Health Conditions - Genetics Home Reference | P [p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, see activated PI3K-delta syndrome]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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
• 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
• pain insensitivity, congenital, see 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
• 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
• parietal foramina, see enlarged parietal foramina
• Parkes Weber syndrome
• Parkes-Weber syndrome, see Parkes Weber syndrome
• Parkinson disease
• Parkinson's disease, see Parkinson disease
• parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease, see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• 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
• 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
• 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
• PD, see prolidase deficiency
• PD, see Parkinson disease
• 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
• Pearson syndrome, see Pearson marrow-pancreas syndrome
• pediatric granulomatous arthritis, see Blau syndrome
• peeling skin syndrome, acral type, see acral peeling skin syndrome
• Pelizaeus-Merzbacher disease
• Pelletier-Leisti syndrome, see Floating-Harbor syndrome
• pelvic horn syndrome, see nail-patella syndrome
• pemphigus, benign familial, see benign chronic pemphigus
• 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
• periodic fever, Dutch type, see mevalonate kinase deficiency
• periodic neutropenia, see cyclic neutropenia
• Periodic paralysis, potassium-sensitive cardiodysrhythmic type, see Andersen-Tawil syndrome
• periodic vomiting, see cyclic vomiting syndrome
• periorificial lentiginosis syndrome, see Peutz-Jeghers syndrome
• 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
• 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, 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
• 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 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
• 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
• 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 neurohypophyseal diabetes insipidus
• 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
• plant sterol storage disease, see sitosterolemia
• plasma cell dyscrasia, see multiple myeloma
• plasma cell myelomas, see multiple myeloma
• plasminogen deficiency, type I, see congenital plasminogen 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 chondrodysplasia, Torrance-Luton type, see platyspondylic lethal skeletal dysplasia, Torrance type
• platyspondylic lethal skeletal dysplasia, Torrance type
• platyspondylic skeletal dysplasia, Torrance type, see platyspondylic lethal skeletal dysplasia, Torrance type
• PLCA, see primary localized cutaneous amyloidosis
• 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
• PLSD-T, see platyspondylic lethal skeletal dysplasia, Torrance type
• PLSD-TL, see platyspondylic lethal skeletal 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 Unverricht-Lundborg disease
• PME with ataxia, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• PMG, see polymicrogyria
• PMM deficiency, see PMM2-congenital disorder of glycosylation
• PMM2-CDG, see PMM2-congenital disorder of glycosylation
• PMM2-congenital disorder of glycosylation
• PNDM, see permanent neonatal diabetes mellitus
• pneumothorax, see primary spontaneous pneumothorax
• PNKD, see familial paroxysmal nonkinesigenic dyskinesia
• PNP deficiency, see purine nucleoside phosphorylase deficiency
• PNPO Deficiency, see pyridoxal 5'-phosphate-dependent epilepsy
• PNPO-Related Neonatal Epileptic Encephalopathy, see pyridoxal 5'-phosphate-dependent epilepsy
• 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 syndrome
• 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 renal disease, see polycystic kidney disease
• polycythemia ruba vera, see polycythemia vera
• polycythemia vera
• Polydystrophic Dwarfism, see mucopolysaccharidosis type VI
• 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
• Polymicrogyria with muscular dystrophy, see Fukuyama congenital muscular dystrophy
• 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
• potassium-aggravated myotonia
• 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
• 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
• Presenile and senile dementia, see Alzheimer 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
• Prieur-Griscelli syndrome, see neonatal onset multisystem inflammatory disease
• primary 3-methylglutaconic aciduria, see 3-methylglutaconyl-CoA hydratase deficiency
• primary Addison disease, see autoimmune Addison disease
• 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 eosinophilia with chronic myeloproliferative disorder, see PDGFRB-associated chronic eosinophilic leukemia
• primary erythromelalgia, see erythromelalgia
• 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 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 disease
• primary polycythemia, see polycythemia vera
• primary pulmonary hypertension, see pulmonary arterial hypertension
• primary sclerosing cholangitis
• Primary Senile Degenerative Dementia, see Alzheimer disease
• primary spontaneous pneumothorax
• primary thrombocythemia, see essential thrombocythemia
• primary thrombocytosis, see essential thrombocythemia
• Primary torsion dystonia, see early-onset primary 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 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 atrophy, see spinal muscular atrophy
• Progressive muscular dystrophy, oculopharyngeal type, see oculopharyngeal muscular dystrophy
• progressive myoclonic epilepsy, see Unverricht-Lundborg disease
• progressive myoclonic epilepsy 1B, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• progressive myoclonic epilepsy type 2, see Lafora progressive myoclonus epilepsy
• progressive myoclonus epilepsy 1, see Unverricht-Lundborg disease
• 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 Czech dysplasia
• 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
• 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
• proximal 11p deletion syndrome, see Potocki-Shaffer syndrome
• proximal 18q deletion syndrome
• 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-TORCH syndrome, see Aicardi-Goutieres syndrome
• 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-Goutieres syndrome
• pseudovaginal perineoscrotal hypospadias, see 5-alpha reductase deficiency
• pseudoxanthoma elasticum
• psoriatic arthritis
• psoriatic arthropathy, see psoriatic arthritis
• PSP, see progressive supranuclear palsy
• PSP, see primary spontaneous pneumothorax
• psychosine lipidosis, see Krabbe disease
• PTD, see Björnstad syndrome
• pterygium syndrome, see multiple pterygium syndrome
• PTHS, see Pitt-Hopkins syndrome
• ptosis of eyelids with diastasis recti and hip dysplasia, see 3MC syndrome
• ptosis-strabismus-rectus addominis 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
• pure gonadal dysgenesis 46,XY, see Swyer syndrome
• pure hereditary red cell aplasia, see Diamond-Blackfan anemia
• Puretic syndrome, see juvenile hyaline fibromatosis
• 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
• 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
• pyridoxamine 5-prime-phosphate oxidase deficiency, see pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine Dependency, see pyridoxine-dependent epilepsy
• pyridoxine dependency, see pyridoxine-dependent epilepsy
• pyridoxine dependency with seizures, see pyridoxine-dependent epilepsy
• pyridoxine-5'-phosphate oxidase deficiency, see pyridoxal 5'-phosphate-dependent epilepsy
• pyridoxine-dependent epilepsy
• pyridoxine-dependent seizures, see pyridoxine-dependent epilepsy
• 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