Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 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 Channelopathy-associated 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 Pulmonary alveolar microlithiasis
- PAM, see Potassium-aggravated myotonia
- 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, see Parkinson's disease
- Parkinson's 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
- Parry disease, see CLN4 disease
- 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's 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, see Pearson syndrome
- Pearson syndrome
- Pediatric granulomatous arthritis, see Blau syndrome
- Peeling skin syndrome 2
- Peeling skin syndrome, acral type, see Peeling skin syndrome 2
- 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 Hailey-Hailey disease
- 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
- Perihilar cholangiocarcinoma, see Cholangiocarcinoma
- 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 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 Pitt-Hopkins syndrome
- PHS, see Pallister-Hall 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 Arginine vasopressin deficiency
- Pituitary dwarfism II, see Laron syndrome
- Pituitary-dependant Cushing syndrome, see Cushing disease
- Pituitary-dependant hypercortisolism, see Cushing disease
- Pituitary-dependant hypercortisolism disorder, see Cushing disease
- PJS, see Peutz-Jeghers syndrome
- PK deficiency, see Pyruvate kinase deficiency
- PKAN, see Pantothenate kinase-associated neurodegeneration
- PKD, see Polycystic kidney disease
- PKD, see Pyruvate kinase deficiency
- PKDYS, see Dopamine transporter deficiency syndrome
- PKK deficiency, see Prekallikrein deficiency
- PKS, see Pallister-Killian mosaic syndrome
- PKU, see Phenylketonuria
- PKWS, see Parkes Weber syndrome
- Placental aromatase deficiency, see Aromatase deficiency
- 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 dysplasia, Torrance type
- Platyspondylic dysplasia, Torrance-Luton type, see Platyspondylic dysplasia, Torrance type
- Platyspondylic dysplasia, type Torrance, COL2A1-related, see Platyspondylic dysplasia, Torrance type
- Platyspondylic lethal skeletal dysplasia, Torrance type, see Platyspondylic 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 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 Progressive myoclonic epilepsy type 1
- 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
- PNH, see Paroxysmal nocturnal hemoglobinuria
- PNKD, see Familial paroxysmal nonkinesigenic dyskinesia
- PNP deficiency, see Purine nucleoside phosphorylase deficiency
- PNPO deficiency, see Pyridoxal phosphate-responsive seizures
- PNPO-related neonatal epileptic encephalopathy, see Pyridoxal phosphate-responsive seizures
- PNPOD, see Pyridoxal phosphate-responsive seizures
- 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 epidermolysis bullosa
- 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
- 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's 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
- 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 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's disease
- Primary polycythemia, see Polycythemia vera
- Primary pulmonary hypertension, see Pulmonary arterial hypertension
- Primary sclerosing cholangitis
- Primary senile degenerative dementia, see Alzheimer's disease
- Primary spontaneous pneumothorax
- Primary thrombocythemia, see Essential thrombocythemia
- Primary thrombocytosis, see Essential thrombocythemia
- Primary torsion dystonia, see Early-onset isolated 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 1A, see Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy 1B, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
- Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy type 2, see Lafora progressive myoclonus epilepsy
- Progressive myoclonus epilepsy type 1, see Progressive myoclonic epilepsy type 1
- 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 Spondyloepiphyseal dysplasia with metatarsal shortening
- 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, see Pyridoxal phosphate-responsive seizures
- Pyridoxal phosphate-dependent seizures, see Pyridoxal phosphate-responsive seizures
- Pyridoxal phosphate-responsive seizures
- Pyridoxamine 5'-oxidase deficiency, see Pyridoxal phosphate-responsive seizures
- Pyridoxamine 5'-phosphate oxidase deficiency, see Pyridoxal phosphate-responsive seizures
- Pyridoxamine 5-prime-phosphate oxidase deficiency, see Pyridoxal phosphate-responsive seizures
- Pyridoxine dependency, see Pyridoxine-dependent epilepsy
- Pyridoxine dependency with seizures, see Pyridoxine-dependent epilepsy
- Pyridoxine-dependent epilepsy
- Pyridoxine-dependent seizures, see Pyridoxine-dependent epilepsy
- Pyridoxine-resistant seizures, PLP-sensitive, see Pyridoxal phosphate-responsive seizures
- 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