Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program P/2

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





P/2



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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
• PNET - See Supratentorial primitive neuroectodermal tumor
• Pneumoconiosis - See Coal worker's pneumoconiosis
• Pneumocystic carinii 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
• 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 type 2
• 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 turricephaly hypogenitalism
• 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 trigonocephaly agenesis of corpus callosum
• 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
• Pontoneocerebellar Hypoplasia
• 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
• Porcupine man - See Ichthyosis hystrix gravior
• 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
• Portal hypertension due to infrahepatic block
• 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
• Posterior valve urethra
• Post-fundoplication syndrome - See Gas bloat syndrome
• Postinfectious acute necrotizing hemorrhagic encephalopathy - See Infection-induced acute encephalopathy 3
• Post-infectious arthritis - See Reactive arthritis
• Post-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-Streptococcal Neurologic Disorders
• 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 Stomatocytosis I
• Potassium wasting - See Bartter syndrome
• Potassium-sensitive normokalemic periodic paralysis - See Normokalemic periodic paralysis
• 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
• PPK of Sybert - See Palmoplantar keratoderma of Sybert
• 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 porokeratosis
• PPPP - See Punctate palmoplantar keratoderma type 2
• 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
• Precalyceal canalicular ectasia - See Medullary sponge kidney
• Precocious epileptic encephalopathy
• Precocious myoclonic encephalopathy
• 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 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 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 Primary Fanconi syndrome
• Primary 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 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 testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities - SeeWeinstein Kliman Scully syndrome
• Primary thrombocythemia - See Essential thrombocythemia
• Primary tubular proximal acidosis
• Primary tumor of the liver - See Primary liver cancer
• Primary visual agnosia - See Agnosia
• Primative neuroectodermal tumor - See Supratentorial primitive neuroectodermal tumor
• 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 variant syndrome Ruvalcaba type
• 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 black carbon hyperpigmentation of infancy
• 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 Cholestasis, progressive familial intrahepatic 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 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
• 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
• Prosencephaly cerebellar dysgenesis
• 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 R deficiency
• 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 - See Albright's hereditary osteodystrophy
• Pseudoinflammatory fundus dystrophy
• Pseudo-iron-deficiency anemia - See Iron-refractory iron deficiency anemia
• Pseudomarfanism
• 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
• Pseudomongolism
• 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
• PSND - See Post-Streptococcal Neurologic Disorders
• 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 Potocki-Shaffer syndrome
• PSS - See Peeling skin syndrome
• PSVS - See Patent ductus venosus
• Psychogenic nonepileptic seizures - See Dissociative seizures
• Psychogenic purpura - See Gardner-Diamond syndrome
• Psychogenic seizures - See Dissociative seizures
• Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Psychosocial dwarfism - See Psychosocial short stature
• Psychosocial short stature
• PTA deficiency - See Factor XI deficiency
• PTC syndrome - See Multiple endocrine neoplasia type 2A
• PTCD - See Pontine tegmental cap dysplasia
• PTEN hamartoma tumor syndrome
• Pterigium Colli
• 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 - SeePHAVER 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 diastasis
• 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 arterio-veinous fistula
• Pulmonary arteriovenous fistula - See Pulmonary arteriovenous malformation
• 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 branches stenosis
• Pulmonary cystic lymphangiectasis - See Congenital pulmonary lymphangiectasia
• Pulmonary dysmaturity syndrome - See Wilson-Mikity syndrome
• 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
• Pulmonic stenosis with cafe-au-lait spots - See Watson syndrome
• Pulp stones - See Dentin dysplasia, coronal
• Pulpal dysplasia - See Dentin dysplasia, coronal
• Pulseless disease - See Takayasu arteritis
• Punctate acrokeratoderma freckle like pigmentation
• 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
• 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, glaucoma, abnormal upper lip - See Ackerman 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
• Pyruvate kinase deficiency, muscle type
• Pythiosis
• Pythium insidiosum infection - See Pythiosis