominant
- Parkinson's diseaseAutosomal dominant, inherited from one affected parent · Autosomal recessive · Pattern unknown
- Paroxysmal extreme pain disorderAutosomal dominant
- Paroxysmal nocturnal hemoglobinuriaX-linked dominant · Autosomal dominant, or a new variant
- Partington syndromeX-linked recessive
- PDGFRA-associated chronic eosinophilic leukemiaNot inherited
- PDGFRB-associated chronic eosinophilic leukemiaPattern unknown
- Pearson syndromeNot inherited
- Peeling skin syndrome 2Autosomal recessive
- Pelizaeus-Merzbacher diseaseX-linked
- Pelizaeus-Merzbacher-like disease type 1Autosomal recessive
- Pendred syndromeAutosomal recessive
- Periventricular heterotopiaAutosomal recessive · X-linked dominant
- Permanent neonatal diabetes mellitusAutosomal dominant, or a new variant · Autosomal recessive
- Peroxisomal acyl-CoA oxidase deficiencyAutosomal recessive
- Perrault syndromeAutosomal recessive
- Perry syndromeAutosomal dominant
- Persistent Müllerian duct syndromeAutosomal recessive
- Peters anomalyAutosomal recessive · Autosomal dominant
- Peters plus syndromeAutosomal recessive
- Peutz-Jeghers syndromeAutosomal dominant
- Pfeiffer syndromeAutosomal dominant
- PGM3-congenital disorder of glycosylationAutosomal recessive
- PhenylketonuriaAutosomal recessive
- Phosphoglycerate dehydrogenase deficiencyAutosomal recessive
- Phosphoglycerate kinase deficiencyX-linked recessive
- Phosphoglycerate mutase deficiencyAutosomal recessive
- Phosphoribosylpyrophosphate synthetase superactivityX-linked dominant
- PiebaldismAutosomal dominant
- PilomatricomaPattern unknown
- Pitt-Hopkins syndromeAutosomal dominant
- Platyspondylic dysplasia, Torrance typeAutosomal dominant, or a new variant
- PLCG2-associated antibody deficiency and immune dysregulationAutosomal dominant
- PMM2-congenital disorder of glycosylationAutosomal recessive
- Poikiloderma with neutropeniaAutosomal recessive
- Pol III-related leukodystrophyAutosomal recessive
- Poland syndromePattern unknown
- Polycystic kidney diseaseAutosomal dominant · Autosomal recessive
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyAutosomal recessive
- Polycystic ovary syndromePattern unknown
- Polycythemia veraAutosomal dominant · Not inherited
- PolymicrogyriaX-linked dominant · Autosomal recessive · Autosomal dominant · X-linked recessive
- Pompe diseaseAutosomal recessive
- Pontocerebellar hypoplasiaAutosomal recessive
- Popliteal pterygium syndromeAutosomal dominant
- PorphyriaAutosomal recessive · X-linked dominant · Autosomal dominant
- Potassium-aggravated myotoniaAutosomal dominant
- Potocki-Lupski syndromeAutosomal dominant
- Potocki-Shaffer syndromeAutosomal dominant
- PPM-X syndromeX-linked
- PPP2R5D-related intellectual disabilityAutosomal dominant
- Prader-Willi syndromeNot inherited
- PreeclampsiaPattern unknown · Not inherited
- Prekallikrein deficiencyAutosomal recessive
- PRICKLE1-related progressive myoclonus epilepsy with ataxiaAutosomal dominant · Autosomal recessive
- Primary carnitine deficiencyAutosomal recessive
- Primary ciliary dyskinesiaAutosomal dominant, or a new variant · Autosomal recessive · X-linked
- Primary coenzyme Q10 deficiencyAutosomal recessive
- Primary familial brain calcificationAutosomal recessive · Autosomal dominant
- Primary hyperoxaluriaAutosomal recessive
- Primary localized cutaneous amyloidosisAutosomal recessive · Not inherited · Autosomal dominant
- Primary macronodular adrenal hyperplasiaNot inherited · Autosomal dominant
- Primary myelofibrosisNot inherited
- Primary sclerosing cholangitisPattern unknown
- Primary spontaneous pneumothoraxAutosomal dominant
- Prion diseaseAutosomal dominant
- Progressive external ophthalmoplegiaMitochondrial · Autosomal recessive · Autosomal dominant
- Progressive familial heart blockAutosomal dominant
- Progressive familial intrahepatic cholestasisAutosomal recessive
- Progressive myoclonic epilepsy type 1Autosomal recessive
- Progressive osseous heteroplasiaAutosomal dominant
- Progressive pseudorheumatoid dysplasiaAutosomal recessive
- Progressive supranuclear palsyPattern unknown · Autosomal dominant
- Prolidase deficiencyAutosomal recessive
- Proopiomelanocortin deficiencyAutosomal recessive
- Propionic acidemiaAutosomal recessive
- Prostate cancerAutosomal dominant · Not inherited · Pattern unknown
- Protein C deficiencyAutosomal dominant
- Protein S deficiencyAutosomal recessive · Autosomal dominant
- Proteus syndromePattern unknown
- Prothrombin deficiencyAutosomal recessive
- Prothrombin thrombophiliaAutosomal dominant
- Proximal 18q deletion syndromeAutosomal dominant
- PseudoachondroplasiaAutosomal dominant
- Pseudocholinesterase deficiencyAutosomal recessive · Not inherited
- Pseudohypoaldosteronism type 1Autosomal dominant · Autosomal recessive
- Pseudohypoaldosteronism type 2Autosomal dominant · Autosomal recessive
- Pseudoxanthoma elasticumAutosomal dominant · Autosomal recessive
- Psoriatic arthritisPattern unknown
- Pulmonary alveolar microlithiasisAutosomal recessive
- Pulmonary arterial hypertensionAutosomal dominant
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