Genetic Conditions: P

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

• 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 Pulmonary alveolar microlithiasis
• PAM, see Potassium-aggravated myotonia
• 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 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