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, seehypermanganesemia 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 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
- 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 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
- 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
- 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
- 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 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 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 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 epilepsy with mental retardation, see Northern epilepsy
- 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
- 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
- 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
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