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PAH see pulmonary arterial hypertension
PAH deficiency see phenylketonuria
Pallister-Hall syndrome
PAM see potassium-aggravated myotonia
Pancreatic Diseases
pantothenate kinase-associated neurodegeneration
Paralysis
Paralysis periodica paramyotonia see paramyotonia congenita
paramyotonia congenita
Parathyroid Disorders
Parkinson disease
Parkinson's Disease see Parkinson disease
paroxysmal nocturnal hemoglobinuria
partial monosomy 17p see Smith-Magenis syndrome
Patau syndrome see trisomy 13
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome
Pattern baldness see androgenetic alopecia
paucity of interlobular bile ducts see Alagille syndrome
PC deficiency see pyruvate carboxylase deficiency
PCC deficiency see propionic acidemia
PD see Parkinson disease
PDD see Camurati-Engelmann disease
PDE see pyridoxine-dependent epilepsy
Pelizaeus-Merzbacher disease
Pelvic Horn Syndrome see nail-patella syndrome
Pendred syndrome
Pepper syndrome see Cohen syndrome
Periodic Disease see familial Mediterranean fever
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
Periodic peritonitis see familial Mediterranean fever
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peripheral Nerve Disorders
Peripheral Neurofibromatosis see neurofibromatosis type 1
periventricular heterotopia
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
Peters plus syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
PFM see enlarged parietal foramina
PGA I see autoimmune polyglandular syndrome, type 1
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria see phenylketonuria; tetrahydrobiopterin deficiency
Pheochromocytoma
Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
Phosphoethanolaminuria see hypophosphatasia
PHS see Pallister-Hall syndrome
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis see hemochromatosis
PJS see Peutz-Jeghers syndrome
PKAN see pantothenate kinase-associated neurodegeneration
PKD see polycystic kidney disease
PKU see phenylketonuria
platyspondylic lethal skeletal dysplasia, Torrance type
PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
PLSJ see juvenile primary lateral sclerosis
PMA see Charcot-Marie-Tooth disease
PMC see paramyotonia congenita
PMD see Pelizaeus-Merzbacher disease
PNPO Deficiency see pyridoxal 5'-phosphate-dependent epilepsy
PNPO-Related Neonatal Epileptic Encephalopathy see pyridoxal 5'-phosphate-dependent epilepsy
Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
Poikiloderma Congenitale see Rothmund-Thomson Syndrome
polycystic kidney disease
Polyendocrinopathies, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyglandular autoimmune syndrome, type 1 see autoimmune polyglandular syndrome, type 1
Polyglandular Type I Autoimmune Syndrome see autoimmune polyglandular syndrome, type 1
Polyposis coli see familial adenomatous polyposis
Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
Polyposis, Intestinal, II see Peutz-Jeghers syndrome
Polyps-and-spots syndrome see Peutz-Jeghers syndrome
Pompe disease
popliteal pterygium syndrome
porphyria
porphyrin disorder see porphyria
potassium-aggravated myotonia
PPH see pulmonary arterial hypertension
PPS see popliteal pterygium syndrome
PPSH see 5-alpha reductase deficiency
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
Presenile and senile dementia see Alzheimer disease
primary carnitine deficiency
Primary Hemochromatosis see hemochromatosis
Primary Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
primary hyperoxaluria
Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
Primary Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
Primary Parkinsonism see Parkinson disease
primary pulmonary hypertension see pulmonary arterial hypertension
Primary Senile Degenerative Dementia see Alzheimer disease
Primary torsion dystonia see early-onset primary dystonia
prion disease
Progeria see Hutchinson-Gilford progeria syndrome
Progeria-Like Syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
Progressive Muscular Atrophy see spinal muscular atrophy
Progressive myositis ossificans see fibrodysplasia ossificans progressiva
progressive ossifying myositis see fibrodysplasia ossificans progressiva
proline oxidase deficiency see hyperprolinemia
prolinemia see hyperprolinemia
prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
PROP see propionic acidemia
propionic acidemia
PSACH see pseudoachondroplasia
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoachondroplasia
Pseudoachondroplastic dysplasia see pseudoachondroplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome see pseudoachondroplasia
pseudoglioma congenita see Norrie disease
Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency
pseudoxanthoma elasticum
psychosine lipidosis see Krabbe disease
pulmonary arterial hypertension
Pulmonary Hypertension see pulmonary arterial hypertension
Purpura, Thrombocytopenic see thrombotic thrombocytopenic purpura
Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
PWS see Prader-Willi syndrome
PXE see pseudoxanthoma elasticum
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxamine 5-prime-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
pyridoxine-5'-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine Dependency see pyridoxine-dependent epilepsy
pyridoxine-dependent epilepsy
pyroglutamic acidemia see glutathione synthetase deficiency
pyroglutamic aciduria see glutathione synthetase deficiency
pyrroline-5-carboxylate dehydrogenase deficiency see hyperprolinemia
pyrroline carboxylate dehydrogenase deficiency see hyperprolinemia
pyruvate carboxylase deficiency
Pyruvate Metabolism, Inborn Errors see pyruvate carboxylase deficiency


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