P
- PACS1-related syndrome
- PAGOD syndrome
- PAH deficiency
- PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES
- PANDAS
- PARC syndrome
- PASLI disease
- PCC deficiency
- PCDH19 FLE
- PCDH19 female epilepsy
- PCH
- PEHO syndrome
- PEPCK 1 deficiency
- PEPCK 2 deficiency
- Pachydermoperiostosis
- Pachygyria
- Pachygyria with mental retardation and seizures
- Pachygyria, frontotemporal
- Pachyonychia Congenita
- Pachyonychia congenita type 2
- Pacman dysplasia
- Paget disease of the breast
- Paget disease, extramammary
- Paget disease, juvenile
- Paine syndrome
- Palant cleft palate syndrome
- Palatopharyngeal incompetence
- Pallidopyramidal syndrome
- Pallister Killian mosaic syndrome
- Pallister Killian syndrome
- Pallister W syndrome
- Pallister-Hall syndrome
- Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- Palmoplantar keratoderma of Sybert
- Palmoplantar keratoderma, nonepidermolytic
- Palmoplantar pustulosis
- Pancreas agenesis, dorsal
- Pancreatic agenesis
- Pancreatic agenesis and congenital heart disease
- Pancreatic agenesis, congenital
- Pancreatic beta cell agenesis with neonatal diabetes mellitus
- Pancreatic cancer
- Pancreatic cancer, childhood
- Pancreatic carcinoma
- Pancreatic carcinoma, familial
- Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
- Pancreatic islet cell tumors
- Pancreatic lipase deficiency
- Pancreatic lipomatosis duodenal stenosis
- Pancreatitis, pediatric
- Pancreatoblastoma
- Panhypopituitarism
- Panniculitis nodular nonsuppurative
- Panostotic fibrous dysplasia
- Pantothenate Kinase Associated Neurodegeneration (PKAN)
- Pantothenate kinase-associated neurodegeneration
- Panuveitis
- Papillon Lefevre syndrome
- Papillorenal syndrome
- Papular mucinosis
- Paraganglioma and gastric stromal sarcoma
- Paragangliomas 1
- Paragangliomas 2
- Paragangliomas 3
- Paragangliomas 4
- Paragangliomas 5
- Paragonimiasis
- Paralysis agitans, juvenile, of Hunt
- Paramyotonia congenita
- Paramyotonia congenita of von eulenburg
- Paranasal sinus cancer, childhood
- Paraneoplastic Neurologic Disorders
- Paraneoplastic cerebellar degeneration
- Paranoid personality disorder
- Paraomphalocele
- Paraplegia
- Parastremmatic dwarfism
- Parathyroid cancer, childhood
- Parathyroid carcinoma
- Parenchymatous cortical degeneration of cerebellum
- Parietal foramina
- Parietal foramina 2
- Parietal foramina with cleidocranial dysplasia
- Paris-Trousseau thrombocytopenia
- Parkes Weber syndrome
- Paroxysmal cold hemoglobinuria
- Paroxysmal nocturnal hemoglobinuria
- Parsonage Turner syndrome
- Partial Trisomy 16
- Partial deletion of Y
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
- Partial lissencephaly
- Partial monosomy 21q
- Partington Anderson syndrome
- Partington X-linked mental retardation syndrome
- Pascual Castroviejo syndrome
- Pashayan syndrome
- Passos-Bueno syndrome
- Patella aplasia, coxa vara, tarsal synostosis
- Patella hypoplasia mental retardation
- Patent ductus arteriosus
- Patent ductus venosus
- Patterson Stevenson syndrome
- Patterson pseudoleprechaunism syndrome
- Pauciarticular chronic arthritis
- Pearson marrow-pancreas syndrome
- Pearson syndrome
- Pediatric MS
- Pediatric T-cell leukemia
- Pediatric multiple sclerosis
- Pediatric pancreatitis
- Pedroso’s disease
- Peeling skin syndrome
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, late-onset type
- Pemphigoid gestationis
- Pemphigus
- Pemphigus and fogo selvagem
- Pemphigus foliaceus
- Pemphigus vulgaris
- Pemphigus vulgaris, familial
- Pena Shokeir syndrome, type 1
- Pendred syndrome
- Penicillin-resistant Streptococcus pneumoniae
- Penile duplication (PD)
- Penis agenesis
- Penoscrotal transposition
- Pentalogy of Cantrell
- Pentosuria
- Penttinen-Aula syndrome
- Peptidic growth factors deficiency
- Periarteritis nodosa
- Pericardium absent mental retardation short stature
- Perihilar bile duct cancer
- Perihilar cholangiocarcinoma
- Perimyositis
- Periodic Paralysis
- Periodic paralysis - thyrotoxic
- Periodontitis, aggressive, 1
- Peripartum cardiomyopathy
- Peripheral T-cell lymphoma
- Peripheral dysostosis
- Perisylvian syndrome
- Peritoneal Endosalpingiosis
- Permanent neonatal diabetes mellitus
- Perniosis
- Peroneal Muscular Atrophy
- Peroxidase and phospholipid deficiency in eosinophils
- Peroxisome biogenesis disorders
- Perry syndrome
- Persistent Mullerian duct syndrome
- Persistent truncus arteriosus
- Peter's Anomaly
- Peters anomaly
- Peters plus syndrome
- Petit Fryns syndrome
- Petit mal seizures
- Petit mal, impulsive
- Peutz Jeghers syndrome
- Peutz-Jeghers Syndrome
