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Pachydermoperiostosis
Pachyonychia Congenita
Paget’s Disease
Paget’s Disease of the Breast
Pallister Killian Mosaic Syndrome
Pallister W Syndrome
Pallister-Hall Syndrome
Pancreatic Neuroendocrine Neoplasms (pNENs)
Panniculitis, Idiopathic Nodular
Pantothenate Kinase-Associated Neurodegeneration
Papillitis
Papillon Lefèvre Syndrome
Paracoccidioidomycosis
Paramyotonia Congenita
Paraneoplastic Neurologic Syndromes
Paroxysmal Cold Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria
Parry Romberg Syndrome
Pars Planitis
Parsonage Turner Syndrome
Partial Androgen Insensitivity Syndrome
Pediatric Cardiomyopathy
Pediatric Crohn’s Disease
Pediatric Non-Small Cell Lung Cancer
Peeling Skin Syndrome
Pelizaeus Merzbacher disease
Pemphigus and Pemphigoid
Penta X Syndrome
Pentalogy of Cantrell
PEPCK Deficiency
Perniosis
Pertussis
Peutz Jeghers Syndrome
Pfeiffer Syndrome
PHACE Syndrome
Phelan-McDermid Syndrome
Phenylketonuria
Pheochromocytoma
Phosphoglycerate Kinase Deficiency
Pierre Robin Sequence
Pinta
Pitt-Hopkins Syndrome
Pityriasis Rosea
Pityriasis Rubra Pilaris
PLA2G6-Associated Neurodegeneration
Plague
Pleuropulmonary Blastoma
PMM2-CDG
Pneumocystis Pneumonia
POEMS Syndrome
Poland Syndrome
Polyarteritis Nodosa
Polycystic Liver Disease
Polycythemia Vera
Polymorphous Low-Grade Adenocarcinoma
Polymyalgia Rheumatica
Polymyositis and Necrotizing Myopathy
Pompe Disease
Pontocerebellar Hypoplasia
Porphyria
Porphyria Cutanea Tarda
Post Polio Syndrome
Post-Transplant Lymphoproliferative Disease
Posterior Uveitis
Potter Syndrome
Prader-Willi Syndrome
Precocious Puberty
Primary Biliary Cholangitis
Primary Ciliary Dyskinesia
Primary Craniosynostosis
Primary Distal Renal Tubular Acidosis
Primary Familial Brain Calcification
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Primary Mitochondrial Myopathies
Primary Myelofibrosis
Primary Orthostatic Tremor
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Primary Visual Agnosia
Proctitis
Progressive Multifocal Leukoencephalopathy
Progressive Myoclonus Epilepsy
Progressive Osseous Heteroplasia
Progressive Supranuclear Palsy
Progressive Symmetric Erythrokeratodermia
Prolactinoma
Propionic Acidemia
Protein C Deficiency
Protein S Deficiency
Proteus Syndrome
Prune Belly Syndrome
Pseudo Hurler Polydystrophy
Pseudoachondroplasia
Pseudocholinesterase Deficiency
Pseudohypoparathyroidism
Pseudomyxoma Peritonei
Pseudoxanthoma Elasticum
Psittacosis
PTEN Hamartoma Tumor Syndrome
Pterygium Syndrome, Multiple
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Pulmonary Arterial Hypertension
Pure Autonomic Failure
Pure Red Cell Aplasia, Acquired
Pycnodysostosis
Pyoderma Gangrenosum
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Kinase Deficiency
