P - Health Conditions - Genetics Home Reference - NIH

P - Health Conditions - Genetics Home Reference - NIH

• 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
• 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
• 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
• 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
• 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