Genetic diseases-P
- 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 Congenital insensitivity to pain
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Pallister-Killian syndrome see Pallister-Killian mosaic syndrome
- palmar fascial fibromatosis see Dupuytren contracture
- palmar fibromas see Dupuytren contracture
- palmoplantar hyperkeratosis-deafness syndrome see Palmoplantar keratoderma with deafness
- palmoplantar hyperkeratosis-hearing loss syndrome see Palmoplantar keratoderma with deafness
- palmoplantar keratoderma mutilans see Vohwinkel syndrome
- palmoplantar keratoderma mutilans Vohwinkel see Vohwinkel syndrome
- Palmoplantar keratoderma with deafness
- palmoplantar keratoderma-deafness syndrome see Palmoplantar keratoderma with deafness
- palmoplantar keratoderma-hearing loss syndrome see Palmoplantar keratoderma with deafness
- PAM see Potassium-aggravated myotonia
- PAM see Pulmonary alveolar microlithiasis
- panhypopituitarism see Combined pituitary hormone deficiency
- Pantothenate kinase-associated neurodegeneration
- papillorenal syndrome see Renal coloboma syndrome
- papulopustular rosacea see Rosacea
- paragangliomas 1 see Hereditary paraganglioma-pheochromocytoma
- paragangliomas 2 see Hereditary paraganglioma-pheochromocytoma
- paragangliomas 3 see Hereditary paraganglioma-pheochromocytoma
- paragangliomas 4 see Hereditary paraganglioma-pheochromocytoma
- parahemophilia see Factor V deficiency
- paralysis periodica paramyotonia see Paramyotonia congenita
- paralytic ileus see Intestinal pseudo-obstruction
- Paramyotonia congenita
- paramyotonia congenita of von Eulenburg see Paramyotonia congenita
- parathyroid adenocarcinoma see Parathyroid cancer
- Parathyroid cancer
- parathyroid carcinoma see Parathyroid cancer
- parathyroid gland cancer see Parathyroid cancer
- parathyroid gland carcinoma see Parathyroid cancer
- parathyroid neoplasms see Parathyroid cancer
- parietal foramina see Enlarged parietal foramina
- Parkes Weber syndrome
- Parkes-Weber syndrome see Parkes Weber syndrome
- Parkinson disease
- Parkinson's disease see Parkinson 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
- 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 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
- 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 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 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 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 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 Pallister-Hall syndrome
- PHS see Pitt-Hopkins 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 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 Pyruvate kinase deficiency
- PKD see Polycystic kidney disease
- 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 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
- 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 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
- 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
- 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
- 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
- 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
- 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 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 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 eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
- 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 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 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 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
- 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
- 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 alpha/beta
- pseudo-Hurler polydystrophy see Mucolipidosis III gamma
- 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
- 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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Contributors: Prab R. Tumpati, MD