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Genetic Conditions: P
URL of this page: https://medlineplus.gov/genetics/condition-p/

Genetic Conditions: P

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

Other genetic conditions A-Z
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  • P110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, see Activated PI3K-delta syndrome
  • P11pDS, see Potocki-Shaffer syndrome
  • P450C11B1 deficiency, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
  • PA-JEB, see Epidermolysis bullosa with pyloric atresia
  • Pachyonychia congenita
  • Pachyonychia congenita syndrome, see Pachyonychia congenita
  • PACS1 syndrome
  • PACS1-related syndrome, see PACS1 syndrome
  • Paget disease of bone
  • Paget disease, bone, see Paget disease of bone
  • Paget's disease of bone, see Paget disease of bone
  • Pagetoid amyotrophic lateral sclerosis, see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  • Pagetoid neuroskeletal syndrome, see Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  • PAH, see Pulmonary arterial hypertension
  • PAH deficiency, see Phenylketonuria
  • PAI-1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
  • PAI-1D, see Complete plasminogen activator inhibitor 1 deficiency
  • PAI1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
  • Pain insensitivity, congenital, see Channelopathy-associated congenital insensitivity to pain
  • Pallister-Hall syndrome
  • Pallister-Killian mosaic syndrome
  • Pallister-Killian syndrome, see Pallister-Killian mosaic syndrome
  • Palmar fascial fibromatosis, see Dupuytren contracture
  • Palmar fibromas, see Dupuytren contracture
  • Palmoplantar hyperkeratosis-deafness syndrome, see Palmoplantar keratoderma with deafness
  • Palmoplantar hyperkeratosis-hearing loss syndrome, see Palmoplantar keratoderma with deafness
  • Palmoplantar keratoderma mutilans, see Vohwinkel syndrome
  • Palmoplantar keratoderma mutilans Vohwinkel, see Vohwinkel syndrome
  • Palmoplantar keratoderma with deafness
  • Palmoplantar keratoderma-deafness syndrome, see Palmoplantar keratoderma with deafness
  • Palmoplantar keratoderma-hearing loss syndrome, see Palmoplantar keratoderma with deafness
  • PAM, see Potassium-aggravated myotonia
  • PAM, see Pulmonary alveolar microlithiasis
  • Panhypopituitarism, see Combined pituitary hormone deficiency
  • Pantothenate kinase-associated neurodegeneration
  • Papillorenal syndrome, see Renal coloboma syndrome
  • Papulopustular rosacea, see Rosacea
  • Paragangliomas 1, see Hereditary paraganglioma-pheochromocytoma
  • Paragangliomas 2, see Hereditary paraganglioma-pheochromocytoma
  • Paragangliomas 3, see Hereditary paraganglioma-pheochromocytoma
  • Paragangliomas 4, see Hereditary paraganglioma-pheochromocytoma
  • Parahemophilia, see Factor V deficiency
  • Paralysis periodica paramyotonia, see Paramyotonia congenita
  • Paralytic ileus, see Intestinal pseudo-obstruction
  • Paramyotonia congenita
  • Paramyotonia congenita of von Eulenburg, see Paramyotonia congenita
  • Parathyroid adenocarcinoma, see Parathyroid cancer
  • Parathyroid cancer
  • Parathyroid carcinoma, see Parathyroid cancer
  • Parathyroid gland cancer, see Parathyroid cancer
  • Parathyroid gland carcinoma, see Parathyroid cancer
  • Parathyroid neoplasms, see Parathyroid cancer
  • Parietal foramina, see Enlarged parietal foramina
  • Parkes Weber syndrome
  • Parkes-Weber syndrome, see Parkes Weber syndrome
  • Parkinson disease, see Parkinson's disease
  • Parkinson's disease
  • Parkinsonism with alveolar hypoventilation and mental depression, see Perry syndrome
  • Parkinsonism-dystonia, infantile, see Dopamine transporter deficiency syndrome
  • Paroxysmal dystonic choreoathetosis, see Familial paroxysmal nonkinesigenic dyskinesia
  • Paroxysmal extreme pain disorder
  • Paroxysmal kinesigenic choreoathetosis, see Familial paroxysmal kinesigenic dyskinesia
  • Paroxysmal kinesigenic dyskinesia, see Familial paroxysmal kinesigenic dyskinesia
  • Paroxysmal nocturnal hemoglobinuria
  • Paroxysmal nonkinesigenic dyskinesia, see Familial paroxysmal nonkinesigenic dyskinesia
  • Parry disease, see CLN4 disease
  • Partial albinism with immunodeficiency, see Griscelli syndrome
  • Partial aniridia-cerebellar ataxia-oligophrenia, see Gillespie syndrome
  • Partial epilepsy with variable foci, see Familial focal epilepsy with variable foci
  • Partial facial palsy with urinary abnormalities, see Ochoa syndrome
  • Partial LCAT deficiency, see Fish-eye disease
  • Partial monosomy 17p, see Smith-Magenis syndrome
  • Partial monosomy 3p, see 3p deletion syndrome
  • Partial monosomy 4p, see Wolf-Hirschhorn syndrome
  • Partington syndrome
  • Partington X-linked mental retardation syndrome, see Partington syndrome
  • Partington-Mulley syndrome, see Partington syndrome
  • Pascual-Castroviejo syndrome, see Cerebro-facio-thoracic dysplasia
  • PASLI, see Activated PI3K-delta syndrome
  • Patau syndrome, see Trisomy 13
  • Patau's 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
  • PBD, ZSS, see Zellweger spectrum disorder
  • PBD-ZSD, see Zellweger spectrum disorder
  • PBFE deficiency, see D-bifunctional protein deficiency
  • PBT, see Piebaldism
  • PC deficiency, see Pyruvate carboxylase deficiency
  • PCC deficiency, see Propionic acidemia
  • PCCD, see Progressive familial heart block
  • PCD, see Primary ciliary dyskinesia
  • PCH, see Pontocerebellar hypoplasia
  • PCO, see Polycystic ovary syndrome
  • PCOD, see Polycystic ovary syndrome
  • PCOS, see Polycystic ovary syndrome
  • PD, see Parkinson's disease
  • PD, see Prolidase deficiency
  • PDB, see Paget disease of bone
  • PDC, see Familial paroxysmal nonkinesigenic dyskinesia
  • PDD, see Camurati-Engelmann disease
  • PDE, see Pyridoxine-dependent epilepsy
  • PDGFRA-associated chronic eosinophilic leukemia
  • PDGFRA-associated myeloproliferative neoplasm, see PDGFRA-associated chronic eosinophilic leukemia
  • PDGFRB-associated chronic eosinophilic leukemia
  • PDH deficiency, see Pyruvate dehydrogenase deficiency
  • PDHC deficiency, see Pyruvate dehydrogenase deficiency
  • Pearson marrow-pancreas syndrome, see Pearson syndrome
  • Pearson syndrome
  • Pediatric granulomatous arthritis, see Blau syndrome
  • Peeling skin syndrome 2
  • Peeling skin syndrome, acral type, see Peeling skin syndrome 2
  • Pelizaeus Merzbacher like disease, see Pelizaeus-Merzbacher-like disease type 1
  • Pelizaeus-Merzbacher disease
  • Pelizaeus-Merzbacher-like disease, see Pelizaeus-Merzbacher-like disease type 1
  • Pelizaeus-Merzbacher-like disease type 1
  • Pelletier-Leisti syndrome, see Floating-Harbor syndrome
  • Pelvic horn syndrome, see Nail-patella syndrome
  • Pemphigus, benign familial, see Hailey-Hailey disease
  • Pendred syndrome
  • Pendred's syndrome, see Pendred syndrome
  • Pentosuria, see Essential pentosuria
  • PEO, see Progressive external ophthalmoplegia
  • PEPD, see Paroxysmal extreme pain disorder
  • Pepper syndrome, see Cohen syndrome
  • Peptidase deficiency, see Prolidase deficiency
  • Perihilar cholangiocarcinoma, see Cholangiocarcinoma
  • Periodic fever, Dutch type, see Mevalonate kinase deficiency
  • Periodic neutropenia, see Cyclic neutropenia
  • Periodic vomiting, see Cyclic vomiting syndrome
  • Periorificial lentiginosis syndrome, see Peutz-Jeghers syndrome
  • Periostitis; monomelic, see Melorheostosis
  • Peripheral neurofibromatosis, see Neurofibromatosis type 1
  • Periventricular heterotopia
  • Periventricular nodular heterotopia, see Periventricular heterotopia
  • Permanent neonatal diabetes mellitus
  • Peroneal muscular atrophy, see Charcot-Marie-Tooth disease
  • Peroxidase and phospholipid deficiency in eosinophils, see Eosinophil peroxidase deficiency
  • Peroxisomal acyl-CoA oxidase deficiency
  • Peroxisomal alanine:glyoxylate aminotransferase deficiency, see Primary hyperoxaluria
  • Peroxisomal bifunctional enzyme deficiency, see D-bifunctional protein deficiency
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum, see Zellweger spectrum disorder
  • Perrault syndrome
  • PERRS, see Bradyopsia
  • Perry syndrome
  • Persistent hyperinsulinemia hypoglycemia of infancy, see Congenital hyperinsulinism
  • Persistent hyperinsulinemic hypoglycemia, see Congenital hyperinsulinism
  • Persistent Müllerian duct syndrome
  • Persistent oviduct syndrome, see Persistent Müllerian duct syndrome
  • Perthes disease, see Legg-Calvé-Perthes disease
  • Pervasive developmental disorder, see Autism spectrum disorder
  • Peters anomaly
  • Peters anomaly-short limb dwarfism syndrome, see Peters plus syndrome
  • Peters congenital glaucoma, see Peters anomaly
  • Peters plus syndrome
  • Peters' plus syndrome, see Peters plus syndrome
  • Peters'-plus syndrome, see Peters plus syndrome
  • Petit mal epilepsy, see Childhood absence epilepsy
  • Petit mal, impulsive, see Juvenile myoclonic epilepsy
  • Peutz-Jeghers polyposis, see Peutz-Jeghers syndrome
  • Peutz-Jeghers syndrome
  • PEXPD, see Paroxysmal extreme pain disorder
  • PFD, see McCune-Albright syndrome
  • Pfeiffer syndrome
  • PFKM deficiency, see Glycogen storage disease type VII
  • PFM, see Enlarged parietal foramina
  • PGA I, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
  • PGAM deficiency, see Phosphoglycerate mutase deficiency
  • PGAMM deficiency, see Phosphoglycerate mutase deficiency
  • PGK deficiency, see Phosphoglycerate kinase deficiency
  • PGK1 deficiency, see Phosphoglycerate kinase deficiency
  • PGM3 deficiency, see PGM3-congenital disorder of glycosylation
  • PGM3-CDG, see PGM3-congenital disorder of glycosylation
  • PGM3-congenital disorder of glycosylation
  • PGM3-related congenital disorder of glycosylation, see PGM3-congenital disorder of glycosylation
  • PHA1, see Pseudohypoaldosteronism type 1
  • PHAII, see Pseudohypoaldosteronism type 2
  • Phakomatosis, Sturge-Weber, see Sturge-Weber syndrome
  • Phelan-McDermid syndrome, see 22q13.3 deletion syndrome
  • Phenotypic diarrhea of infancy, see Trichohepatoenteric syndrome
  • Phenylalanine hydroxylase deficiency, see Phenylketonuria
  • Phenylalanine hydroxylase deficiency disease, see Phenylketonuria
  • Phenylketonuria
  • PHGDH deficiency, see Phosphoglycerate dehydrogenase deficiency
  • PHHI hypoglycemia, see Congenital hyperinsulinism
  • PhK deficiency, see Glycogen storage disease type IX
  • Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency, see Lowe syndrome
  • Phosphoethanolaminuria, see Hypophosphatasia
  • Phosphofructokinase deficiency, see Glycogen storage disease type VII
  • Phosphoglucomutase 3 deficiency, see PGM3-congenital disorder of glycosylation
  • Phosphoglucomutase deficiency type 3, see PGM3-congenital disorder of glycosylation
  • Phosphoglycerate dehydrogenase deficiency
  • Phosphoglycerate kinase 1 deficiency, see Phosphoglycerate kinase deficiency
  • Phosphoglycerate kinase deficiency
  • Phosphoglycerate mutase deficiency
  • Phosphomannomutase 2 deficiency, see PMM2-congenital disorder of glycosylation
  • Phosphoribosylpyrophosphate synthetase superactivity
  • Phosphorylase b kinase deficiency, see Glycogen storage disease type IX
  • Phosphorylase kinase deficiency, see Glycogen storage disease type IX
  • PHS, see Pitt-Hopkins syndrome
  • PHS, see Pallister-Hall syndrome
  • Phymatous rosacea, see Rosacea
  • Phytanic acid storage disease, see Refsum disease
  • Phytosterolaemia, see Sitosterolemia
  • Phytosterolemia, see Sitosterolemia
  • PIBIDS, see Trichothiodystrophy
  • Piebald trait, see Piebaldism
  • Piebaldism
  • Piepkorn dysplasia, see Boomerang dysplasia
  • Pierre Robin syndrome, see Isolated Pierre Robin sequence
  • Pierre Robin syndrome with fetal chondrodysplasia, see Weissenbacher-Zweymüller syndrome
  • Pierre-Robin syndrome, see Isolated Pierre Robin sequence
  • Pigmentary cirrhosis, see Hereditary hemochromatosis
  • Pigmentary retinal dystrophy, see Fundus albipunctatus
  • Pigmentary retinopathy, see Retinitis pigmentosa
  • Pignata Guarino syndrome, see T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • Pili torti and nerve deafness, see Björnstad syndrome
  • Pili torti-deafness syndrome, see Björnstad syndrome
  • Pili torti-sensorineural hearing loss, see Björnstad syndrome
  • Pili trianguli et canaliculi, see Uncombable hair syndrome
  • Pilomatricoma
  • Pilomatrixoma, see Pilomatricoma
  • Pineal hyperplasia and diabetes mellitus syndrome, see Rabson-Mendenhall syndrome
  • Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, see Rabson-Mendenhall syndrome
  • Pitt-Hopkins syndrome
  • Pituitary ACTH hypersecretion, see Cushing disease
  • Pituitary Cushing syndrome, see Cushing disease
  • Pituitary diabetes insipidus, see Arginine vasopressin deficiency
  • Pituitary dwarfism II, see Laron syndrome
  • Pituitary-dependant Cushing syndrome, see Cushing disease
  • Pituitary-dependant hypercortisolism, see Cushing disease
  • Pituitary-dependant hypercortisolism disorder, see Cushing disease
  • PJS, see Peutz-Jeghers syndrome
  • PK deficiency, see Pyruvate kinase deficiency
  • PKAN, see Pantothenate kinase-associated neurodegeneration
  • PKD, see Polycystic kidney disease
  • PKD, see Pyruvate kinase deficiency
  • PKDYS, see Dopamine transporter deficiency syndrome
  • PKK deficiency, see Prekallikrein deficiency
  • PKS, see Pallister-Killian mosaic syndrome
  • PKU, see Phenylketonuria
  • PKWS, see Parkes Weber syndrome
  • Placental aromatase deficiency, see Aromatase deficiency
  • PLAID, see PLCG2-associated antibody deficiency and immune dysregulation
  • Plant sterol storage disease, see Sitosterolemia
  • Plasma cell dyscrasia, see Multiple myeloma
  • Plasma cell myelomas, see Multiple myeloma
  • Plasma thromboplastin antecedent deficiency, see Factor XI deficiency
  • Plasminogen activator inhibitor type 1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
  • Plasminogen deficiency, type I, see Congenital plasminogen deficiency
  • Plasminogen inhibitor-1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
  • Platelet alpha granule deficiency, see Gray platelet syndrome
  • Platelet alpha-granule deficiency, see Gray platelet syndrome
  • Platelet fibrinogen receptor deficiency, see Glanzmann thrombasthenia
  • Platelet glycoprotein Ib deficiency, see Bernard-Soulier syndrome
  • Platelet granule defect, see Gray platelet syndrome
  • Platyspondylic dysplasia, Torrance type
  • Platyspondylic dysplasia, Torrance-Luton type, see Platyspondylic dysplasia, Torrance type
  • Platyspondylic dysplasia, type Torrance, COL2A1-related, see Platyspondylic dysplasia, Torrance type
  • Platyspondylic lethal skeletal dysplasia, Torrance type, see Platyspondylic dysplasia, Torrance type
  • PLCA, see Primary localized cutaneous amyloidosis
  • PLCG2 associated antibody deficiency and immune dysregulation, see PLCG2-associated antibody deficiency and immune dysregulation
  • PLCG2-associated antibody deficiency and immune dysregulation
  • Pleuropulmonary blastoma familial tumor and dysplasia syndrome, see DICER1 syndrome
  • Pleuropulmonary blastoma family tumor susceptibility syndrome, see DICER1 syndrome
  • PLO-SL, see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • PLOSL, see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • PLS, see Potocki-Lupski syndrome
  • PLSD-T, see Platyspondylic dysplasia, Torrance type
  • PLSJ, see Juvenile primary lateral sclerosis
  • PMA, see Charcot-Marie-Tooth disease
  • PMAH, see Primary macronodular adrenal hyperplasia
  • PMC, see Paramyotonia congenita
  • PMD, see Pelizaeus-Merzbacher disease
  • PMDS, see Persistent Müllerian duct syndrome
  • PME, see Progressive myoclonic epilepsy type 1
  • PME with ataxia, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • PMG, see Polymicrogyria
  • PMLD - Pelizaeus Merzbacher like disease, see Pelizaeus-Merzbacher-like disease type 1
  • PMLD1, see Pelizaeus-Merzbacher-like disease type 1
  • PMM deficiency, see PMM2-congenital disorder of glycosylation
  • PMM2-CDG, see PMM2-congenital disorder of glycosylation
  • PMM2-congenital disorder of glycosylation
  • PMP22-RAI1 contiguous gene duplication syndrome, see Yuan-Harel-Lupski syndrome
  • PNDM, see Permanent neonatal diabetes mellitus
  • Pneumothorax, see Primary spontaneous pneumothorax
  • PNH, see Paroxysmal nocturnal hemoglobinuria
  • PNKD, see Familial paroxysmal nonkinesigenic dyskinesia
  • PNP deficiency, see Purine nucleoside phosphorylase deficiency
  • PNPO deficiency, see Pyridoxal phosphate-responsive seizures
  • PNPO-related neonatal epileptic encephalopathy, see Pyridoxal phosphate-responsive seizures
  • PNPOD, see Pyridoxal phosphate-responsive seizures
  • POFD, see McCune-Albright syndrome
  • POH, see Progressive osseous heteroplasia
  • Poikiloderma atrophicans and cataract, see Rothmund-Thomson syndrome
  • Poikiloderma congenitale, see Rothmund-Thomson syndrome
  • Poikiloderma congenitale of Rothmund-Thomson, see Rothmund-Thomson syndrome
  • Poikiloderma of Kindler, see Kindler epidermolysis bullosa
  • Poikiloderma with neutropenia
  • Poikiloderma with neutropenia, Clericuzio type, see Poikiloderma with neutropenia
  • POIKTMP, see Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
  • Pokkuri death syndrome, see Brugada syndrome
  • Pol III disorder, see Pol III-related leukodystrophy
  • Pol III-related hypomyelinating leukodystrophies, see Pol III-related leukodystrophy
  • Pol III-related leukodystrophy
  • Poland anomaly, see Poland syndrome
  • Poland sequence, see Poland syndrome
  • Poland syndactyly, see Poland syndrome
  • Poland syndrome
  • Poland's anomaly, see Poland syndrome
  • Poland's syndrome, see Poland syndrome
  • POLIP, see Mitochondrial neurogastrointestinal encephalopathy disease
  • Polycystic kidney disease
  • Polycystic kidneys, medullary type, see Medullary cystic kidney disease type 1
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • Polycystic ovarian disease, see Polycystic ovary syndrome
  • Polycystic ovarian syndrome, see Polycystic ovary syndrome
  • Polycystic ovary syndrome
  • Polycystic renal disease, see Polycystic kidney disease
  • Polycythemia ruba vera, see Polycythemia vera
  • Polycythemia vera
  • Polydystrophic dwarfism, see Mucopolysaccharidosis type VI
  • Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked, see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
  • Polyglandular autoimmune syndrome, type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
  • Polyglandular type I autoimmune syndrome, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
  • Polyglucosan body disease, adult form, see Adult polyglucosan body disease
  • Polymicrogyria
  • Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, see Mitochondrial neurogastrointestinal encephalopathy disease
  • Polyostotic fibrous dysplasia, see McCune-Albright syndrome
  • Polyostotic sclerosing histiocytosis, see Erdheim-Chester disease
  • Polyposis, hamartomatous intestinal, see Peutz-Jeghers syndrome
  • Polyposis, intestinal, II, see Peutz-Jeghers syndrome
  • Polyps-and-spots syndrome, see Peutz-Jeghers syndrome
  • POMC deficiency, see Proopiomelanocortin deficiency
  • Pompe disease
  • Pompe's disease, see Pompe disease
  • Pontobulbar palsy with deafness, see Riboflavin transporter deficiency neuronopathy
  • Pontocerebellar hypoplasia
  • Poor metabolism of clopidogrel, see Clopidogrel resistance
  • Poor metabolism of coumarin, see Warfarin resistance
  • Poor metabolism of thiopurines, see Thiopurine S-methyltransferase deficiency
  • Popliteal pterygium syndrome
  • POR deficiency, see Cytochrome P450 oxidoreductase deficiency
  • PORD, see Cytochrome P450 oxidoreductase deficiency
  • Porencephaly type 1, see Familial porencephaly
  • Porphyria
  • Porphyrin disorder, see Porphyria
  • Porteous syndrome, see Renpenning syndrome
  • Portuguese polyneuritic amyloidosis, see Transthyretin amyloidosis
  • Portuguese type familial amyloid neuropathy, see Transthyretin amyloidosis
  • Postaxial acrofacial dysostosis (POADS), see Miller syndrome
  • Postinfectious acute necrotizing hemorrhagic encephalopathy, see Acute necrotizing encephalopathy type 1
  • Postural hypotension, see Orthostatic hypotension
  • Potassium-aggravated myotonia
  • Potocki-Lupski syndrome
  • Potocki-Shaffer syndrome
  • PPCA deficiency, see Galactosialidosis
  • PPH, see Pulmonary arterial hypertension
  • PPHT, see Pulmonary arterial hypertension
  • PPK mutilans Vohwinkel, see Vohwinkel syndrome
  • PPK with deafness, see Palmoplantar keratoderma with deafness
  • PPK-deafness syndrome, see Palmoplantar keratoderma with deafness
  • PPM-X syndrome
  • PPMX, see PPM-X syndrome
  • PPP2R5D-related intellectual disability
  • PPS, see Popliteal pterygium syndrome
  • PPSH, see 5-alpha reductase deficiency
  • Prader-Labhart-Willi syndrome, see Prader-Willi syndrome
  • Prader-Willi syndrome
  • Pre-eclampsia, see Preeclampsia
  • Preaxial acrofacial dysostosis, see Nager syndrome
  • Preaxial mandibulofacial dysostosis, see Nager syndrome
  • Precocious pseudopuberty, see Familial male-limited precocious puberty
  • Preeclampsia
  • Pregnancy-induced hypertension, see Preeclampsia
  • Pregnancy-related cholestasis, see Intrahepatic cholestasis of pregnancy
  • Prekallikrein deficiency
  • Premature ovarian failure 1, see Fragile X-associated primary ovarian insufficiency
  • Presbyacusia, see Age-related hearing loss
  • Presbycusis, see Age-related hearing loss
  • Presenile and senile dementia, see Alzheimer's disease
  • Presenile dementia with bone cysts, see Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • Presentey anomaly, see Eosinophil peroxidase deficiency
  • PRICKLE1-related progressive myoclonic epilepsy with ataxia, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • Primary 3-methylglutaconic aciduria, see 3-methylglutaconyl-CoA hydratase deficiency
  • Primary Addison disease, see Autoimmune Addison disease
  • Primary aldosteronism due to Conn adenoma, see Aldosterone-producing adenoma
  • Primary autosomal recessive microcephaly, see Autosomal recessive primary microcephaly
  • Primary bilateral macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia
  • Primary blepharospasm, see Benign essential blepharospasm
  • Primary carnitine deficiency
  • Primary ciliary dyskinesia
  • Primary coenzyme Q10 deficiency
  • Primary CoQ10 deficiency, see Primary coenzyme Q10 deficiency
  • Primary cutaneous amyloidosis, see Primary localized cutaneous amyloidosis
  • Primary dystonia, DYT6 type, see Dystonia 6
  • Primary endolymphatic hydrops, see Ménière disease
  • Primary erythromelalgia, see Erythromelalgia
  • Primary familial brain calcification
  • Primary familial dilated cardiomyopathy, see Familial dilated cardiomyopathy
  • Primary familial polycythemia, see Familial erythrocytosis
  • Primary familial xanthomatosis, see Lysosomal acid lipase deficiency
  • Primary familial xanthomatosis with adrenal calcification, see Lysosomal acid lipase deficiency
  • Primary GH resistance, see Laron syndrome
  • Primary growth hormone resistance, see Laron syndrome
  • Primary hemochromatosis, see Hereditary hemochromatosis
  • Primary hemophagocytic hymphohistiocytosis, see Familial hemophagocytic lymphohistiocytosis
  • Primary hyperkalemic periodic paralysis, see Hyperkalemic periodic paralysis
  • Primary hyperoxaluria
  • Primary hyperphosphatemic tumoral calcinosis, see Hyperphosphatemic familial tumoral calcinosis
  • Primary hypertension, see Hypertension
  • Primary hyperuricemia syndrome, see Lesch-Nyhan syndrome
  • Primary hypoalphalipoproteinemia, see Familial HDL deficiency
  • Primary hypokalemic periodic paralysis, see Hypokalemic periodic paralysis
  • Primary lateral sclerosis, juvenile, see Juvenile primary lateral sclerosis
  • Primary localized cutaneous amyloidosis
  • Primary macronodular adrenal hyperplasia
  • Primary myelofibrosis
  • Primary oxalosis, see Primary hyperoxaluria
  • Primary oxaluria, see Primary hyperoxaluria
  • Primary parkinsonism, see Parkinson's disease
  • Primary polycythemia, see Polycythemia vera
  • Primary pulmonary hypertension, see Pulmonary arterial hypertension
  • Primary sclerosing cholangitis
  • Primary senile degenerative dementia, see Alzheimer's disease
  • Primary spontaneous pneumothorax
  • Primary thrombocythemia, see Essential thrombocythemia
  • Primary thrombocytosis, see Essential thrombocythemia
  • Primary torsion dystonia, see Early-onset isolated dystonia
  • Primitive renal tubule syndrome, see Renal tubular dysgenesis
  • Prion disease
  • Prion protein diseases, see Prion disease
  • Prion-associated disorders, see Prion disease
  • Prion-induced disorders, see Prion disease
  • Proaccelerin deficiency, see Factor V deficiency
  • PROC deficiency, see Protein C deficiency
  • Proconvertin deficiency, see Factor VII deficiency
  • Progeria, see Hutchinson-Gilford progeria syndrome
  • Progeria of childhood, see Hutchinson-Gilford progeria syndrome
  • Progressive autonomic failure with multiple system atrophy, see Multiple system atrophy
  • Progressive bulbar palsy with sensorineural deafness, see Riboflavin transporter deficiency neuronopathy
  • Progressive cardiac conduction defect, see Progressive familial heart block
  • Progressive cardiomyopathic lentiginosis, see Noonan syndrome with multiple lentigines
  • Progressive diaphyseal dysplasia, see Camurati-Engelmann disease
  • Progressive external ophthalmoplegia
  • Progressive external ophthalmoplegia and scoliosis, see Horizontal gaze palsy with progressive scoliosis
  • Progressive familial heart block
  • Progressive familial intrahepatic cholestasis
  • Progressive intracranial arterial occlusion, see Moyamoya disease
  • Progressive intracranial occlusive arteropathy, see Moyamoya disease
  • Progressive muscular dystrophy, oculopharyngeal type, see Oculopharyngeal muscular dystrophy
  • Progressive myoclonic epilepsy 1A, see Progressive myoclonic epilepsy type 1
  • Progressive myoclonic epilepsy 1B, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • Progressive myoclonic epilepsy type 1
  • Progressive myoclonic epilepsy type 2, see Lafora progressive myoclonus epilepsy
  • Progressive myoclonus epilepsy type 1, see Progressive myoclonic epilepsy type 1
  • Progressive myoclonus epilepsy with ataxia, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • Progressive myoclonus epilepsy with renal failure, see Action myoclonus–renal failure syndrome
  • Progressive myoclonus epilepsy, Lafora type, see Lafora progressive myoclonus epilepsy
  • Progressive myositis ossificans, see Fibrodysplasia ossificans progressiva
  • Progressive osseous heteroplasia
  • Progressive ossifying myositis, see Fibrodysplasia ossificans progressiva
  • Progressive pseudorheumatoid arthropathy of childhood, see Progressive pseudorheumatoid dysplasia
  • Progressive pseudorheumatoid dysplasia
  • Progressive pseudorheumatoid dysplasia with hypoplastic toes, see Spondyloepiphyseal dysplasia with metatarsal shortening
  • Progressive scleroderma, see Systemic scleroderma
  • Progressive sclerosing poliodystrophy, see Alpers-Huttenlocher syndrome
  • Progressive supranuclear ophthalmoplegia, see Progressive supranuclear palsy
  • Progressive supranuclear palsy
  • Progressive symmetrical erythrokeratoderma of Gottron, see Erythrokeratodermia variabilis et progressiva
  • Progressive tapetochoroidal dystrophy, see Choroideremia
  • Prolidase deficiency
  • Proline oxidase deficiency, see Hyperprolinemia
  • Prolinemia, see Hyperprolinemia
  • Prolonged electroretinal response suppression, see Bradyopsia
  • Prolonged QT interval in EKG and sudden death, see Jervell and Lange-Nielsen syndrome
  • Prominent incisors-obesity-hypotonia syndrome, see Cohen syndrome
  • Proopiomelanocortin deficiency
  • PROP, see Propionic acidemia
  • Propionic acidemia
  • Propionicacidemia, see Propionic acidemia
  • Propionyl-CoA carboxylase deficiency, see Propionic acidemia
  • Prostate cancer
  • Prostate carcinoma, see Prostate cancer
  • Prostate neoplasm, see Prostate cancer
  • Prostatic cancer, see Prostate cancer
  • Prostatic carcinoma, see Prostate cancer
  • Prostatic neoplasm, see Prostate cancer
  • Protein C deficiency
  • Protein S deficiency
  • Proteus syndrome
  • Prothrombin conversion accelerator deficiency, see Factor VII deficiency
  • Prothrombin deficiency
  • Prothrombin G20210A thrombophilia, see Prothrombin thrombophilia
  • Prothrombin thrombophilia
  • Prothrombin-related thrombophilia, see Prothrombin thrombophilia
  • Proximal 11p deletion syndrome, see Potocki-Shaffer syndrome
  • Proximal 18q deletion syndrome
  • Proximal SMA, see Spinal muscular atrophy
  • PRPP synthetase overactivity, see Phosphoribosylpyrophosphate synthetase superactivity
  • PRPP synthetase superactivity, see Phosphoribosylpyrophosphate synthetase superactivity
  • PRPS1 superactivity, see Phosphoribosylpyrophosphate synthetase superactivity
  • PRS overactivity, see Phosphoribosylpyrophosphate synthetase superactivity
  • PRS superactivity, see Phosphoribosylpyrophosphate synthetase superactivity
  • PRTS, see Partington syndrome
  • PRV, see Polycythemia vera
  • PS, see Proteus syndrome
  • PSACH, see Pseudoachondroplasia
  • PSC, see Primary sclerosing cholangitis
  • Pseudo-Hurler polydystrophy, see Mucolipidosis III gamma
  • Pseudo-Hurler polydystrophy, see Mucolipidosis III alpha/beta
  • Pseudo-NALD, see Peroxisomal acyl-CoA oxidase deficiency
  • Pseudo-obstruction of intestine, see Intestinal pseudo-obstruction
  • Pseudo-Ullrich-Turner syndrome, see Noonan syndrome
  • Pseudo-Zellweger syndrome, see D-bifunctional protein deficiency
  • Pseudoachondroplasia
  • Pseudoachondroplastic dysplasia, see Pseudoachondroplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, see Pseudoachondroplasia
  • Pseudoadrenoleukodystrophy, see Peroxisomal acyl-CoA oxidase deficiency
  • Pseudoaldosteronism, see Liddle syndrome
  • Pseudocholinesterase deficiency
  • Pseudocholinesterase E1 deficiency, see Pseudocholinesterase deficiency
  • Pseudoglioma congenita, see Norrie disease
  • Pseudohermaphroditism, male, with gynecomastia, see 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Pseudohypoaldosteronism type 1
  • Pseudohypoaldosteronism type 2
  • Pseudohypoaldosteronism type I, see Pseudohypoaldosteronism type 1
  • Pseudohypoaldosteronism type II, see Pseudohypoaldosteronism type 2
  • Pseudointestinal obstruction syndrome, see Intestinal pseudo-obstruction
  • Pseudoneonatal adrenoleukodystrophy, see Peroxisomal acyl-CoA oxidase deficiency
  • Pseudoobstructive syndrome, see Intestinal pseudo-obstruction
  • Pseudoprimary hyperaldosteronism, see Liddle syndrome
  • Pseudothalidomide syndrome, see Roberts syndrome
  • Pseudotoxoplasmosis syndrome, see Aicardi-Goutières syndrome
  • Pseudovaginal perineoscrotal hypospadias, see 5-alpha reductase deficiency
  • Pseudoxanthoma elasticum
  • Psoriatic arthritis
  • Psoriatic arthropathy, see Psoriatic arthritis
  • PSP, see Primary spontaneous pneumothorax
  • PSP, see Progressive supranuclear palsy
  • Psychosine lipidosis, see Krabbe disease
  • PTA deficiency, see Factor XI deficiency
  • PTD, see Björnstad syndrome
  • Pterygium syndrome, see Multiple pterygium syndrome
  • PTHS, see Pitt-Hopkins syndrome
  • PTLS, see Potocki-Lupski syndrome
  • Ptosis of eyelids with diastasis recti and hip dysplasia, see 3MC syndrome
  • Ptosis-strabismus-rectus abdominis diastasis, see 3MC syndrome
  • Pubertas praecox, see Familial male-limited precocious puberty
  • Pulmonary alveolar microlithiasis
  • Pulmonary arterial hypertension
  • Pulmonary cancer, see Lung cancer
  • Pulmonary carcinoma, see Lung cancer
  • Pulmonary neoplasms, see Lung cancer
  • Pulmonary surfactant metabolism dysfunction, see Surfactant dysfunction
  • Pulmonary veno-occlusive disease
  • Pulmonary venoocclusive disease, see Pulmonary veno-occlusive disease
  • PURA syndrome
  • PURA-related neurodevelopmental disorder, see PURA syndrome
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, see PURA syndrome
  • Pure gonadal dysgenesis 46,XY, see Swyer syndrome
  • Pure hereditary red cell aplasia, see Diamond-Blackfan anemia
  • Puretic syndrome, see Hyaline fibromatosis syndrome
  • Purine nucleoside phosphorylase deficiency
  • Purpura, thrombotic thrombocytopenic, see Thrombotic thrombocytopenic purpura
  • Purtilo syndrome, see X-linked lymphoproliferative disease
  • PV, see Polycythemia vera
  • PVOD, see Pulmonary veno-occlusive disease
  • PWS, see Prader-Willi syndrome
  • PXE, see Pseudoxanthoma elasticum
  • PYGM deficiency, see Glycogen storage disease type V
  • Pykno-epilepsy, see Childhood absence epilepsy
  • Pyknolepsy, see Childhood absence epilepsy
  • Pyle disease
  • Pyle metaphyseal dysplasia, see Pyle disease
  • Pyle's disease, see Pyle disease
  • Pyle's metaphyseal dysplasia syndrome, see Pyle disease
  • Pyogenic bacterial infections due to MyD88 deficiency, see MyD88 deficiency
  • Pyridoxal 5′-phosphate-dependent epilepsy, see Pyridoxal phosphate-responsive seizures
  • Pyridoxal phosphate-dependent seizures, see Pyridoxal phosphate-responsive seizures
  • Pyridoxal phosphate-responsive seizures
  • Pyridoxamine 5'-oxidase deficiency, see Pyridoxal phosphate-responsive seizures
  • Pyridoxamine 5'-phosphate oxidase deficiency, see Pyridoxal phosphate-responsive seizures
  • Pyridoxamine 5-prime-phosphate oxidase deficiency, see Pyridoxal phosphate-responsive seizures
  • Pyridoxine dependency, see Pyridoxine-dependent epilepsy
  • Pyridoxine dependency with seizures, see Pyridoxine-dependent epilepsy
  • Pyridoxine-dependent epilepsy
  • Pyridoxine-dependent seizures, see Pyridoxine-dependent epilepsy
  • Pyridoxine-resistant seizures, PLP-sensitive, see Pyridoxal phosphate-responsive seizures
  • Pyroglutamic acidemia, see Glutathione synthetase deficiency
  • Pyroglutamic aciduria, see Glutathione synthetase deficiency
  • Pyrroline carboxylate dehydrogenase deficiency, see Hyperprolinemia
  • Pyrroline-5-carboxylate dehydrogenase deficiency, see Hyperprolinemia
  • Pyruvate carboxylase deficiency
  • Pyruvate carboxylase deficiency disease, see Pyruvate carboxylase deficiency
  • Pyruvate dehydrogenase complex deficiency, see Pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase deficiency
  • Pyruvate kinase deficiency
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