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