Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [P]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Platelet defects and oculocutaneous albinism - See Hermansky Pudlak syndrome 2
• Platelet factor X receptor deficiency - See Scott syndrome
• Platelet fibrinogen receptor, deficiency of - See Glanzmann thrombasthenia
• Platelet glycoprotein 1b, deficiency of - See Giant platelet syndrome
• Platelet glycoprotein 2B 3A deficiency - See Glanzmann thrombasthenia
• Platelet granule deficiency disorder - See White platelet syndrome
• Platelet storage pool deficiency
• Platelet storage pool diseases - See Platelet storage pool deficiency
• Platelet-type bleeding disorder-11 - See Glycoprotein VI deficiency
• Platyspondylic lethal skeletal dysplasia Torrance type
• Platyspondyly with amelogenesis imperfecta - See Verloes Bourguignon syndrome
• PLCA - See Primary cutaneous amyloidosis
• Pleiotropic, autosomal dominant disorder affecting connective tissue - See Storm syndrome
• Pleoconial myopathy with salt craving
• Pleomorphic xanthoastrocytoma
• Pleonosteosis Leri type - See Leri pleonosteosis
• Pleuroparenchymal fibroelastosis
• Pleuropulmonary blastoma
• PLEVA - See Pityriasis lichenoides et varioliformis acuta
• Plexosarcoma
• PLIN1-related familial partial lipodystrophy - See Familial partial lipodystrophy
• PLIN1-related FPLD - See Familial partial lipodystrophy
• PLOSL - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Plott syndrome - See Vocal cord dysfunction familial
• PLS juvenile - See Juvenile primary lateral sclerosis
• PLSD San Diego type - See Skeletal dysplasia, San Diego type
• PLSDT - See Platyspondylic lethal skeletal dysplasia Torrance type
• Plummer Vinson syndrome
• Plummer-Vinson syndrome - See Plummer Vinson syndrome
• Plurimalformative syndrome - See Agnathia-microstomia-synotia
• PMC - See Paramyotonia congenita
• PMCD - See Multicentric Castleman Disease
• PMD - See Pelizaeus-Merzbacher disease
• PMDS - See Persistent Mullerian duct syndrome
• PME type 6 - See GOSR2-related progressive myoclonus ataxia
• PMGX - See Bilateral perisylvian polymicrogyria
• PML - See Progressive multifocal leukoencephalopathy
• PMLD - See Pelizaeus-Merzbacher-like disease
• PMM2-CDG - See PMM2-CDG (CDG-Ia)
• PMM2-CDG (CDG-Ia)
• PMP - See Pseudomyxoma peritonei
• PMP syndrome - See HaNDL syndrome
• PMS - See Polydactyly myopia syndrome
• PMSE Syndrome - See Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• PMV - See Mitral valve prolapse, familial, X-linked
• PND - See Paraneoplastic Neurologic Disorders
• PNDC - See Alpers syndrome
• PNDM - See Permanent neonatal diabetes mellitus
• PNES - See Dissociative seizures
• PNET - See Pancreatic neuroendocrine tumor
• Pneumoconiosis - See Coal worker's pneumoconiosis
• Pneumocystis carinii pneumonia (former) - See Pneumocystis jirovecii pneumonia
• Pneumocystis jirovecii pneumonia
• Pneumocystis pneumonia - See Pneumocystis jirovecii pneumonia
• Pneumocystosis
• Pneumonia caused by Pseudomonas aeruginosa infection
• Pneumonia lipid - See Exogenous lipoid pneumonia
• Pneumonia, eosinophilic
• PNH - See Paroxysmal nocturnal hemoglobinuria
• 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
• POADS syndrome - See Miller syndrome
• Podder-Tolmie syndrome
• POEMS syndrome
• 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 of Kindler - See Kindler syndrome
• Poikiloderma of Rothmund-Thomson - See Rothmund-Thomson syndrome
• Poikiloderma with neutropenia
• Poikiloderma with neutropenia Clericuzio type - See Poikiloderma with neutropenia
• Poikiloderma, Alopecia, Retrognathism, and Cleft palate - See PARC syndrome
• Poikiloderma, congenital, with bullae, weary type - See Kindler syndrome
• Poikiloderma, hereditary acrokeratotic - See Kindler syndrome
• Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• POIKTMP - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• POIKTMP syndrome - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Pointer syndrome
• POIS - See Postorgasmic illness syndrome
• Pol III disorder - See POLR3-Related Leukodystrophy
• Pol III-related hypomyelinating leukodystrophies - See POLR3-Related Leukodystrophy
• Pol III-related leukodystrophy - See POLR3-Related Leukodystrophy
• Poland anomaly - See Poland syndrome
• Poland sequence - See Poland syndrome
• Poland syndactyly - See Poland syndrome
• Poland syndrome
• Poland's syndrome - See Poland syndrome
• POLD - See Hereditary diffuse leukoencephalopathy with spheroids
• Polio - See Poliomyelitis
• Polio late effects - See Post Polio syndrome
• Poliodystrophia cerebri progressiva - See Alpers syndrome
• Poliomyelitis
• POLIP - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• POLR3-Related Leukodystrophy
• Polyarteritis - See Polyarteritis nodosa
• Polyarteritis nodosa
• Polyarteritis nodosa, childhood-onset - See Adenosine Deaminase 2 deficiency
• Polyarticular juvenile rheumatoid arthritis - See Polyarticular onset juvenile idiopathic arthritis
• Polyarticular onset juvenile idiopathic arthritis
• Polychondropathia - See Relapsing polychondritis
• Polycystic bone disease
• Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia - See Sener syndrome
• Polycystic kidney disease - not a rare disease
• Polycystic kidney disease, adult type - See Autosomal dominant polycystic kidney disease - not a rare disease
• Polycystic kidney disease, infantile type - See Autosomal recessive polycystic kidney disease
• Polycystic kidneys - See Polycystic kidney disease - not a rare disease
• Polycystic kidneys, severe infantile with tuberous sclerosis
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polycystic liver disease
• Polycystic ovarian syndrome - not a rare disease
• Polycystic ovaries urethral sphincter dysfunction - See Fowler's syndrome
• Polycythemia rubra vera - See Polycythemia vera
• Polycythemia vera
• Polycythemia, primary familial and congenital - See Primary familial and congenital polycythemia
• Polydactylia - See Polydactyly
• Polydactylism - See Polydactyly
• Polydactyly
• Polydactyly - cleft lip/palate - psychomotor retardation - See Orofaciodigital syndrome 6
• Polydactyly alopecia seborrheic dermatitis - See Garret Tripp syndrome
• Polydactyly cleft lip palate psychomotor retardation - See Orofaciodigital syndrome 6
• Polydactyly myopia syndrome
• Polydactyly of a biphalangeal thumb - See Preaxial polydactyly type 1
• Polydactyly of a triphalangeal thumb - See Preaxial polydactyly type 2
• Polydactyly of an index finger - See Preaxial polydactyly type 3
• Polydactyly postaxial dental and vertebral
• Polydactyly postaxial with median cleft of upper lip - See Orofaciodigital syndrome 5
• Polydactyly preaxial 1 - See Preaxial polydactyly type 1
• Polydactyly preaxial 4 - See Preaxial polydactyly type 4
• Polydactyly syndrome middle ray duplication
• Polydactyly with absent tibia - See Absence of tibia with polydactyly
• Polydactyly with neonatal chondrodystrophy type 1 - See Short rib-polydactyly syndrome type 1
• Polydactyly with neonatal chondrodystrophy type 2 - See Short rib-polydactyly syndrome, Majewski type
• Polydactyly with neonatal chondrodystrophy type III - See Short rib-polydactyly syndrome type 3
• Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence - See Say-Field-Coldwell syndrome
• Polydactyly, sex reversal, renal hypoplasia, and unilobular lung - See Smith-Lemli-Opitz syndrome
• Polydactyly-cleft lip/palate-psychomotor retardation syndrome - See Orofaciodigital syndrome 6
• Polyembryoma
• Polyendocrinopathy, immune dysfunction and diarrhea x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Polyglandular autoimmune syndrome type 1 - See Autoimmune polyglandular syndrome type 1
• Polyglandular autoimmune syndrome type 3 - See Autoimmune polyglandular syndrome type 3
• Polyglandular autoimmune syndrome, type 2 - See Autoimmune polyglandular syndrome type 2
• Polyglandular deficiency syndrome type 2 - See Autoimmune polyglandular syndrome type 2
• Polyglucosan body disease, adult form - See Adult polyglucosan body disease
• Polyglucosan body neuropathy, adult form - See Adult polyglucosan body disease
• Polygonal cell hepatocellular carcinoma with fibrous stroma - See Fibrolamellar carcinoma
• Polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures - See Fetal akinesia syndrome X-linked
• Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• Polymicrogyria - not a rare disease
• Polymicrogyria, bilateral perisylvian - See Bilateral perisylvian polymicrogyria
• Polymorphic catecholergic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Polymorphic eruption of pregnancy - See Pruritic urticarial papules plaques of pregnancy
• Polymorphic reticulosis
• Polymorphic vitelline macular degeneration - See Best vitelliform macular dystrophy
• Polymorphous low-grade adenocarcinoma
• Polymyositis
• Polynesian bronchiectasis - See Primary ciliary dyskinesia
• Polyneuropathy - intellectual deficit - acromicria - premature menopause - See Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Polyneuropathy hepatosplenomegaly hyperpigmentation - See Tang Hsi Ryu syndrome
• Polyneuropathy organomegaly - See POEMS syndrome
• Polyneuropathy, cataract, deafness syndrome - See Cataract ataxia deafness
• Polyneuropathy, familial recurrent - See Hereditary neuropathy with liability to pressure palsies
• Polyneuropathy, hand defect - See Hamanishi Ueba Tsuji syndrome
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome - See POEMS syndrome
• Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum - See Andermann syndrome
• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Polyomavirus allograft nephropathy
• Polyomavirus nephropathy - See BK-virus nephropathy
• Polyomavirus-related transplant nephropathy - See Polyomavirus allograft nephropathy
• Polyosteolysis/hyperostosis syndrome
• Polyostotic fibrous dysplasia - See McCune-Albright syndrome
• Polyostotic osteolytic dysplasia, hereditary expansile
• Polyposis coli and multiple hard and soft tissue tumors - See Gardner syndrome
• Polyposis familial of entire gastrointestinal tract - See Juvenile polyposis syndrome
• Polyposis juvenile intestinal - See Juvenile polyposis syndrome
• Polyposis skin pigmentation alopecia fingernail changes - See Cronkhite-Canada disease
• Polyposis, adenomatous intestinal - See Familial adenomatous polyposis
• Polyposis, hamartomatous intestinal - See Peutz-Jeghers syndrome
• Polyps-and-spots syndrome - See Peutz-Jeghers syndrome
• Polysyndactyly - See Preaxial polydactyly type 4
• Polysyndactyly cardiac malformation
• Polysyndactyly overgrowth syndrome - See Barnicoat Baraitser syndrome
• Polysyndactyly type Haas - See Syndactyly type 4
• Polysyndactyly uncomplicated - See Preaxial polydactyly type 4
• Polysyndactyly with peculiar skull shape - See Greig cephalopolysyndactyly syndrome
• Polysyndactyly, Haas type - See Syndactyly type 4
• Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate - See Acrofrontofacionasal dysostosis syndrome
• POMA syndrome - See Opsoclonus-myoclonus syndrome
• POMC deficiency - See Proopiomelanocortin deficiency
• Pompe disease - See Glycogen storage disease type 2
• Poncet Spiegler cylindroma - See Poncet-Spiegler's cylindroma
• Poncet-Spiegler's cylindroma
• Pontine hemorrhage - not a rare disease
• Pontine tegmental cap dysplasia
• Pontobulbar palsy and neurosensory deafness - See Riboflavin transporter deficiency
• Pontobulbar palsy with deafness - See Riboflavin transporter deficiency
• Pontocerebellar hypoplasia
• Pontocerebellar hypoplasia type 1
• Pontocerebellar hypoplasia type 2
• Pontocerebellar hypoplasia type 3
• Pontocerebellar hypoplasia type 4
• Pontocerebellar hypoplasia type 5
• Pontocerebellar hypoplasia type 6
• Pontocerebellar hypoplasia with anterior horn cell disease - See Pontocerebellar hypoplasia type 1
• Pontocerebellar hypoplasia with infantile spinal muscular atrophy - See Pontocerebellar hypoplasia type 1
• Poorly differentiated neuroendocrine carcinoma of the bladder - See Small cell carcinoma of the bladder
• Popliteal pterygium syndrome
• Popliteal pterygium syndrome lethal type - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Popliteal pterygium syndrome, Bartsocas-Papas type
• POR deficiency - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Porak and Durante disease - See Osteogenesis imperfecta
• PORC - See Chester porphyria
• Porcelain nails - See Leukonychia totalis
• PORD - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Porencephaly
• Porencephaly cerebellar hypoplasia internal malformations
• Porocarcinoma - See Eccrine porocarcinoma
• Porokeratosis of Mibelli
• Porokeratosis punctata palmaris et plantaris - See Punctate porokeratosis
• Porokeratosis, disseminated superficial actinic 1
• Porokeratosis, disseminated superficial actinic 2
• Porphobilinogen deaminase deficiency - See Acute intermittent porphyria
• Porphyria
• Porphyria cutanea tarda
• Porphyria hepatica coproporphyria - See Hereditary coproporphyria
• Porphyria hepatica II - See Hereditary coproporphyria
• Porphyria variegate - See Variegate porphyria
• Porphyria, Chester type - See Chester porphyria
• Porphyria, congenital erythropoietic - See Congenital erythropoietic porphyria
• Porphyria, hepatic - See Porphyria cutanea tarda
• Porphyria, South African type - See Variegate porphyria
• Porphyria, Swedish type - See Acute intermittent porphyria
• Portal hypertension - not a rare disease
• Portosystemic venous shunt, congenital - See Patent ductus venosus
• Port-wine stain familial multiple - See Nevi flammei, familial multiple
• Positive rheumatoid factor polyarthritis
• Posner-Schlossman syndrome
• Post Finasteride syndrome - See Adverse events of 5-alpha-reductase inhibitors
• Post orgasmic sick syndrome - See Postorgasmic illness syndrome
• Post Polio syndrome
• Postanginal sepsis secondary to orophyngeal infection - See Lemierre syndrome
• Postaxial acrofacial dysostosis (POADS) syndrome - See Miller syndrome
• Postaxial Polydactyly with progressive myopia - See Polydactyly myopia syndrome
• Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - See Culler-Jones syndrome
• Postaxial polydactyly-intellectual disability syndrome - See Oliver syndrome
• Postaxial polydactyly-progressive myopia syndrome - See Polydactyly myopia syndrome
• Post-encephalitic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
• Posterior column ataxia
• Posterior column ataxia with retinitis pigmentosa
• Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities - See PHACE syndrome
• Posterior inferior cerebellar artery syndrome - See Wallenberg syndrome
• Posterior laryngeal cleft (PLC) - See Laryngeal cleft
• Posterior polar cataract, 1 - See Cataract, posterior polar, 1
• Posterior polar cataract, 4 - See Cataract, posterior polar, 4
• Posterior thalamic syndrome (former) - See Central pain syndrome
• Posterior Tibial Nerve Neuralgia - See Tarsal tunnel syndrome
• Posterior urethral valves
• Posterior uveitis
• Post-fundoplication syndrome - See Gas bloat syndrome
• Postinfectious acute necrotizing hemorrhagic encephalopathy - See Infection-induced acute encephalopathy 3
• Post-infectious arthritis - See Reactive arthritis
• Postinfectious myocarditi - See Infectious myocarditis
• Post-infectious myocarditis - See Infectious myocarditis
• Post-infectious reactive arthropathy - See Reactive arthritis
• Post-infective polyneuritis - See Guillain-Barre syndrome
• Post-irradiation angiosarcoma of the breast - See Radiation induced angiosarcoma of the breast
• Postmastectomy extremity angiosarcoma - See Stewart Treves syndrome
• Postnatal progressive microcephaly, seizures, and brain atrophy
• Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation - See Zerres Rietschel Majewski syndrome
• Postorgasmic illness syndrome
• Post-orgasmic illness syndrome - See Postorgasmic illness syndrome
• Postpartum cardiomyopathy - See Peripartum cardiomyopathy
• Postpartum hypopituitarism - See Sheehan syndrome
• Postpartum panhypopituitarism - See Sheehan syndrome
• Postpartum panhypopituitary syndrome - See Sheehan syndrome
• Postpartum pituitary necrosis - See Sheehan syndrome
• Post-polio muscular atrophy - See Post Polio syndrome
• Post-polio sequelae - See Post Polio syndrome
• Postpolio syndrome - See Post Polio syndrome
• Post-poliomyelitic syndrome - See Post Polio syndrome
• Postpoliomyelitis syndrome - See Post Polio syndrome
• Post-transplant lymphoproliferative disease
• Post-transplant lymphoproliferative disorder - See Post-transplant lymphoproliferative disease
• Post-traumatic epilepsy
• Post-traumatic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
• Postural orthostatic tachycardia syndrome - not a rare disease
• Postural orthostatic tachycardia syndrome due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• Postural tachycardia syndrome - See Postural orthostatic tachycardia syndrome - not a rare disease
• Postural tachycardia syndrome due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• POT - See Primary orthostatic tremor
• Potassium aggravated myotonia
• Potassium and magnesium depletion - See Gitelman syndrome
• Potassium sodium disorder of erythrocyte - See Overhydrated hereditary stomatocytosis
• Potassium wasting - See Bartter syndrome
• Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features - See Andersen-Tawil syndrome
• Potato nose
• Potocki-Lupski syndrome
• Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) - See Potocki-Lupski syndrome
• Potocki-Shaffer syndrome
• POTS - See Postural orthostatic tachycardia syndrome - not a rare disease
• POTS due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• Potter sequence
• Potter syndrome - See Potter sequence
• Powell-Venencie-Gordon syndrome - See Keratoderma palmoplantar spastic paralysis
• PPA - See Primary progressive aphasia
• PPAC - See Progressive pseudorheumatoid dysplasia
• PPARG-related familial partial lipodystrophy - See Familial partial lipodystrophy associated with PPARG mutations
• PPARG-related FPLD - See Familial partial lipodystrophy associated with PPARG mutations
• PPB - See Pleuropulmonary blastoma
• PPCA deficiency - See Galactosialidosis
• PPD - See Progressive pseudorheumatoid dysplasia
• PPD1 - See Preaxial polydactyly type 1
• PPD2 - See Preaxial polydactyly type 2
• PPD3 - See Preaxial polydactyly type 3
• PPD4 - See Preaxial polydactyly type 4
• PPH - See Pulmonary arterial hypertension
• PPHP - See Pseudopseudohypoparathyroidism
• PPK diffusa circumscripta - See Unna-Thost palmoplantar keratoderma
• PPKB - See Diffuse palmoplantar keratoderma, Bothnian type
• PPK-CA, Stevanovic type - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• PPKP2 - See Punctate palmoplantar keratoderma type 2
• PPKS1 - See Keratosis palmoplantaris striata 1
• PPKS3 - See Keratosis palmoplantaris striata 3
• PPM-X syndrome
• PPNAD - See Primary pigmented nodular adrenocortical disease
• PPOX deficiency - See Variegate porphyria
• PPP - See Pustulosis palmaris et plantaris
• PPPP - See Punctate palmoplantar keratoderma type 2
• PPPP - See Punctate porokeratosis
• PPS - See Popliteal pterygium syndrome
• PPSH - See 5-alpha reductase deficiency
• PPT syndrome - See Pfeiffer Palm Teller syndrome
• PPTID - See Pineal parenchymal tumors of intermediate differentiation
• PPV - See Phacomatosis pigmentovascularis
• PR - See Polymorphic reticulosis
• Prader-Labhart-Willi syndrome - See Prader-Willi syndrome
• Prader-Willi habitus, osteopenia, and camptodactyly
• Prader-Willi syndrome
• Prader-Willi syndrome due to a point mutation - See Schaaf-Yang syndrome
• Prader-Willi syndrome due to point mutation - See Schaaf-Yang syndrome
• Prader-Willi-like syndrome - See Schaaf-Yang syndrome
• Prata-Liberal-Goncalves syndrome - See Acrodysplasia scoliosis
• PRCA - See Pure red cell aplasia
• Preauricular sinus - not a rare disease
• Preaxial acrofacial dysostosis - See Nager acrofacial dysostosis
• Preaxial brachydactyly syndrome, Temtamy type - See Temtamy preaxial brachydactyly syndrome
• Preaxial deficiency, postaxial polydactyly and hypospadias
• Preaxial polydactyly 1 - See Preaxial polydactyly type 1
• Preaxial polydactyly 4 - See Preaxial polydactyly type 4
• Preaxial polydactyly of fingers - See Polydactyly
• Preaxial polydactyly of hand - See Polydactyly
• Preaxial polydactyly type 1 - See Preaxial polydactyly type 1
• Preaxial polydactyly type 1
• Preaxial polydactyly type 2
• Preaxial polydactyly type 3
• Preaxial polydactyly type 4
• Preaxial polydactyly type 4 - See Preaxial polydactyly type 4
• Precalicial canalicular ectasia - See Medullary sponge kidney
• Precalyceal canalicular ectasia - See Medullary sponge kidney
• Precocious puberty
• Precocious puberty with spastic paraplegia - See Spastic paraplegia with precocious puberty
• Precocious puberty, gonadotropin-dependent
• Precocious puberty, male limited - See Testotoxicosis
• Preexcitation syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Pregnancy related cholestasis - See Intrahepatic cholestasis of pregnancy
• Pregnancy-induced gigantomastia (subtype) - See Gigantomastia
• Pregnancy-related cholestasis - See Intrahepatic cholestasis of pregnancy
• Prekallikrein deficiency, congenital
• Premature aging Okamoto type
• Premature aging syndrome Penttinen type - See Penttinen-Aula syndrome
• Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay - See Premature aging Okamoto type
• Premature Aging Syndrome, Penttinen type - See Progeroid syndrome, Penttinen type
• Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder - See Feigenbaum Bergeron Richardson syndrome
• Premature ovarian failure 1 - See FMR1-related primary ovarian insufficiency
• Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms - See Microcephalic primordial dwarfism, Montreal type
• Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly - See Penttinen-Aula syndrome
• Premolar aplasia, hyperhidrosis, and canities prematura - See Book syndrome
• Prenatal cocaine exposure - See Cocaine antenatal exposure
• Prepenile scrotum - See Penoscrotal transposition
• Presenile dementia with bone cysts - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Presenile dementia with spastic ataxia - See Dementia familial British
• Presenile dementia, Kraepelin type
• Presenile tremor syndrome - See Essential tremor - not a rare disease
• Presentey anomaly - See Eosinophil peroxidase deficiency
• Pressure-induced localized lipoatrophy (subtype) - See Localized lipodystrophy
• Pretibial DEB - See Pretibial epidermolysis bullosa
• Pretibial dystrophic epidermolysis bullosa - See Pretibial epidermolysis bullosa
• Pretibial epidermolysis bullosa
• Pretzel syndrome - See Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• Priapism
• Priapism, familial idiopathic - See Priapism
• Prieto syndrome - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• Prieto-Badia-Mulas syndrome - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• Prieur Griscelli syndrome - See Neonatal Onset Multisystem Inflammatory disease
• Primary acalvaria - See Acalvaria
• Primary achalasia - See Idiopathic achalasia
• Primary acquired cholesteatoma (type) - See Cholesteatoma
• Primary acquired sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Primary agammaglobulinemia
• Primary AL amyloidosis - See AL amyloidosis
• Primary aldosteronism - See Primary hyperaldosteronism - not a rare disease
• Primary alveolar hypoventilation - See Congenital central hypoventilation syndrome
• Primary amebic meningoencephalitis
• Primary amenorrhoea with coloboma and total agenesis of the corpus callosum - See Calloso-genital dysplasia
• Primary amoebic meningoencephalitis - See Primary amebic meningoencephalitis
• Primary amyloidosis (Formerly) - See AL amyloidosis
• Primary angiitis of the central nervous system
• Primary antibody deficiency - See Common variable immunodeficiency
• Primary avascular necrosis of the femoral head - See Familial avascular necrosis of the femoral head
• Primary basilar impression
• Primary biliary cholangitis
• Primary Biliary Cirrhosis - See Primary biliary cholangitis
• Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia - See Reynolds syndrome
• Primary blepharospasm - See Benign essential blepharospasm
• Primary bone cancer
• Primary brain lymphoma - See Primary central nervous system lymphoma
• Primary cancer of liver - See Primary liver cancer
• Primary cardiac tumors, childhood - See Heart tumor
• Primary carnitine deficiency
• Primary central nervous system lymphoma
• Primary central nervous system vasculitis - See Primary angiitis of the central nervous system
• Primary central sleep apnea - See Idiopathic alveolar hypoventilation syndrome
• Primary ciliary dyskinesia
• Primary ciliary dyskinesia and situs inversus - See Kartagener syndrome
• Primary ciliary dyskinesia, Kartagener type - See Kartagener syndrome
• Primary CNS lymphoma - See Primary central nervous system lymphoma
• Primary CNS melanoma - See Primary melanoma of the central nervous system
• Primary CNS vasculitis - See Primary angiitis of the central nervous system
• Primary congenital erythrocytosis - See Primary familial and congenital polycythemia
• Primary congenital glaucoma - See Glaucoma 3 primary infantile B
• Primary congenital glaucoma type 3B - See Glaucoma 3 primary infantile B
• Primary congenital lymphedema - See Milroy disease
• Primary cough headache - See Cough headache
• Primary cutaneous amyloidosis
• Primary cutaneous follicle center lymphoma
• Primary Dentatum Atrophy - See Dyssynergia cerebellaris myoclonica
• Primary effusion lymphoma
• Primary erythermalgia - See Erythromelalgia
• Primary erythromelalgia - See Erythromelalgia
• Primary Exertional Headache - See Exertional headache
• Primary familial and congenital polycythemia
• Primary familial brain calcification - See Primary Familial Brain Calcification
• Primary Familial Brain Calcification
• Primary familial polycythemia - See Primary familial and congenital polycythemia
• Primary Fanconi renotubular syndrome - See Fanconi syndrome
• Primary gastric lymphoma - See Gastric lymphoma
• primary gastrointestinal melanoma - See Digestive System Melanoma
• Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation - See Cantalamessa Baldini Ambrosi syndrome
• Primary growth hormone insensitivity - See Laron syndrome
• Primary growth hormone resistance - See Laron syndrome
• Primary headache associated with sexual activity - See Exertional headache
• Primary hyperaldosteronism - not a rare disease
• Primary hyperoxaluria type 1
• Primary hyperoxaluria type 2
• Primary hyperoxaluria type 3
• Primary hyperparathyroidism
• Primary hypersomnia - See Idiopathic hypersomnia
• Primary hypertrophic osteoarthropathy - See Pachydermoperiostosis
• Primary hypogammaglobulinemia - See Common variable immunodeficiency
• Primary hypomagnesemia with secondary hypocalcemia
• Primary idiopathic cold urticaria - See Cold urticaria
• Primary ILD specific to childhood - See Children's interstitial lung disease
• Primary interstitial lung disease specific to childhood - See Children's interstitial lung disease
• Primary intestinal lymphangiectasia
• Primary intestinal lymphangiectasis - See Primary intestinal lymphangiectasia
• Primary lateral sclerosis
• Primary lateral sclerosis, juvenile - See Juvenile primary lateral sclerosis
• Primary liver cancer
• Primary Liver Carcinoma - See Primary liver cancer
• Primary localized cutaneous amyloidosis - See Primary cutaneous amyloidosis
• Primary lymphoma, CNS - See Primary central nervous system lymphoma
• Primary macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
• Primary Malignant Liver Neoplasm - See Primary liver cancer
• Primary malignant melanoma of the cervix
• Primary malignant melanoma of the cervix uteri - See Primary malignant melanoma of the cervix
• Primary malignant melanoma of the conjunctiva
• Primary malignant melanoma of the uterine cervix - See Primary malignant melanoma of the cervix
• Primary malignant neoplasm of bone - See Primary bone cancer
• Primary melanoma of the central nervous system
• Primary melanoma of the CNS - See Primary melanoma of the central nervous system
• Primary membranoproliferative glomerulonephritis - See Membranoproliferative glomerulonephritis
• Primary meningeal melanoma - See Primary melanoma of the central nervous system
• Primary mucoepidermoid cutaneous carcinoma - See Hidradenocarcinoma
• Primary myelofibrosis - See Myelofibrosis
• Primary non-essential cutis verticis gyrata - See McDowall syndrome
• Primary open angle glaucoma juvenile onset 1
• Primary orbital lymphoma - See Orbital lymphoma
• Primary orthostatic hypotension
• Primary orthostatic tremor
• Primary parkinsonism - See Parkinson disease - not a rare disease
• Primary pigmented nodular adrenocortical disease
• Primary polycythemia - See Polycythemia vera
• Primary polydipsia - See Dipsogenic diabetes insipidus
• Primary progressive aphasia
• Primary progressive aphasia syndrome - See Primary progressive aphasia
• Primary pulmonary hypertension - See Pulmonary arterial hypertension
• Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet - See Lymphedema and cerebral arteriovenous anomaly
• Primary release disorder of platelets
• Primary sclerosing cholangitis
• Primary spontaneous pneumothorax
• Primary systemic AL amyloidosis - See AL amyloidosis
• Primary systemic amyloidosis - See AL amyloidosis
• Primary T-Cell Immunodeficiency Disorders - See T cell immunodeficiency primary
• Primary thrombocythemia - See Essential thrombocythemia
• Primary tubular proximal acidosis
• Primary tumor of the liver - See Primary liver cancer
• Primary visual agnosia - See Agnosia
• Primitive anophthalmia - See Microphthalmia
• Primitive neuroectodermal tumor (PNET) (type) - See Ewing's family of tumors
• Primitive renal tubule syndrome - See Renal tubular dysgenesis
• Primordial dwarfism - See Isolated growth hormone deficiency type 1A
• Primordial microcephalic dwarfism, Crachami type - See Microcephalic osteodysplastic primordial dwarfism type 1
• Primrose syndrome
• Prinzmetal angina - See Prinzmetal's variant angina
• Prinzmetal's variant angina
• PRLoma - See Prolactinoma
• PRL-secreting pituitary adenoma - See Prolactinoma
• Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence - See Teebi Naguib Al Awadi syndrome
• Progeria
• Progeria syndrome, childhood-onset, with osteolysis - See Nestor-guillermo progeria syndrome
• Progeria-like syndrome - See Cockayne syndrome
• Progeroid nanism - See Cockayne syndrome
• Progeroid short stature with pigmented nevi
• Progeroid syndrome congenital Petty type - See Progeroid syndrome Petty type
• Progeroid syndrome neonatal - See Neonatal progeroid syndrome
• Progeroid syndrome of De Barsy - See De Barsy syndrome
• Progeroid syndrome Petty type
• Progeroid syndrome, De Barsy type - See De Barsy syndrome
• Progeroid syndrome, Penttinen type
• Prognathism mandibular
• Progressiva symmetrica erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
• Progressive acromelanosis - See Acromelanosis
• Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance - See Vertebral body fusion overgrowth
• Progressive bifocal chorioretinal atrophy
• Progressive bulbar atrophy - See Progressive bulbar palsy
• Progressive bulbar palsy
• Progressive bulbar palsy with sensorineural deafness - See Riboflavin transporter deficiency
• Progressive cerebral poliodystrophy - See Alpers syndrome
• Progressive cone degeneration - See Retinal cone dystrophy 2
• Progressive cutaneous systemic scleroderma - See Diffuse cutaneous systemic sclerosis
• Progressive cutaneous systemic sclerosis - See Diffuse cutaneous systemic sclerosis
• Progressive deafness with stapes fixation
• Progressive deforming osteogenesis imperfecta - See Osteogenesis imperfecta type III
• Progressive diaphyseal dysplasia - See Camurati-Engelmann disease
• Progressive diaphyseal dysplasia with striations of the bones - See Camurati Engelmann disease, type 2
• Progressive encephalomyelitis with rigidity and myoclonus
• Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy - See PEHO syndrome
• Progressive epilepsy - intellectual disability, Finnish type - See Northern epilepsy
• Progressive epilepsy-intellectual disability syndrome, Finnish type - See Northern epilepsy
• Progressive external ophthalmoplegia - See Chronic progressive external ophthalmoplegia
• Progressive external ophthalmoplegia and scoliosis - See Horizontal gaze palsy with progressive scoliosis
• Progressive external ophthalmoplegia with cerebellar ataxia infantile - See Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive familial heart block - See Familial progressive cardiac conduction defect
• Progressive familial heart block type 1A
• Progressive familial heart block type 1B
• Progressive familial heart block type 2
• Progressive familial intrahepatic cholestasis - See Progressive familial intrahepatic cholestasis 1
• Progressive familial intrahepatic cholestasis 1
• Progressive familial intrahepatic cholestasis 4 - See Progressive familial intrahepatic cholestasis-4
• Progressive familial intrahepatic cholestasis type 2
• Progressive familial intrahepatic cholestasis type 3
• Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase - See Progressive familial intrahepatic cholestasis type 3
• Progressive familial intrahepatic cholestasis-4
• Progressive hemifacial atrophy
• Progressive isolated segmental anhidrosis - See Harlequin syndrome
• Progressive kinking of the hair, acquired
• Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy - See Pontocerebellar hypoplasia type 2
• Progressive multifocal leukoencephalopathy
• Progressive myoclonic epilepsy
• Progressive myoclonic epilepsy 3 - See Epilepsy progressive myoclonic type 3
• Progressive myoclonic epilepsy type 6 - See GOSR2-related progressive myoclonus ataxia
• Progressive myoclonus ataxia - See Dyssynergia cerebellaris myoclonica
• Progressive myoclonus epilepsy baltic myoclonic epilepsy - See Unverricht-Lundborg disease
• Progressive myoclonus epilepsy type 6 - See GOSR2-related progressive myoclonus ataxia
• Progressive myositis ossificans - See Fibrodysplasia ossificans progressiva
• Progressive non-fluent aphasia
• Progressive osseous heteroplasia
• Progressive ossifying myositis - See Fibrodysplasia ossificans progressiva
• Progressive pigmented purpura - See Pigmented purpuric dermatosis
• Progressive pseudorheumatoid arthropathy of childhood - See Progressive pseudorheumatoid dysplasia
• Progressive pseudorheumatoid chondrodysplasia - See Progressive pseudorheumatoid dysplasia
• Progressive pseudorheumatoid dysplasia
• Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss (formerly) - See Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Progressive supranuclear palsy
• Progressive supranuclear palsy atypical
• Progressive symmetric erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
• Progressive systemic sclerosis - See Systemic scleroderma
• Progressive systemic sclerosis sine scleroderma - See Limited systemic sclerosis
• Progressive tapetochoroidal dystrophy - See Choroideremia
• Progressive transformation of germinal centers
• Progressively deforming OI - See Osteogenesis imperfecta type III
• Prolactinoma
• Prolactin-Producing Pituitary Gland Adenoma - See Prolactinoma
• Prolactin-secreting pituitary adenoma - See Prolactinoma
• Prolapsed mitral valve - See Mitral valve prolapse, familial, X-linked
• Prolidase deficiency
• Proliferating pilar cyst - See Proliferating trichilemmal cyst
• Proliferating trichilemmal cyst
• Proliferation of large granular lymphocytes - See T-cell large granular lymphocyte leukemia
• Proliferative verrucous leukoplakia
• Proline hydrogenase deficiency - See Hyperprolinemia
• Proline oxidase deficiency - See Hyperprolinemia
• Prolonged electroretinal response suppression - See Bradyopsia
• Prolonged QT interval in EKG and sudden death - See Jervell Lange-Nielsen syndrome
• Prominent glabella microcephaly hypogenitalism - See Mac Dermot Winter syndrome
• PROMM - See Myotonic dystrophy type 2
• Proopiomelanocortin deficiency
• PROP - See Propionic acidemia
• Properdin deficiency
• Properdin deficiency, type 1 - See Properdin deficiency, X-linked
• Properdin deficiency, X-linked
• Properdin P factor deficiency - See Properdin deficiency, X-linked
• Propionic acidemia
• Propionicacidemia - See Propionic acidemia
• Propionyl-CoA carboxylase deficiency - See Propionic acidemia
• Propriospinal myoclonus
• Proptosis, Robin association, clenched hands, and multiple abnormalities - See Sanderson Fraser syndrome
• PROSAPOSIN DEFICIENCY - See Sphingolipidosis
• Prosopagnosia, congenital - See Developmental prosopagnosia
• Prosopagnosia, developmental - See Developmental prosopagnosia
• Prosopagnosia, hereditary - See Developmental prosopagnosia
• PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• Prostate cancer, familial - See Familial prostate cancer
• Prostate cancer, hereditary - See Familial prostate cancer
• Prostatic malacoplakia associated with prostatic abscess
• Prostatic malacoplakia with prostatic and seminal vesicle abscess - See Prostatic malacoplakia associated with prostatic abscess
• Prostatic stromal proliferation of uncertain malignant potential
• Prosthetic joint infection
• Protective protein/Cathepsin A deficiency - See Galactosialidosis
• Protein C deficiency - not a rare disease
• Protein S deficiency
• Protein surplus myopathy (former name) - See Myofibrillar myopathy
• Protein-losing enteropathy-hepatic fibrosis syndrome - See MPI-CDG (CDG-Ib)
• Proteodermatan sulfate, defective biosynthesis of - See Spondylodysplastic Ehlers-Danlos syndrome
• Proteus like syndrome mental retardation eye defect
• Proteus syndrome
• Proteus-like syndrome
• Prothrombin 20210G>A thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin deficiency
• Prothrombin G20210A thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin-related thrombophilia
• Protoplasmic astrocytoma (histologic variant) - See Diffuse astrocytoma
• Protoporphyria
• Protoporphyrinogen oxidase deficiency - See Variegate porphyria
• Proud Levine Carpenter syndrome - See Proud syndrome
• Proud syndrome
• Proximal 11p deletion syndrome - See Potocki-Shaffer syndrome
• Proximal 18q- - See Proximal chromosome 18q deletion syndrome
• Proximal 18q deletion - See Proximal chromosome 18q deletion syndrome
• Proximal 18q deletion syndrome - See Proximal chromosome 18q deletion syndrome
• Proximal chromosome 18q deletion syndrome
• Proximal femoral focal deficiency (subtype) - See Congenital femoral deficiency
• Proximal myopathy with extrapyramidal signs - See Myopathy with extrapyramidal signs
• Proximal myotonic myopathy - See Myotonic dystrophy type 2
• Proximal spinal muscular atrophy
• Proximal spinal muscular atrophy type 1 - See Spinal muscular atrophy 1
• Proximal spinal muscular atrophy, type 1 - See Spinal muscular atrophy 1
• Proximal symphalangism
• Proximal symphalangism - See Proximal symphalangism
• Proximal tubulopathy, diabetes mellitus and cerebellar ataxia - See Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
• Proximal, smooth fusion of 2-6 cm between the radius and ulna and absent head of the radius - See Congenital radioulnar synostosis
• PRPP synthetase deficiency - See Phosphoribosylpyrophosphate synthetase deficiency
• PRS - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• PRTS - See Partington syndrome
• Prune belly syndrome
• Prurigo nodularis
• Pruritic urticarial papules and plaques of pregnancy, familial (subtype) - See Pruritic urticarial papules plaques of pregnancy
• Pruritic urticarial papules plaques of pregnancy
• PRV - See Polycythemia vera
• PSACH - See Pseudoachondroplasia
• PSAPD - See Sphingolipidosis
• PSAT deficiency - See Phosphoserine aminotransferase deficiency
• PSCOO - See Nestor-guillermo progeria syndrome
• PSE - See Photosensitive epilepsy
• PSEK - See Erythrokeratodermia variabilis et progressiva
• Pseudo Gaucher disease - See Gaucher-like disease
• Pseudo pelade of Brocq - See Pseudopelade of Brocq
• Pseudo Pelger anomaly - See Pseudo Pelger-Huet anomaly
• Pseudo Pelger-Huet anomaly
• Pseudo trisomy 13 syndrome - See Pseudotrisomy 13 syndrome
• Pseudoachondroplasia
• Pseudoachondroplastic dysplasia - See Pseudoachondroplasia
• Pseudoachondroplastic dysplasia 2
• Pseudoachondroplastic spondyloepiphyseal dysplasia - See Pseudoachondroplasia
• Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome - See Pseudoachondroplasia
• Pseudoadrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
• Pseudoainhum
• Pseudoaldosteronism - See Liddle syndrome
• Pseudoaminopterin syndrome
• Pseudo-Angelman syndrome - See 2q23.1 microdeletion syndrome
• Pseudoangiomatous stromal hyperplasia - not a rare disease
• Pseudoangiomatous stromal hyperplasia of the breast - See Pseudoangiomatous stromal hyperplasia - not a rare disease
• Pseudobulbar affect - not a rare disease
• Pseudocholinesterase deficiency
• Pseudocholinesterase E1 - See Pseudocholinesterase deficiency
• Pseudodiastrophic dwarfism - See Pseudodiastrophic dysplasia
• Pseudodiastrophic dysplasia
• Pseudodiplomyelia - See Split spinal cord malformation
• Pseudoglioma - See Norrie disease
• Pseudoglioma with bone fragility - See Osteoporosis-pseudoglioma syndrome
• Pseudoglycogenosis 2 - See Danon disease
• Pseudogout, familial - See Chondrocalcinosis 2
• Pseudohermaphrodism anorectal anomalies
• Pseudohermaphroditism, nephron disorder and Wilms' tumor - See Denys-Drash syndrome
• Pseudo-Hurler polydystrophy - See Mucolipidosis III alpha/beta
• Pseudohyperkalemia Cardiff
• Pseudohypoaldosteronism type 1 autosomal dominant - See Autosomal dominant pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1 autosomal recessive - See Autosomal recessive pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1, dominant - See Autosomal dominant pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1, recessive - See Autosomal recessive pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 2
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B
• Pseudohypoparathyroidism type 1C
• Pseudohypoparathyroidism type 2
• Pseudohypoparathyroidism with Albright hereditary osteodystrophy
• Pseudoinflammatory fundus dystrophy
• Pseudo-iron-deficiency anemia - See Iron-refractory iron deficiency anemia
• Pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis syndrome - See HaNDL syndrome
• Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis - See HaNDL syndrome
• Pseudomonas stutzeri infections
• Pseudo-Morquio syndrome type 2 - See Spondyloepiphyseal dysplasia Maroteaux type
• Pseudomyotonia
• Pseudomyxoma peritonei
• Pseudoneonatal adrenoleukodystrophy
• Pseudo-neonatal adrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
• Pseudoobstruction chronic idiopathic intestinal neuronal type - See Visceral neuropathy familial
• Pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities - See Mungan syndrome
• Pseudoobstruction idiopathic intestinal - See Megaduodenum and/or megacystis
• Pseudopapilledema blepharophimosis hand anomalies
• Pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies - See Pseudopapilledema blepharophimosis hand anomalies
• Pseudopelade of Brocq
• Pseudo-pelade of Brocq - See Pseudopelade of Brocq
• Pseudo-Phlorizin diabetes - See Fanconi Bickel syndrome
• Pseudopolycythaemia
• Pseudopolycythemia - See Pseudopolycythaemia
• Pseudoprogeria syndrome
• Pseudopseudohypoparathyroidism
• Pseudopseudo-Hypoparathyroidism - See Pseudopseudohypoparathyroidism
• Pseudo-Pseudohypoparathyroidism - See Pseudopseudohypoparathyroidism
• Pseudorheumatoid dysplasia progressive, with hypoplastic toes - See Czech dysplasia metatarsal type
• Pseudosciatica - See Piriformis syndrome
• Pseudoseizures - See Dissociative seizures
• Pseudoterranova infection - See Anisakiasis
• Pseudothalidomide syndrome - See Roberts syndrome
• Pseudo-TORCH syndrome - See Congenital intrauterine infection-like syndrome
• Pseudotoxoplasmosis syndrome - See Aicardi-Goutieres syndrome
• Pseudotrisomy 13 syndrome
• Pseudotumor cerebri - See Idiopathic intracranial hypertension
• Pseudo-Turner syndrome
• Pseudo-Ullrich-Turner syndrome - See Noonan syndrome
• Pseudovaginal perineoscrotal hypospadias - See 5-alpha reductase deficiency
• Pseudo-Von Willebrand disease
• Pseudoxanthoma elasticum
• Pseudoxanthoma elasticum, forme fruste
• PSIS - See Pituitary stalk interruption syndrome
• Psittacosis
• Psoriasis - not a rare disease
• Psoriasis 14, pustular - See Generalized pustular psoriasis
• Psoriasis guttate - See Guttate psoriasis
• Psoriasis-related JIA - See Psoriatic juvenile idiopathic arthritis
• Psoriasis-related juvenile idiopathic arthritis - See Psoriatic juvenile idiopathic arthritis
• Psoriatic juvenile idiopathic arthritis
• PSP - See Progressive supranuclear palsy
• PSPUMP - See Prostatic stromal proliferation of uncertain malignant potential
• PSS - See Peeling skin syndrome
• PSS - See Potocki-Shaffer syndrome
• PSVS - See Patent ductus venosus
• Psychogenic nonepileptic seizures - See Dissociative seizures
• Psychogenic purpura - See Gardner-Diamond syndrome
• Psychogenic seizures - See Dissociative seizures
• Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• PTA deficiency - See Factor XI deficiency
• PTC syndrome - See Multiple endocrine neoplasia type 2A
• PTCD - See Pontine tegmental cap dysplasia
• PTEN hamartoma tumor syndrome
• Pterin-4 alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects - See PHAVER syndrome
• Pterygia mental retardation facial dysmorphism - See Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Pterygium antecubital - See Antecubital pterygium
• Pterygium colli mental retardation digital anomalies
• Pterygium colli syndrome - See Multiple pterygium syndrome Escobar type
• Pterygium of the conjunctiva and cornea
• Pterygium popliteal lethal type - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Pterygium syndrome multiple lethal type - See Multiple pterygium syndrome lethal type
• Pterygium syndrome multiple X-linked - See Multiple pterygium syndrome X-linked
• Pterygium universale - See Multiple pterygium syndrome Escobar type
• PTGC - See Progressive transformation of germinal centers
• PTGS DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• PTLAH - See Absent patella
• PTLD - See Post-transplant lymphoproliferative disease
• PTLS - See Potocki-Lupski syndrome
• PTND - See Bjornstad syndrome
• Ptosis strabismus ectopic pupils
• Ptosis vocal cord paralysis - See Tucker syndrome
• Ptosis, ectropion, thin skin, beaked nose - See Jones Hersh Yusk syndrome
• Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism - See Jorgenson Lenz syndrome
• PTR - See Pilomatrixoma
• PTS Deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
• Pubertas Praecox - See Testotoxicosis
• Puberty-induced gigantomastia (subtype) - See Gigantomastia
• Pudendal Neuralgia
• Puertorican infant hypotonia syndrome - See Qazi Markouizos syndrome
• PUJO - See Multicystic renal dysplasia, bilateral
• Pulmonar arteriovenous aneurysm - See Pulmonary arterio-veinous fistula
• Pulmonary agenesis - See Lung agenesis
• Pulmonary agenesis microphthalmi and diaphragmatic defect - See Microphthalmia syndromic 9
• Pulmonary aluminosis - See Aluminosis
• Pulmonary alveolar lipoproteinosis acquired - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar microlithiasis
• Pulmonary alveolar proteinosis acquired - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar proteinosis autoimmune - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar proteinosis, congenital - See Congenital pulmonary alveolar proteinosis
• Pulmonary aortic stenosis obstructive uropathy - See Kashani Strom Utley syndrome
• Pulmonary aplasia and triphalangia of the thumb - See Manouvrier syndrome
• Pulmonary arterial hypertension
• Pulmonary arterio-veinous fistula
• Pulmonary arteriovenous fistula - See Pulmonary arteriovenous malformation
• Pulmonary arteriovenous fistula - See Pulmonary arterio-veinous fistula
• Pulmonary arteriovenous malformation
• Pulmonary artery agenesis
• Pulmonary artery coming from the aorta
• Pulmonary artery familial dilatation
• Pulmonary artery, isolated unilateral absence of - See Unilateral absence of a pulmonary artery
• Pulmonary atresia with intact ventricular septum
• Pulmonary atresia with ventricular septal defect
• Pulmonary AVM - See Pulmonary arteriovenous malformation
• Pulmonary blastoma - See Pleuropulmonary blastoma
• Pulmonary cystic lymphangiectasis - See Congenital pulmonary lymphangiectasia
• Pulmonary edema of mountaineers
• Pulmonary fibrosis - from asbestos exposure - See Asbestosis
• Pulmonary hemosiderosis - See Idiopathic pulmonary hemosiderosis
• Pulmonary hyalinizing granuloma
• Pulmonary hypertension, familial persistent of the newborn - See Alveolar capillary dysplasia
• Pulmonary hypoplasia, familial primary
• Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia - See PAGOD syndrome
• Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome - See PAGOD syndrome
• Pulmonary infiltrates with eosinophilia - See Pneumonia, eosinophilic
• Pulmonary non-tuberculous mycobacterial infection - See Nontuberculous mycobacterial lung disease
• Pulmonary renal syndrome - See Goodpasture syndrome
• Pulmonary sequestration
• Pulmonary supravalvular stenosis
• Pulmonary surfactant protein B, deficiency of
• Pulmonary valve stenosis
• Pulmonary valves agenesis
• Pulmonary vein stenosis
• Pulmonary veins stenosis - See Pulmonary vein stenosis
• Pulmonary venoocclusive disease
• Pulmonary venous return anomaly
• Pulmonic stenosis
• Pulmonic stenosis brachytelephalangism and calcification of cartilages - See Keutel syndrome
• Pulp stones - See Dentin dysplasia, coronal
• Pulpal dysplasia - See Dentin dysplasia, coronal
• Pulseless disease - See Takayasu arteritis
• Punctate inner choroiditis - See Punctate inner choroidopathy
• Punctate inner choroidopathy
• Punctate palmoplantar hyperkeratosis type 2 - See Punctate palmoplantar keratoderma type 2
• Punctate palmoplantar keratoderma type 1 - See Punctate palmoplantar keratoderma type I
• Punctate palmoplantar keratoderma type 2
• Punctate palmoplantar keratoderma type I
• Punctate palmoplantar keratoderma with or without ectopic calcification - See Cole disease
• Punctate porokeratosis
• PUPPP - See Pruritic urticarial papules plaques of pregnancy
• PURA syndrome
• PURA-related neurodevelopmental disorder - See PURA syndrome
• Pure autonomic failure
• Pure red cell aplasia
• Puretic syndrome - See Hyaline fibromatosis syndrome
• Purine nucleoside phosphorylase deficiency
• Purpura simplex - not a rare disease
• Purpura, Schonlein-Henoch - See Henoch-Schonlein purpura
• Purpura, thrombotic thrombocytopenic - See Thrombotic thrombocytopenic purpura, acquired
• Purtilo syndrome - See X-linked lymphoproliferative syndrome
• Pustular psoriasis
• Pustulosis palmaris et plantaris
• Pustulosis subcornealis - See Subcorneal pustular dermatosis
• PV - See Polycythemia vera
• PVL - See Periventricular leukomalacia
• PVNH - See Periventricular heterotopia
• PVNH1 - See X-linked periventricular heterotopia
• PVOD - See Pulmonary venoocclusive disease
• PWS - See Prader-Willi syndrome
• PWS due to a point mutation - See Schaaf-Yang syndrome
• PWS due to point mutation - See Schaaf-Yang syndrome
• PXA - See Pleomorphic xanthoastrocytoma
• PXE - See Pseudoxanthoma elasticum
• PYCD - See Pycnodysostosis
• Pycnodysostosis
• PYGM deficiency - See Glycogen storage disease type 5
• PYKL - See Glycogen storage disease 8
• Pyknoachondrogenesis
• Pyknodysostosis - See Pycnodysostosis
• Pyle disease
• Pyle's disease - See Pyle disease
• Pyoderma gangrenosum
• Pyogenic arthritis, pyoderma gangrenosum and acne
• Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne - See Pyogenic arthritis, pyoderma gangrenosum and acne
• Pyogenic bacterial infections due to MyD88 deficiency - See MYD88 deficiency
• Pyogenic granuloma - not a rare disease
• Pyomyositis
• Pyramidal molars-abnormal upper lip syndrome
• Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxamine 5-prime-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine deficiency
• Pyridoxine dependency - See Pyridoxine-dependent epilepsy
• Pyridoxine dependency with seizures - See Pyridoxine-dependent epilepsy
• Pyridoxine refractory sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Pyridoxine-5'-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine-dependent epilepsy
• Pyridoxine-responsive sideroblastic anemia - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Pyriformis syndrome - See Piriformis syndrome
• Pyroglutamic aciduria - See Glutathione synthetase deficiency
• Pyroglutamicaciduria - See Glutathione synthetase deficiency
• Pyropoikilocytosis hereditary
• Pyruvate carboxylase deficiency
• Pyruvate decarboxylase deficiency
• Pyruvate dehydrogenase complex deficiency
• Pyruvate dehydrogenase deficiency - See Pyruvate dehydrogenase complex deficiency
• Pyruvate dehydrogenase E3 deficiency - See Dihydrolipoamide dehydrogenase deficiency
• Pyruvate dehydrogenase lipoic acid synthetase deficiency - See Lipoic acid synthetase deficiency
• Pyruvate dehydrogenase phosphatase deficiency
• Pyruvate kinase deficiency
• Pyruvate kinase deficiency of erythrocytes - See Pyruvate kinase deficiency
• Pyruvate kinase deficiency of red cells - See Pyruvate kinase deficiency
• Pyruvate kinase deficiency, liver type
• Pythiosis
• Pythium insidiosum infection - See Pythiosis