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Rare conditions starting with P
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534 conditions starting with P
- Pachygyria-intellectual disability-epilepsy syndrome
- Pachyonychia congenita syndrome
- Pacman dysplasia
- Paget disease of bone 3
- Paget disease of the nipple
- PAGOD syndrome
- Pagon stephan syndrome
- Pai syndrome
- Painful legs and moving toes syndrome
- Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Pallister-Hall syndrome
- Pallister-Killian syndrome
- Pallister-W syndrome
- Palmer pagon syndrome
- Palmoplantar keratoderma i, striate, focal, or diffuse
- Palmoplantar keratoderma-deafness syndrome
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- Palmoplantar keratoderma-spastic paralysis syndrome
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- Palmoplantar keratoderma, Bothnian type
- Palmoplantar keratoderma, Nagashima type
- Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- Palmoplantar pustulosis
- Pancreatic agenesis
- Pancreatic agenesis-holoprosencephaly syndrome
- Pancreatic colipase deficiency
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Pancreatic insufficiency-anemia-hyperostosis syndrome
- Pancreatic insulin-producing neuroendocrine tumor
- Pancreatic triacylglycerol lipase deficiency
- Pancreatoblastoma
- Pancytopenia due to IKZF1 mutations
- Pancytopenia-developmental delay syndrome
- PANDAS
- Panhypopituitarism
- Panhypopituitarism, X-linked
- Panuveitis
- Papillary renal cell carcinoma
- Papillon-Lefèvre syndrome
- Paracoccidioidomycosis
- Paraganglioma
- Parainfluenza virus type 3 infectious disease
- Paramedian nasal cleft
- Paramyotonia congenita of Von Eulenburg
- Parana hard-skin syndrome
- Paranasal sinus carcinoma
- Paraneoplastic cerebellar degeneration
- Paraneoplastic pemphigus
- Paraomphalocele
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- Parastremmatic dwarfism
- Parathyroid carcinoma
- Paratyphoid fever
- PARC syndrome
- Parietal foramina
- Parietal foramina with cleidocranial dysplasia
- Paris-Trousseau thrombocytopenia
- Parkinson disease 17
- Parkinson disease 3, autosomal dominant
- Parkinson disease, late-onset
- Parkinsonian-pyramidal syndrome
- Parkinsonism-dystonia, infantile
- Paroxysmal cold hemoglobinuria
- Paroxysmal dyskinesia
- Paroxysmal extreme pain disorder
- Paroxysmal familial ventricular fibrillation
- Paroxysmal Hemicrania
- Paroxysmal nonkinesigenic dyskinesia
- Pars planitis
- Partial androgen insensitivity syndrome
- Partial atrioventricular canal
- Partial chromosome Y deletion
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- Partial duplication of the long arm of chromosome X
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
- Partington syndrome
- Patella aplasia/hypoplasia
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome
- Paternal uniparental disomy of chromosome 1
- Paternal uniparental disomy of chromosome 13
- Paternal uniparental disomy of chromosome 14
- Paternal uniparental disomy of chromosome 20
- Paternal uniparental disomy of chromosome 21
- Paternal uniparental disomy of chromosome 5
- Paternal uniparental disomy of chromosome 6
- Paternal uniparental disomy of chromosome 7
- Paternal uniparental disomy of chromosome X
- Patterned dystrophy of the retinal pigment epithelium
- Patterned macular dystrophy 3
- Patterson-Stevenson-Fontaine syndrome
- PCWH syndrome
- PDA1
- Pearson syndrome
- Pectus excavatum-macrocephaly-dysplastic nails syndrome
- Pediatric acute-onset neuropsychiatric syndrome
- Pediatric hepatocellular carcinoma
- Pediatric multiple sclerosis
- Peeling skin syndrome
- Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- PEHO syndrome
- PEHO-like syndrome
- Pelger-Huët anomaly
- Pelizaeus Merzbacher like disease
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, classic form
- Pelizaeus-Merzbacher disease, connatal form
- Pellagra
- Pellagra-like syndrome
- Pellucid marginal degeneration
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- Pelvis syndrome
- Pelvis-shoulder dysplasia
- Pelviscapular dysplasia
- Pemphigoid
- Pemphigus
- Pemphigus and fogo selvagem
- Pemphigus foliaceus
- Pemphigus vulgaris
- Pendred syndrome
- Penile agenesis
- Penile cancer
- Penoscrotal transposition
- PENS syndrome
- Pentalogy of Cantrell
- Pentasomy X
- Pericardial and diaphragmatic defect
- Pericardial mesothelioma
- Perifolliculitis capitis abscedens et suffodiens
- Perinatal lethal hypophosphatasia
- Perineurioma
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome
- Periodic paralysis with later-onset distal motor neuropathy
- Peripartum cardiomyopathy
- Peripheral dysostosis
- Peripheral motor neuropathy-dysautonomia syndrome
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Peripheral resistance to thyroid hormones
- Peritoneal multicystic mesothelioma
- Periventricular nodular heterotopia
- Perlman syndrome
- Permanent neonatal diabetes mellitus
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- Pernicious anemia
- Peroxisomal single enzyme/protein defect
- Peroxisome biogenesis disorder
- Peroxisome biogenesis disorder 4B
- Perrault syndrome
- Perry syndrome
- Persistent hyperplastic primary vitreous
- Persistent Mullerian duct syndrome
- Persistent placoid maculopathy
- Persistent truncus arteriosus
- Pertussis
- Peters plus syndrome
- Pettigrew syndrome
- Peutz-Jeghers syndrome
- PFAPA syndrome
- Pfeiffer syndrome
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Pfeiffer-Palm-Teller syndrome
- PGM1-congenital disorder of glycosylation
- PHACE syndrome
- Phakomatosis pigmentokeratotica
- Phalangeal microgeodic syndrome
- PHARC syndrome
- PHAVER syndrome
- Phelan-McDermid syndrome
- Phenylketonuria
- Pheochromocytoma
- Pheochromocytoma-paraganglioma
- Pheochromocytoma/paraganglioma syndrome 1
- Pheochromocytoma/paraganglioma syndrome 2
- Pheochromocytoma/paraganglioma syndrome 3
- Pheochromocytoma/paraganglioma syndrome 4
- PHGDH deficiency
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- Phosphoenolpyruvate carboxykinase (GTP) deficiency
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- Phosphoribosylpyrophosphate synthetase deficiency
- Phosphoribosylpyrophosphate synthetase superactivity
- Photogenic epilepsy
- Phytanic acid storage disease
- PI4KA-related disorder
- Pick disease
- Piebald trait-neurologic defects syndrome
- Piebaldism
- Pierpont syndrome
- Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
- Pierre Robin syndrome-faciodigital anomaly syndrome
- Pierson syndrome
- Pigment dispersion syndrome
- Pigmentary pallidal degeneration
- Pigmentary retinal dystrophy
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
- Pigmented dermatofibrosarcoma protuberans
- Pigmented paravenous retinochoroidal atrophy
- Pigmented purpuric lichenoid dermatitis of Gougerot and Blum
- Pilarowski-Bjornsson syndrome
- Pili annulati
- Pili bifurcati
- Pili gemini
- Pili torti
- Pili torti-deafness syndrome
- Pili torti-developmental delay-neurological abnormalities syndrome
- Pili torti-onychodysplasia syndrome
- Pilocytic astrocytoma
- Pilodental dysplasia-refractive errors syndrome
- Pilomatrixoma
- Pineal parenchymal tumor of intermediate differentiation
- Pineoblastoma
- Pineocytoma
- Pinta disease
- Piriformis syndrome
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Pituitary carcinoma
- Pituitary dependent hypercortisolism
- Pituitary hormone deficiency, combined, 1
- Pituitary hormone deficiency, combined, 2
- Pituitary stalk interruption syndrome
- Pityriasis lichenoides
- Pityriasis rotunda
- Pityriasis rubra pilaris
- PLA2G6-associated neurodegeneration
- Placental site trophoblastic tumor
- Plague
- Plantar fibromatosis
- Plasma cell leukemia
- Plasmablastic lymphoma
- Plasmacytoma
- Plasminogen deficiency, type I
- Platelet-type bleeding disorder 11
- Platelet-type bleeding disorder 12
- Platelet-type bleeding disorder 18
- Platelet-type bleeding disorder 19
- Platelet-type bleeding disorder 8
- Platyspondylic dysplasia, Torrance type
- Pleomorphic xanthoastrocytoma
- Pleuropulmonary blastoma
- PLIN1-related familial partial lipodystrophy
- Plummer-Vinson syndrome
- PMM2-congenital disorder of glycosylation
- PMP22-RAI1 contiguous gene duplication syndrome
- Pneumococcal meningitis
- Pneumoconiosis
- Pneumocystosis
- Pneumonia caused by pseudomonas aeruginosa infection
- PNH
- POEMS syndrome
- Poikiloderma with neutropenia
- Poland anomaly
- Poliomyelitis
- POLR3-related leukodystrophy
- Polyarteritis nodosa
- Polyarticular juvenile rheumatoid arthritis
- Polycystic kidney disease 4
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
- Polycystic ovaries-urethral sphincter dysfunction syndrome
- Polydactyly of a biphalangeal thumb
- Polydactyly of a triphalangeal thumb
- Polydactyly of an index finger
- Polydactyly-myopia syndrome
- Polyembryoma
- Polyendocrine-polyneuropathy syndrome
- Polyglandular autoimmune syndrome, type 1
- Polyglandular autoimmune syndrome, type 2
- Polyglucosan body myopathy type 1
- Polyglucosan body myopathy type 2
- Polyhydramnios, megalencephaly, and symptomatic epilepsy
- Polymicrogyria
- Polymicrogyria with optic nerve hypoplasia
- Polymyalgia rheumatica
- Polymyositis
- Polyneuropathy-hand defect syndrome
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
- Polyostotic fibrous dysplasia of bone
- Polysyndactyly 4
- Polysyndactyly-cardiac malformation syndrome
- Polyvalvular heart disease syndrome
- Pontiac fever
- Pontine tegmental cap dysplasia
- Pontocerebellar hypoplasia type 10
- Pontocerebellar hypoplasia type 1B
- Pontocerebellar hypoplasia type 2
- Pontocerebellar hypoplasia type 3
- Pontocerebellar hypoplasia type 4
- Pontocerebellar hypoplasia type 5
- Pontocerebellar hypoplasia type 6
- Pontocerebellar hypoplasia type 7
- Pontocerebellar hypoplasia type 8
- Pontocerebellar hypoplasia type 9
- Pontoneocerebellar hypoplasia
- Popliteal pterygium syndrome
- Porencephaly
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome
- Porencephaly-microcephaly-bilateral congenital cataract syndrome
- Porokeratosis 3, disseminated superficial actinic type
- Porokeratosis 4, disseminated superficial actinic type
- Porokeratosis of Mantoux
- Porokeratosis of Mibelli
- Porphobilinogen synthase deficiency
- Porphyria cutanea tarda
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- Port-wine stain with oculocutaneous melanosis
- Post poliomyelitis syndrome
- Post-transplant lymphoproliferative disease
- Postaxial polydactyly type A
- Postaxial polydactyly type B
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Postaxial tetramelic oligodactyly
- Posterior amorphous corneal dystrophy
- Posterior column ataxia-retinitis pigmentosa syndrome
- Posterior cortical atrophy
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Posterior hypospadias
- Posterior meningocele
- Posterior polymorphous corneal dystrophy
- Postorgasmic illness syndrome
- Postpartum amenorrhea-galactorrhea syndrome
- Postural orthostatic tachycardia syndrome
- Potassium-aggravated myotonia
- Potocki-Shaffer syndrome
- PPARG-related familial partial lipodystrophy
- Prader-Willi syndrome
- Prata-Liberal-Goncalves syndrome
- Pre-descemet corneal dystrophy
- Preaxial polydactyly-colobomata-intellectual disability syndrome
- Preeclampsia
- Prekallikrein deficiency
- Premature aging syndrome, Okamoto type
- Premature ovarian failure 1
- Prenatal-onset spinal muscular atrophy with congenital bone fractures
- Pretibial dystrophic epidermolysis bullosa
- Prieto syndrome
- Primary adrenocortical insufficiency
- Primary amebic meningoencephalitis
- Primary basilar invagination
- Primary biliary cholangitis
- Primary CD59 deficiency
- Primary central nervous system lymphoma
- Primary central nervous system vasculitis
- Primary ciliary dyskinesia
- Primary condylar hyperplasia
- Primary cutaneous amyloidosis
- Primary cutaneous follicle center lymphoma
- Primary cutaneous T-cell lymphoma
- Primary dilated cardiomyopathy
- Primary effusion lymphoma
- Primary erythromelalgia
- Primary failure of tooth eruption
- Primary familial dilated cardiomyopathy
- Primary familial polycythemia due to EPO receptor mutation
- Primary Fanconi syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Primary hyperoxaluria
- Primary hyperoxaluria type 3
- Primary hyperoxaluria, type I
- Primary hyperoxaluria, type II
- Primary hypomagnesemia
- Primary immunodeficiency syndrome due to p14 deficiency
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Primary interstitial lung disease specific to childhood
- Primary intestinal lymphangiectasia
- Primary intraosseous venous malformation
- Primary lateral sclerosis
- Primary melanoma of the central nervous system
- Primary membranoproliferative glomerulonephritis
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- Primary myelofibrosis
- Primary non-essential cutis verticis gyrata
- Primary orthostatic tremor
- Primary peritoneal carcinoma
- Primary pigmented nodular adrenocortical disease
- Primary progressive aphasia
- Primary progressive non fluent aphasia
- Primary pulmonary hypoplasia
- Primary release disorder of platelets
- Primary sclerosing cholangitis
- Primary syringomyelia
- Primary tethered cord syndrome
- Primrose syndrome
- Prinzmetal angina
- Prion disease
- PRKAR1B-related neurodegenerative dementia with intermediate filaments
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Progeroid features-hepatocellular carcinoma predisposition syndrome
- Progeroid short stature with pigmented nevi
- Progressive bifocal chorioretinal atrophy
- Progressive bulbar palsy
- Progressive cavitating leukoencephalopathy
- Progressive deafness with stapes fixation
- Progressive demyelinating neuropathy with bilateral striatal necrosis
- Progressive encephalomyelitis with rigidity and myoclonus
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- Progressive familial heart block
- Progressive familial heart block type IB
- Progressive familial heart block type II
- Progressive familial heart block, type 1A
- Progressive familial intrahepatic cholestasis
- Progressive familial intrahepatic cholestasis type 1
- Progressive familial intrahepatic cholestasis type 2
- Progressive familial intrahepatic cholestasis type 3
- Progressive hereditary glomerulonephritis without deafness
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Progressive multifocal leukoencephalopathy
- Progressive myoclonic epilepsy
- Progressive myoclonic epilepsy type 3
- Progressive myoclonic epilepsy type 6
- Progressive myoclonic epilepsy type 7
- Progressive myoclonic epilepsy type 8
- Progressive myoclonic epilepsy type 9
- Progressive myoclonic epilepsy with dystonia
- Progressive myositis ossificans
- Progressive non-infectious anterior vertebral fusion
- Progressive osseous heteroplasia
- Progressive pseudorheumatoid dysplasia
- Progressive retinal dystrophy due to retinol transport defect
- Progressive rubella panencephalitis
- Progressive scapulohumeroperoneal distal myopathy
- Progressive sclerosing poliodystrophy
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Progressive supranuclear palsy
- Progressive transformation of germinal centers
- Prolactin-producing pituitary gland adenoma
- Prolidase deficiency
- Proliferating trichilemmal cyst
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Properdin deficiency, X-linked
- Propionic acidemia
- Prostate phyllodes tumor
- Proteasome-associated autoinflammatory syndrome 1
- Proteosome-associated autoinflammatory syndrome
- Proteus syndrome
- Proteus-like syndrome
- Prothrombin deficiency
- Proximal 16p11.2 microdeletion syndrome
- Proximal chromosome 18q deletion syndrome
- Proximal myopathy with extrapyramidal signs
- Proximal myopathy with focal depletion of mitochondria
- Proximal renal tubular acidosis
- Proximal spinal muscular atrophy
- Proximal symphalangism
- PrP systemic amyloidosis
- Prune belly syndrome
- Pruritic urticarial papules and plaques of pregnancy
- PSAT deficiency
- Pseudo von Willebrand disease
- Pseudo-Hurler polydystrophy
- Pseudo-TORCH syndrome
- Pseudo-TORCH syndrome 2
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Pseudoaminopterin syndrome
- Pseudodiastrophic dysplasia
- Pseudohyperaldosteronism type 2
- Pseudohypoaldosteronism type 1
- Pseudohypoaldosteronism, type 2
- Pseudohypoaldosteronism, type IB1, autosomal recessive
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pseudohypoparathyroidism type I A
- Pseudohypoparathyroidism type II
- Pseudoleprechaunism syndrome, Patterson type
- Pseudomyxoma peritonei
- Pseudopelade of Brocq
- Pseudoprogeria syndrome
- Pseudopseudohypoparathyroidism
- Pseudotyphus of California
- Pseudounicornuate uterus
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- Pseudoxanthoma elasticum, forme fruste
- Psoriasis-related juvenile idiopathic arthritis
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
- PTEN hamartoma tumor syndrome
- Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Pterygium colli-intellectual disability-digital anomalies syndrome
- Ptosis-strabismus-ectopic pupils syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ptosis-vocal cord paralysis syndrome
- Pudendal neuralgia
- Pulmonary agenesis
- PULMONARY ALVEOLAR MICROLITHIASIS
- Pulmonary arterial hypertension
- Pulmonary artery coming from the aorta
- Pulmonary atresia with intact ventricular septum
- Pulmonary atresia with ventricular septal defect
- Pulmonary branch stenosis
- Pulmonary fibrosis
- Pulmonary non-tuberculous mycobacterial infection
- Pulmonary sarcoidosis
- Pulmonary valve agenesis
- Pulmonary venoocclusive disease
- Pulmonic stenosis
- Punctate acrokeratoderma freckle-like pigmentation
- Punctate inner choroidopathy
- Punctate palmoplantar keratoderma type 1
- Punctate palmoplantar keratoderma type 2
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- Pure autonomic failure
- Pure gonadal dysgenesis 46,XY
- Pure hair and nail ectodermal dysplasia
- Pure mitochondrial myopathy
- Pure red-cell aplasia
- Purine-nucleoside phosphorylase deficiency
- Pyknoachondrogenesis
- Pyknodysostosis
- Pyle metaphyseal dysplasia
- Pyoderma gangrenosum
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Pyogenic bacterial infections due to MyD88 deficiency
- Pyomyositis
- Pyridoxal phosphate-responsive seizures
- Pyridoxine-dependent epilepsy
- Pyropoikilocytosis, hereditary
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E3 deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate kinase deficiency of red cells
- Pythiosis
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