List of rare diseases-P
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NIH genetic and rare disease info[edit]
List of rare diseases-P is a rare disease.
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Rare diseases - List of rare diseases-P
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- p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency
- P2Y12 defect
- P450c11b1 deficiency
- PAC
- PAC syndrome
- Pachydermoperiostosis
- Pachygyria
- Pachygyria joint contractures facial abnormalities
- Pachygyria, frontotemporal
- Pachygyria, mental retardation and epilepsy (formerly)
- Pachygyria-intellectual disability-epilepsy syndrome
- Pachyonychia congenita
- Pachyonychia congenita syndrome
- Pacman dysplasia
- Pacman syndrome
- PACNS
- PACS1-related syndrome
- PAFD
- Paget disease juvenile type
- Paget disease of bone- not a rare disease.
- Paget disease of bone 5, juvenile-onset
- Paget disease of bone, familial
- Paget disease of the breast
- Paget disease, extramammary
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
- Paget's disease of the nipple
- Paget's disease, mammary
- PAGOD syndrome
- Pagon Bird Detter syndrome
- Pagon Stephan syndrome
- Pagon syndrome
- Pagon-Bird-Detter syndrome
- PAH
- Pahvant Valley plague
- Pai syndrome
- PAI1 deficiency
- PAI-1 deficiency
- PAID syndrome
- Paine syndrome
- Painful bladder syndrome- not a rare disease.
- Painful bruising syndrome
- Painful legs and moving toes syndrome
- Painful ophthalmoplegia
- Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
- Painless legs-moving toes (variant)
- PAIS
- Palagonia form of AFD
- Palagonia type of acrofacial dysostosis
- Palant cleft palate syndrome
- Palatodigital syndrome Catel-Manzke type
- Palatopharyngeal incompetence
- Palindromic rheumatism
- Palindromic rheumatism syndrome
- Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia
- Pallido-pyramidal disease
- Pallidopyramidal syndrome
- Pallister Hall syndrome
- Pallister Killian syndrome
- Pallister mosaic syndrome
- Pallister W syndrome
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Palmar/plantar melanoma
- Palmar-plantar hyperkeratosis and concomitant periodontal destruction
- Palmer Pagon syndrome
- Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia
- Palmoplantar hyperkeratosis and alopecia
- Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- Palmoplantar keratoderma
- Palmoplantar keratoderma and congenital alopecia, Stevanovic type
- Palmoplantar keratoderma and sensorineural deafness
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
- Palmoplantar keratoderma with periodontosis
- Palmoplantar keratoderma, Bothnian type
- Palmoplantar keratoderma, punctate type 3
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Palmoplantar keratoderma-sclerodactyly syndrome
- Palmoplantar keratoderma-spastic paralysis syndrome
- Palmoplantar pustulosis
- Palpebral coloboma lipoma Syndrome
- PAM
- PAN
- Panbronchiolitis, diffuse
- Pancreas accessorium
- Pancreas agenesis, dorsal
- Pancreas cancer
- Pancreas carcinoma
- Pancreas, annular
- Pancreas, dorsal, agenesis of
- Pancreatic acinar carcinoma, childhood
- Pancreatic adenoma
- Pancreatic cancer
- Pancreatic cancer, childhood
- Pancreatic carcinoma
- Pancreatic carcinoma, childhood
- Pancreatic cholera
- Pancreatic endocrine tumor
- Pancreatic Glucagonoma
- Pancreatic insufficiency and bone marrow dysfunction
- Pancreatic lipomatosis and duodenal atresia
- Pancreatic lipomatosis duodenal stenosis
- Pancreatic NET
- Pancreatic neuroendocrine neoplasm
- Pancreatic neuroendocrine tumor
- Pancreatic ulcerogenic tumor syndrome
- Pancreatic VIPoma
- Pancreatitis, pediatric
- Pancreatoblastoma
- Pancytopenia multiple congenital anomalies
- PANDAS
- Panhypopituitarism X-linked
- Panniculitis and localized lipodystrophy (subtype)
- Panniculitis nodular nonsuppurative
- Panostotic fibrous dysplasia
- PANS
- Pantothenate kinase-associated neurodegeneration
- Panuveitis
- PAP
- PAP acquired
- PAPA syndrome
- PAPAS
- Papillary cystadenocarcinoma
- Papillary cystadenoma lymphomatosum (formerly)
- Papillary eccrine adenoma
- Papillary ependymoma (histologic variant)
- Papillary glioneuronal tumors
- Papillary renal carcinoma, malignant - (subtype)
- Papillary renal cell adenocarcinoma
- Papillary renal cell carcinoma
- Papillary renal cell carcinoma, bilateral - (subtype)
- Papillary renal cell carcinoma, familial - (subtype)
- Papillary renal cell carcinoma, multiple - (subtype)
- Papillary renal cell carcinoma, sporadic - (subtype)
- Papillary thyroid carcinoma
- Papilledema
- Papilloma of choroid plexus
- Papillomatosis florid of nipple
- Papillon Lefevre syndrome
- Papillon-League-Psaume syndrome (formerly)
- Papillon-Lefèvre syndrome
- Papillorenal syndrome
- Papular acrodermatitis of childhood
- Papular epidermal nevi with skyline basal cell layers syndrome
- Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome
- Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS)
- Papular mucinosis
- Papular urticaria
- Papulosis atrophican maligna
- Paracoccidioidal granuloma
- Paracoccidioidomycosis
- Paraganglioma - glomus jugulare
- Paraganglioma and gastric stromal sarcoma
- Paraganglioma and gastrointestinal stromal tumor
- Paraganglioma and GIST
- Paraganglioma, familial malignant
- Paragangliomas 1
- Paragangliomas 2
- Paragangliomas 3
- Paragangliomas 4
- Paragangliomas familial 1
- Paragangliomas, hereditary extraadrenal
- Paragangliomata
- Paragonimiasis
- Paragonimus westermani infection
- Parainfluenza virus type 3
- Paralysis agitans- not a rare disease.
- Paralysis agitans, juvenile, of Hunt
- Paralysis periodica paramyotonica
- Paramyotonia congenita
- Paramyotonia congenita of Von Eulenburg
- Parana hard skin syndrome
- Paranasal sinus cancer, adult
- Paranasal sinus teratocarcinosarcoma (type)
- Paraneoplastic cerebellar degeneration
- Paraneoplastic Neurologic Disorders
- Paraneoplastic opsoclonus-myoclonus
- Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
- Paraomphalocele
- Parapemphigus
- Paraplegia
- Parapsoriasis
- Parapsoriasis en plaque
- Paraquat induced lung disease
- Paraquat lung
- Parasitic infection caused by Dracunculus medinensis
- Parastremmatic dwarfism
- Parastremmatic dysplasia
- Parathyroid cancer
- Parathyroid carcinoma
- Parathyroid, underactivity of
- PARC syndrome
- Parchment right ventricle
- Paris-Trousseau syndrome
- Paris-Trousseau thrombocytopenia
- Park 9
- PARK14
- PARK2
- PARK3
- Parkes Weber syndrome
- Parkinson disease- not a rare disease.
- Parkinson disease 14, autosomal recessive
- Parkinson disease 2
- Parkinson disease autosomal recessive, early onset
- Parkinson disease type 3
- Parkinson disease type 9
- Parkinson disease, juvenile, of Hunt
- Parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes
- Parkinsonism with alveolar hypoventilation and mental depression
- Parkinsonism, early onset, with diurnal fluctuation
- Parkinsonism, infantile, autosomal recessive
- Parkinsonism-dystonia infantile
- Parkinson's disease- not a rare disease.
- Paroxysmal cold hemoglobinuria
- Paroxysmal exercise-induced dystonia
- Paroxysmal exertion-induced dyskinesia
- Paroxysmal extreme pain disorder
- Paroxysmal familial ventricular fibrillation
- Paroxysmal hemicrania
- Paroxysmal kinesigenic choreathetosis
- Paroxysmal kinesigenic choreoathetosis
- Paroxysmal kinesigenic dyskinesia
- Paroxysmal nocturnal hemoglobinuria
- Paroxysmal sleep
- Paroxysmal ventricular fibrillation
- Paroxysomal nonkinesigenic dyskinesia
- Parry disease- not a rare disease.
- Parry-Romberg syndrome
- Pars planitis
- Parsonage Turner syndrome
- Partial 11q monosomy syndrome
- Partial agenesis of the dorsal pancreas
- Partial albinism and immunodeficiency syndrome
- Partial albinism and primary neurologic disease without hemophagocytic syndrome
- Partial androgen insensitivity syndrome
- Partial antibody deficiency
- Partial atrioventricular canal
- Partial atrioventricular septal defects
- Partial AVSD
- Partial common atrioventricular canal
- Partial deletion of chromosome Y
- Partial deletion of the long arm of the Y chromosome
- Partial deletion of Y
- Partial deletion of Y chromosome short arm
- Partial duplication of chromosome 1q
- Partial duplication of chromosome Xp
- Partial duplication of the long arm of chromosome 1
- Partial duplication of the short arm of chromosome X
- Partial facial palsy with urinary abnormalities
- Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
- Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
- Partial LCAT deficiency
- Partial lipodystrophy with Rieger anomaly and short stature
- Partial monosomy 10p
- Partial monosomy 10q
- Partial monosomy 11p
- Partial monosomy 11q
- Partial monosomy 12p
- Partial monosomy 12q
- Partial monosomy 14q
- Partial monosomy 15q
- Partial monosomy 16q
- Partial monosomy 17p
- Partial monosomy 17q
- Partial monosomy 19p
- Partial monosomy 19q
- Partial monosomy 1p
- Partial monosomy 1q
- Partial monosomy 20p
- Partial monosomy 20q
- Partial monosomy 21q
- Partial monosomy 22q
- Partial monosomy 2p
- Partial monosomy 2q
- Partial monosomy 3p
- Partial monosomy 3q
- Partial monosomy 4p
- Partial monosomy 4q
- Partial monosomy 5p
- Partial monosomy 5q
- Partial monosomy 6p
- Partial monosomy 6q
- Partial monosomy 7p
- Partial monosomy 7q
- Partial monosomy 8p
- Partial monosomy 8q
- Partial monosomy 9p
- Partial monosomy 9q
- Partial monosomy Xp
- Partial monosomy Xq
- Partial pancreatic agenesis
- Partial paralysis, familial
- Partial Pelger-Huet anomaly
- Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
- Partial trisomy 10p
- Partial trisomy 10q
- Partial trisomy 11q
- Partial trisomy 12p
- Partial trisomy 12q
- Partial trisomy 13q
- Partial trisomy 14q
- Partial trisomy 15q
- Partial trisomy 16p
- Partial trisomy 16q
- Partial trisomy 17p
- Partial trisomy 17q
- Partial trisomy 18p
- Partial trisomy 19p
- Partial trisomy 19q
- Partial trisomy 1p
- Partial trisomy 1q
- Partial trisomy 20p
- Partial trisomy 20q
- Partial trisomy 21q
- Partial trisomy 2p
- Partial trisomy 2q
- Partial trisomy 3p
- Partial trisomy 4p
- Partial trisomy 4q
- Partial trisomy 5p
- Partial trisomy 5q
- Partial trisomy 6p
- Partial trisomy 6q
- Partial trisomy 7p
- Partial trisomy 7q
- Partial trisomy 8p
- Partial trisomy 8q
- Partial trisomy 9p
- Partial trisomy 9q
- Partial trisomy of chromosome Xp
- Partial trisomy of chromosome 1q
- Partial trisomy of chromosome Xp
- Partial trisomy of the long arm of chromosome 1
- Partial trisomy of the short arm of chromosome X
- Partial trisomy Xq
- Partington syndrome
- Partington X-linked mental retardation syndrome
- Parvovirus antenatal infection
- Parvovirus B19 antenatal infection
- PAS
- PAS3
- Pascual-Castroviejo syndrome
- Pascual-Castroviejo syndrome type 2
- Pascual-Castroviejo type II syndrome
- PASH- not a rare disease.
- Pashayan syndrome
- PASLI disease
- Pasteurella multocida infection
- Patau syndrome
- Patchy alopecia- not a rare disease.
- Patel Bixler syndrome
- Patella aplasia, coxa vara, tarsal synostosis
- Patella aplasia-hypoplasia
- Patella hypoplasia skeletal malformations
- Patency of the ductus arteriosus
- Patent ductus arteriosus
- Patent ductus arteriosus familial (type)
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
- Patent ductus venosus
- Paternal uniparental disomy 14
- Paternal uniparental disomy for chromosome 11(type)
- Paternal uniparental disomy of chromosome 14
- Paterson’s syndrome
- Paterson-Brown-Kelly syndrome
- Paterson-Kelly syndrome
- Pathological crying and laughing- not a rare disease.
- Patterned dystrophy of retinal pigment epithelium
- Patterson Lowry syndrome
- Patterson pseudoleprechaunism syndrome
- Patterson Stevenson Fontaine syndrome
- Patterson-Lowry rhizomelic dysplasia
- Patterson's leprechaunoid syndrome
- Patterson-Stevenson-Fontaine syndrome
- Patulous Eustachian Tube- not a rare disease.
- Pauciarthritis, juvenile
- Pauciarticular chronic arthritis
- Pauciarticular onset juvenile idiopathic arthritis
- Paucicellular mastocytosis
- Paucity of interlobular bile ducts
- PAVM
- PBA- not a rare disease.
- PBC
- PBCRA
- PBD, ZSS
- PBD-Zellweger spectrum disorder
- PBD-ZSD
- PBD-ZSS
- PBFE deficiency
- PBGD deficiency
- PBLT
- PBS- not a rare disease.
- PBT
- PC deficiency
- PCARP
- PCBD
- PCBD deficiency
- PCC
- PCC deficiency
- PCDH19-related female-limited epilepsy
- PCDH19-related FLE
- PCDH19-related infantile epileptic encephalopathy
- PCFCL
- PCH
- PCH with optic atrophy
- P-CIIS
- PCK2 deficiency
- PCLD
- PCM
- PCNSL
- PCOS- not a rare disease.
- PD
- PDA
- PDA1
- PDB- not a rare disease.
- PDC deficiency
- PDD
- PDGFRB-associated chronic eosinophilic leukemia
- PDH deficiency
- PDHC
- PDJ
- PDP
- PDS
- PDS, defective biosynthesis of
- PDV
- Pearson marrow-pancreas syndrome
- Pearson syndrome
- Pearson's marrow/pancreas syndrome
- Pearson's syndrome
- Pectus carinatum
- Pectus excavatum, macrocephaly and dysplastic nails
- Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome
- PED
- Pediatric acute lymphoblastic leukemia
- Pediatric acute-onset neuropsychiatric syndrome
- Pediatric autoimmune disorders associated with Streptococcus infections
- Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus
- Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
- Pediatric Carcinoma of Liver Cell
- Pediatric Crohn's disease
- Pediatric Hepatocellular Carcinoma
- Pediatric Hepatoma
- Pediatric hypertension
- Pediatric Liver Cell Carcinoma
- Pediatric MS
- Pediatric multiple sclerosis
- Pediatric onset Crohn's disease
- Pediatric T-cell leukemia
- Pediatric ulcerative colitis
- pEDS
- Peeling skin disease
- Peeling skin syndrome
- Peg teeth
- PEHO syndrome
- PEL
- Pelger Huet anomaly
- Pelger-Huet anomaly
- Pelger-Huet nuclear anomaly
- Pelizaeus Merzbacher brain sclerosis
- Pelizaeus Merzbacher disease
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type
- Pelizaeus-Merzbacher-like disease
- Pellagra
- Pellagra like syndrome
- Pellagra-like rash with neurologic manifestations
- Pelletier-Leisti syndrome
- Pellucid marginal degeneration
- Pelvic dysplasia arthrogryposis of lower limbs
- Pelvic hypoplasia with arthrogryposis of lower limbs
- Pelvic hypoplasia with lower limb arthrogryposis
- Pelvic lipomatosis
- Pelvic pain syndrome- not a rare disease.
- Pelvic retroperitoneal liposarcoma
- Pelviscapular dysplasia
- Pelvi-ureteric junction obstruction
- Pemphigoid
- Pemphigoid gestationis
- Pemphigoid, ocular cicatricial
- Pemphigus
- Pemphigus and fogo selvagem
- Pemphigus foliaceus
- Pemphigus vulgaris
- Pena-Shokeir syndrome type 2
- Pena-Shokeir syndrome, type 1
- Pendred syndrome
- Penile cancer, adult
- Penile carcinoma
- Penile curvature- not a rare disease.
- Penis agenesia
- Penis agenesis
- Penoscrotal transposition
- PENS syndrome
- Pentalogy of Cantrell
- Pentasomy X
- Pentasomy X syndrome
- Penta-X syndrome
- Pentosuria
- Penttinen-Aula syndrome
- PEP carboxykinase deficiency
- PEPCK 1 deficiency
- PEPCK 2 deficiency
- PEPCK2
- PEPD
- Pepper syndrome
- Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia
- Peptidase deficiency
- Peptide growth factors deficiency
- Peptidic growth factors deficiency
- Perheentupa syndrome
- Periarteritis
- Pericardial constriction and growth failure
- Pericarditis arthropathy camptodactyly syndrome
- Pericarditis-arthropathy-camptodactyly syndrome
- Perifoveal telangiectasis- not a rare disease.
- Perihepatitis syndrome
- Perihilar cholangiocarcinoma
- Perilymph fistula
- Perilymphatic fistula
- Perilymphatic Gusher-deafness syndrome
- Perinatal arterial ischemic stroke
- Perinatal ischemic stroke
- Perinatal lethal Gaucher disease
- Perinatal stroke
- Perinatal Sudanophilic leukodystrophy
- Perinatally lethal OI
- Perineural cysts
- Perineurioma
- Periodic disease
- Periodic fever
- Periodic fever Dutch type
- Periodic fever, aphthous stomatitis, pharyngitis and adenitis
- Periodic fever, familial, autosomal dominant
- Periodic limb movements in sleep
- Periodic paralysis, potassium-sensitive cardiodysrhythmic type
- Periodic peritonitis
- Periodic systemic capillary leak syndrome
- Periodontal EDS
- Periodontal Ehlers-Danlos syndrome
- Periorificial lentiginosis syndrome
- Peripapillary choriopathy
- Peripartum cardiomyopathy
- Peripheral dysostosis
- Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome
- Peripheral fibroblastoma
- Peripheral nerve hyperexcitability
- Peripheral resistance to thyroid hormones
- Peripheral retinal inflammation
- Peripheral sensory neuropathy, autosomal dominant (PSN)
- Peripheral T-cell lymphoma
- Perisylvian syndrome
- Perisylvian syndrome, congenital bilateral
- Peritoneal retractile mesenteritis
- Periventricular heterotopia
- Periventricular leukomalacia
- Periventricular nodular heterotopia
- Periventricular nodular heterotopia 1
- Perlman syndrome
- PERM
- Permanent diabetes mellitus of infancy
- Permanent neonatal diabetes mellitus
- Pernicious anemia- not a rare disease.
- Pernicious anemia, congenital, due to defect of intrinsic factor
- Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria
- Pernio
- Perniosis
- Peromelia with micrognathia
- Peroneal muscular atrophy
- Peroneal muscular atrophy with pyramidal features, autosomal dominant
- Peroneal nerve, accessory deep
- Peroutka sneeze
- Peroxidase and phospholipid deficiency in eosinophils
- Peroxisomal Acyl-CoA oxidase deficiency
- Peroxisomal alanine glyoxylate aminotransferase deficiency
- Peroxisomal beta-oxidation disorder
- Peroxisomal bifunctional enzyme deficiency
- Peroxisomal biogenesis disorders
- Peroxisomal biogenesis disorders, Zellweger syndrome spectrum
- Peroxisomal defects- not a rare disease.
- Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
- Peroxisomal disease- not a rare disease.
- Peroxisome biogenesis disorder
- Peroxisome biogenesis disorder spectrum
- Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Peroxisome diseases- not a rare disease.
- Peroxisome disorders- not a rare disease.
- Perrault syndrome
- PERRS
- Perry syndrome
- Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
- Persistent acantholytic dermatosis- not a rare disease.
- Persistent genital arousal
- Persistent genital arousal disorder
- Persistent hiccups
- Persistent hyperinsulinemic hypoglycemia of infancy
- Persistent Mullerian duct syndrome
- Persistent mullerian duct syndrome, types 1 and 2
- Persistent oviduct syndrome
- Persistent truncus arteriosus
- Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia
- Perthes disease
- Perthes-like hip disease, enchondromata, and ecchondromata
- Pertussis
- Pes valgus, congenital convex
- PET- not a rare disease.
- Peters anomaly
- Peters anomaly with short limb dwarfism
- Peters plus syndrome
- Petit mal, impulsive
- Petit-Fryns syndrome
- Pettigrew syndrome
- Petty Laxova Wiedemann syndrome
- Peutz Jeghers polyposis
- Peutz-Jeghers syndrome
- PEXPD
- Peyronie disease- not a rare disease.
- PF
- PFAPA
- PFCP
- PFD
- PFD
- PFD Lavia type
- PFD, Finnish type
- Pfeiffer cardiocranial syndrome
- Pfeiffer Kapferer syndrome
- Pfeiffer Mayer syndrome
- Pfeiffer Palm Teller syndrome
- Pfeiffer Rockelein syndrome
- Pfeiffer Singer Zschiesche syndrome
- Pfeiffer syndrome
- Pfeiffer Tietze Welte syndrome
- Pfeiffer type acrocephalosyndactyly
- Pfeiffer-Singer-Zschiesche syndrome
- Pfeiffer-type cardiocranial syndrome
- PFHB1A
- PFHB1B
- PFHB2
- PFHBII
- PFIC1
- PFIC2
- PFIC3
- PFIC4
- PFKM deficiency
- PGA 1
- PGA 2
- PGAD
- PGA-I
- PGA-II
- PGA-III
- PGAM deficiency
- PGAMM deficiency
- PGK deficiency
- PGK1 deficiency
- PGL
- PGL 1
- PGL2
- PGL3
- PGL4
- PGM1-CDG
- PGM1-related congenital disorder of glycosylation
- PGM3-CDG
- PGM3-related congenital disorder of glycosylation
- PGS
- PH III
- PHA
- PHA1A
- PHA1B
- PHA2
- PHACE association
- PHACE syndrome
- PHACES association
- Phacomatosis pigmentokeratotica
- Phacomatosis pigmentovascularis
- Phaeohyphomycosis
- Phagedenic gingivitis
- Phakomatosis pigmentovascularis
- Pharmacogenic myopathy
- Pharynx and larynx hypoplasia with omphalocele
- PHAVER syndrome
- PHC syndrome
- Phelan-McDermid syndrome
- Phenobarbital antenatal exposure
- Phenobarbital embryopathy
- Phenotypic diarrhea
- Phenylalanine hydroxylase deficiency
- Phenylketonuria
- Phenylketonuria type 2
- Phenytoin Embryopathy
- Pheochromocytoma
- Pheochromocytoma and amyloid producing medullary thyroid carcinoma
- Pheochromocytoma and islet cell tumor of the pancreas
- Pheochromocytoma, childhood
- Pheochromocytoma, extraadrenal and cervical paraganglioma
- Pheochromocytoma, familial extraadrenal
- Pheochromocytoma-islet cell tumor syndrome
- PHHI
- Philadelphia-negative chronic myeloid leukemia
- Philippine hemorrhagic fever
- PHIP-Related disorder
- Phocomelia
- Phocomelia ectrodactyly deafness sinus arrhythmia
- Phocomelia thrombocytopenia encephalocele and urogenital malformations
- Phocomelia, Schinzel type
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- Phosphatidylcholine Red cell membrane disorder
- Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
- Phosphoenolpyruvate carboxykinase 2 deficiency
- Phosphoenolpyruvate carboxykinase deficiency
- Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency
- Phosphoenolpyruvate carboxylase deficiency
- Phosphoethanolaminuria
- Phosphoethanol-aminuria
- Phosphoglucomutase 3 deficiency
- Phosphoglucomutase deficiency type 1
- Phosphoglucomutase deficiency type 3
- Phosphoglucomutase-1 deficiency
- Phosphoglycerate kinase 1 deficiency
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Phospholipase A2-associated neurodegeneration
- Phosphomannoisomerase deficiency
- Phosphomannomutase 2 deficiency
- Phosphopyruvate carboxylase deficiency
- Phosphoribosylpyrophosphate synthetase deficiency
- Phosphorylase deficiency glycogen-storage disease of liver
- Phosphorylase kinase deficiency of liver
- Phosphoserine aminotransferase deficiency
- Photic sneeze reflex
- Photosensitive epilepsy
- Photosensitivity with defective DNA synthesis
- PHP II
- PHP1A
- PHP1B
- PHP1C
- PHP2
- PHPX
- PHS
- PHSH
- PHTS
- Phyllodes breast tumor
- Phyllodes tumor of the breast
- Phyllodes tumor of the prostate
- Phylloides tumor
- Physiologic anaemic macules
- Phytanic acid oxidase deficiency
- Phytosterolemia
- PIC
- PICA syndrome
- Piccardi-Lassueur-Little syndrome
- Pick disease of the brain
- Pick's disease
- Piebald trait neurologic defects
- Piebaldism
- Piepkorn Karp Hickok syndrome
- Pierquin syndrome
- Pierre Marie cerebellar ataxia (formerly)
- Pierre Robin sequence
- Pierre Robin sequence - congenital heart defect - talipes
- Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
- Pierre Robin sequence-congenital heart defect-talipes syndrome
- Pierre Robin syndrome - congenital heart defect - talipes
- Pierre Robin syndrome and oligodactyly
- Pierre Robin syndrome skeletal dysplasia polydactyly
- Pierre Robin syndrome with congenital heart malformation and clubfoot
- Pierre Robin syndrome with fetal chondrodysplasia
- Pierre Robin syndrome with hyperphalangy and clinodactyly
- Pierre Robin syndrome, faciodigital anomaly
- Pierre Robin syndrome-congenital heart defect-talipes syndrome
- Pierre-Robin syndrome
- Pierson syndrome
- PIGM-CDG
- Pigmentary abnormality of the anterior segment of the eye- not a rare disease.
- Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts
- Pigmentary disorder with hearing loss
- Pigmentary orthochromatic leukodystrophy
- Pigmentary retinopathy
- Pigmentary retinopathy-intellectual disability syndrome
- Pigment-dispersion syndrome
- Pigmented dermatofibrosarcoma protuberans
- Pigmented purpura
- Pigmented purpuric dermatosis
- Pigmented purpuric eruption
- Pigmented villonodular synovitis
- Pignata Guarino syndrome
- PIGN-CDG - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- PIK3CA-associated segmental overgrowth
- PIK3CA-related overgrowth spectrum
- Pili annulati
- Pili torti
- Pili torti and developmental delay
- Pili torti and nerve deafness
- Pili torti developmental delay neurological abnormalities
- Pili torti onychodysplasia
- Pili torti-sensorineural hearing loss
- Pili trianguli et Canaliculi
- Pillay syndrome
- Pilli Annulati
- Pilocytic astrocytoma
- Pilodental dysplasia with refractive errors
- Pilomatricoma
- Pilomatrixoma
- Pilotto syndrome
- Pindborg tumor
- Pineal Cell Tumor
- Pineal Cell Tumour
- Pineal cyst- not a rare disease.
- Pineal germ cell tumor
- Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
- Pineal parenchymal tumors of intermediate differentiation
- Pineal region germinoma
- Pinealocytoma
- Pinealoma
- Pineoblastoma
- Pineocytoma
- Pingelapese blindness
- Pinheiro Freire-Maia Miranda syndrome
- Pinhole pupils
- Pinta
- PIRA
- Piriformis syndrome
- Pitt Hopkins syndrome
- Pitt Williams brachydactyly
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Pitt-Rogers-Danks syndrome
- Pituitary cancer
- Pituitary carcinoma
- Pituitary corticotroph micro-adenoma
- Pituitary cretinism
- Pituitary dependent Cushing syndrome
- Pituitary diabetes insipidus
- Pituitary dwarfism 1
- Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
- Pituitary dwarfism II
- Pituitary dwarfism IV (formerly)
- Pituitary dwarfism with large sella turcica
- Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
- Pituitary giant
- Pituitary hormone deficiency, combined 1
- Pituitary hormone deficiency, combined 3
- Pituitary hormone deficiency, combined 4
- Pituitary hormone deficiency, combined with or without cerebellar defects
- Pituitary insufficiency
- Pituitary lactotrophic adenoma
- Pituitary stalk interruption syndrome
- Pituitary-dependent Cushing syndrome
- Pityriasis lichenoides
- Pityriasis lichenoides chronica
- Pityriasis lichenoides et varioliformis acuta
- Pityriasis rotunda
- Pityriasis rubra pilaris
- Piussan Lenaerts Mathieu syndrome
- PIV3
- PJI
- PJI
- PJS
- PK deficiency
- PKAN
- PKD- not a rare disease.
- PKDTS
- PKDYS
- PKND
- PKS
- PKU
- PKU type 2
- PKWS
- PLA2G6-related dystonia-parkinsonism
- Placenta Diseases
- Placenta disorder
- Placenta neoplasm
- Placental steroid sulfatase deficiency
- Plagiocephaly
- PLAN
- Plant sterol storage disease
- Plasma cell dyscrasia
- Plasma cell leukemia
- Plasma cell myeloma
- Plasma thromboplastin antecedent deficiency
- Plasmablastic lymphoma
- Plasmablastic multicentric Castleman disease
- Plasmacytoma
- Plasminogen activator inhibitor 1 deficiency
- Plasminogen activator inhibitor type 1 deficiency
- Platelet alpha-granule deficiency
- PLATELET CYCLOOXYGENASE DEFICIENCY
- Platelet defects and oculocutaneous albinism
- Platelet factor X receptor deficiency
- Platelet fibrinogen receptor, deficiency of
- Platelet glycoprotein 1b, deficiency of
- Platelet glycoprotein 2B 3A deficiency
- Platelet granule deficiency disorder
- Platelet storage pool deficiency
- Platelet storage pool diseases
- Platelet-type bleeding disorder-11
- Platyspondylic lethal skeletal dysplasia Torrance type
- Platyspondyly with amelogenesis imperfecta
- PLCA
- Pleiotropic, autosomal dominant disorder affecting connective tissue
- Pleoconial myopathy with salt craving
- Pleomorphic xanthoastrocytoma
- Pleonosteosis Leri type
- Pleuroparenchymal fibroelastosis
- Pleuropulmonary blastoma
- PLEVA
- Plexosarcoma
- PLIN1-related familial partial lipodystrophy
- PLIN1-related FPLD
- PLOSL
- Plott syndrome
- PLS juvenile
- PLSD San Diego type
- PLSDT
- Plummer Vinson syndrome
- Plummer-Vinson syndrome
- Plurimalformative syndrome
- PMC
- PMCD
- PMD
- PMDS
- PME type 6
- PMGX
- PML
- PMLD
- PMM2-CDG
- PMM2-CDG (CDG-Ia)
- PMP
- PMP syndrome
- PMS
- PMSE Syndrome
- PMV
- PND
- PNDC
- PNDM
- PNES
- PNET
- Pneumoconiosis
- Pneumocystis carinii pneumonia (former)
- Pneumocystis jirovecii pneumonia
- Pneumocystis pneumonia
- Pneumocystosis
- Pneumonia caused by Pseudomonas aeruginosa infection
- Pneumonia lipid
- Pneumonia, eosinophilic
- PNH
- PNP deficiency
- PNPO Deficiency
- PNPO-related neonatal epileptic encephalopathy
- POADS syndrome
- Podder-Tolmie syndrome
- POEMS syndrome
- POFD
- POH
- Poikiloderma atrophicans and cataract
- Poikiloderma Congenitale
- Poikiloderma of Kindler
- Poikiloderma of Rothmund-Thomson
- Poikiloderma with neutropenia
- Poikiloderma with neutropenia Clericuzio type
- Poikiloderma, Alopecia, Retrognathism, and Cleft palate
- Poikiloderma, congenital, with bullae, weary type
- Poikiloderma, hereditary acrokeratotic
- Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- POIKTMP
- POIKTMP syndrome
- Pointer syndrome
- POIS
- Pol III disorder
- Pol III-related hypomyelinating leukodystrophies
- Pol III-related leukodystrophy
- Poland anomaly
- Poland sequence
- Poland syndactyly
- Poland syndrome
- Poland's syndrome
- POLD
- Polio
- Polio late effects
- Poliodystrophia cerebri progressiva
- Poliomyelitis
- POLIP
- POLR3-Related Leukodystrophy
- Polyarteritis
- Polyarteritis nodosa
- Polyarteritis nodosa, childhood-onset
- Polyarticular juvenile rheumatoid arthritis
- Polyarticular onset juvenile idiopathic arthritis
- Polychondropathia
- Polycystic bone disease
- Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia
- Polycystic kidney disease- not a rare disease.
- Polycystic kidney disease, adult type- not a rare disease.
- Polycystic kidney disease, infantile type
- Polycystic kidneys- 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
- Polycythemia rubra vera
- Polycythemia vera
- Polycythemia, primary familial and congenital
- Polydactylia
- Polydactylism
- Polydactyly
- Polydactyly - cleft lip/palate - psychomotor retardation
- Polydactyly alopecia seborrheic dermatitis
- Polydactyly cleft lip palate psychomotor retardation
- Polydactyly myopia syndrome
- Polydactyly of a biphalangeal thumb
- Polydactyly of a triphalangeal thumb
- Polydactyly of an index finger
- Polydactyly postaxial dental and vertebral
- Polydactyly postaxial with median cleft of upper lip
- Polydactyly preaxial 1
- Polydactyly preaxial 4
- Polydactyly syndrome middle ray duplication
- Polydactyly with absent tibia
- Polydactyly with neonatal chondrodystrophy type 1
- Polydactyly with neonatal chondrodystrophy type 2
- Polydactyly with neonatal chondrodystrophy type III
- Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence
- Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
- Polydactyly-cleft lip/palate-psychomotor retardation syndrome
- Polyembryoma
- Polyendocrinopathy, immune dysfunction and diarrhea x-linked
- Polyglandular autoimmune syndrome type 1
- Polyglandular autoimmune syndrome type 3
- Polyglandular autoimmune syndrome, type 2
- Polyglandular deficiency syndrome type 2
- Polyglucosan body disease, adult form
- Polyglucosan body neuropathy, adult form
- Polygonal cell hepatocellular carcinoma with fibrous stroma
- Polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures
- Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
- Polymicrogyria- not a rare disease.
- Polymicrogyria, bilateral perisylvian
- Polymorphic catecholergic ventricular tachycardia
- Polymorphic eruption of pregnancy
- Polymorphic reticulosis
- Polymorphic vitelline macular degeneration
- Polymorphous low-grade adenocarcinoma
- Polymyositis
- Polynesian bronchiectasis
- Polyneuropathy - intellectual deficit - acromicria - premature menopause
- Polyneuropathy hepatosplenomegaly hyperpigmentation
- Polyneuropathy organomegaly
- Polyneuropathy, cataract, deafness syndrome
- Polyneuropathy, familial recurrent
- Polyneuropathy, hand defect
- Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction
- Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome
- Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Polyomavirus allograft nephropathy
- Polyomavirus nephropathy
- Polyomavirus-related transplant nephropathy
- Polyosteolysis/hyperostosis syndrome
- Polyostotic fibrous dysplasia
- Polyostotic osteolytic dysplasia, hereditary expansile
- Polyposis coli and multiple hard and soft tissue tumors
- Polyposis familial of entire gastrointestinal tract
- Polyposis juvenile intestinal
- Polyposis skin pigmentation alopecia fingernail changes
- Polyposis, adenomatous intestinal
- Polyposis, hamartomatous intestinal
- Polyps-and-spots syndrome
- Polysyndactyly
- Polysyndactyly cardiac malformation
- Polysyndactyly overgrowth syndrome
- Polysyndactyly type Haas
- Polysyndactyly uncomplicated
- Polysyndactyly with peculiar skull shape
- Polysyndactyly, Haas type
- Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate
- POMA syndrome
- POMC deficiency
- Pompe disease
- Poncet Spiegler cylindroma
- Poncet-Spiegler's cylindroma
- Pontine hemorrhage- not a rare disease.
- Pontine tegmental cap dysplasia
- Pontobulbar palsy and neurosensory deafness
- Pontobulbar palsy with deafness
- 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
- Pontocerebellar hypoplasia with infantile spinal muscular atrophy
- Poorly differentiated neuroendocrine carcinoma of the bladder
- Popliteal pterygium syndrome
- Popliteal pterygium syndrome lethal type
- Popliteal pterygium syndrome, Bartsocas-Papas type
- POR deficiency
- Porak and Durante disease
- PORC
- Porcelain nails
- PORD
- Porencephaly
- Porencephaly cerebellar hypoplasia internal malformations
- Porocarcinoma
- Porokeratosis of Mibelli
- Porokeratosis punctata palmaris et plantaris
- Porokeratosis, disseminated superficial actinic 1
- Porokeratosis, disseminated superficial actinic 2
- Porphobilinogen deaminase deficiency
- Porphyria
- Porphyria cutanea tarda
- Porphyria hepatica coproporphyria
- Porphyria hepatica II
- Porphyria variegate
- Porphyria, Chester type
- Porphyria, congenital erythropoietic
- Porphyria, hepatic
- Porphyria, South African type
- Porphyria, Swedish type
- Portal hypertension- not a rare disease.
- Portosystemic venous shunt, congenital
- Port-wine stain familial multiple
- Positive rheumatoid factor polyarthritis
- Posner-Schlossman syndrome
- Post Finasteride syndrome
- Post orgasmic sick syndrome
- Post Polio syndrome
- Postanginal sepsis secondary to orophyngeal infection
- Postaxial acrofacial dysostosis (POADS) syndrome
- Postaxial Polydactyly with progressive myopia
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- Postaxial polydactyly-intellectual disability syndrome
- Postaxial polydactyly-progressive myopia syndrome
- Post-encephalitic Kluver Bucy syndrome (type)
- Posterior column ataxia
- Posterior column ataxia with retinitis pigmentosa
- Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
- Posterior inferior cerebellar artery syndrome
- Posterior laryngeal cleft (PLC)
- Posterior polar cataract, 1
- Posterior polar cataract, 4
- Posterior thalamic syndrome (former)
- Posterior Tibial Nerve Neuralgia
- Posterior urethral valves
- Posterior uveitis
- Post-fundoplication syndrome
- Postinfectious acute necrotizing hemorrhagic encephalopathy
- Post-infectious arthritis
- Postinfectious myocarditi
- Post-infectious myocarditis
- Post-infectious reactive arthropathy
- Post-infective polyneuritis
- Post-irradiation angiosarcoma of the breast
- Postmastectomy extremity angiosarcoma
- Postnatal progressive microcephaly, seizures, and brain atrophy
- Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation
- Postorgasmic illness syndrome
- Post-orgasmic illness syndrome
- Postpartum cardiomyopathy
- Postpartum hypopituitarism
- Postpartum panhypopituitarism
- Postpartum panhypopituitary syndrome
- Postpartum pituitary necrosis
- Post-polio muscular atrophy
- Post-polio sequelae
- Postpolio syndrome
- Post-poliomyelitic syndrome
- Postpoliomyelitis syndrome
- Post-transplant lymphoproliferative disease
- Post-transplant lymphoproliferative disorder
- Post-traumatic epilepsy
- Post-traumatic Kluver Bucy syndrome (type)
- Postural orthostatic tachycardia syndrome- not a rare disease.
- Postural orthostatic tachycardia syndrome due to NET deficiency
- Postural tachycardia syndrome- not a rare disease.
- Postural tachycardia syndrome due to NET deficiency
- POT
- Potassium aggravated myotonia
- Potassium and magnesium depletion
- Potassium sodium disorder of erythrocyte
- Potassium wasting
- Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
- Potato nose
- Potocki-Lupski syndrome
- Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
- Potocki-Shaffer syndrome
- POTS- not a rare disease.
- POTS due to NET deficiency
- Potter sequence
- Potter syndrome
- Powell-Venencie-Gordon syndrome
- PPA
- PPAC
- PPARG-related familial partial lipodystrophy
- PPARG-related FPLD
- PPB
- PPCA deficiency
- PPD
- PPD1
- PPD2
- PPD3
- PPD4
- PPH
- PPHP
- PPK diffusa circumscripta
- PPKB
- PPK-CA, Stevanovic type
- PPKP2
- PPKS1
- PPKS3
- PPM-X syndrome
- PPNAD
- PPOX deficiency
- PPP
- PPPP
- PPPP
- PPS
- PPSH
- PPT syndrome
- PPTID
- PPV
- PR
- Prader-Labhart-Willi syndrome
- Prader-Willi habitus, osteopenia, and camptodactyly
- Prader-Willi syndrome
- Prader-Willi syndrome due to a point mutation
- Prader-Willi syndrome due to point mutation
- Prader-Willi-like syndrome
- Prata-Liberal-Goncalves syndrome
- PRCA
- Preauricular sinus- not a rare disease.
- Preaxial acrofacial dysostosis
- Preaxial brachydactyly syndrome, Temtamy type
- Preaxial deficiency, postaxial polydactyly and hypospadias
- Preaxial polydactyly 1
- Preaxial polydactyly 4
- Preaxial polydactyly of fingers
- Preaxial polydactyly of hand
- Preaxial polydactyly type 1
- Preaxial polydactyly type 1
- Preaxial polydactyly type 2
- Preaxial polydactyly type 3
- Preaxial polydactyly type 4
- Preaxial polydactyly type 4
- Precalicial canalicular ectasia
- Precalyceal canalicular ectasia
- Precocious puberty
- Precocious puberty with spastic paraplegia
- Precocious puberty, gonadotropin-dependent
- Precocious puberty, male limited
- Preexcitation syndrome- not a rare disease.
- Pregnancy related cholestasis
- Pregnancy-induced gigantomastia (subtype)
- Pregnancy-related cholestasis
- Prekallikrein deficiency, congenital
- Premature aging Okamoto type
- Premature aging syndrome Penttinen type
- Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay
- Premature Aging Syndrome, Penttinen type
- Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder
- Premature ovarian failure 1
- Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms
- Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly
- Premolar aplasia, hyperhidrosis, and canities prematura
- Prenatal cocaine exposure
- Prepenile scrotum
- Presenile dementia with bone cysts
- Presenile dementia with spastic ataxia
- Presenile dementia, Kraepelin type
- Presenile tremor syndrome- not a rare disease.
- Presentey anomaly
- Pressure-induced localized lipoatrophy (subtype)
- Pretibial DEB
- Pretibial dystrophic epidermolysis bullosa
- Pretibial epidermolysis bullosa
- Pretzel syndrome
- Priapism
- Priapism, familial idiopathic
- Prieto syndrome
- Prieto-Badia-Mulas syndrome
- Prieur Griscelli syndrome
- Primary acalvaria
- Primary achalasia
- Primary acquired cholesteatoma (type)
- Primary acquired sideroblastic anemia
- Primary agammaglobulinemia
- Primary AL amyloidosis
- Primary aldosteronism- not a rare disease.
- Primary alveolar hypoventilation
- Primary amebic meningoencephalitis
- Primary amenorrhoea with coloboma and total agenesis of the corpus callosum
- Primary amoebic meningoencephalitis
- Primary amyloidosis (Formerly)
- Primary angiitis of the central nervous system
- Primary antibody deficiency
- Primary avascular necrosis of the femoral head
- Primary basilar impression
- Primary biliary cholangitis
- Primary Biliary Cirrhosis
- Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia
- Primary blepharospasm
- Primary bone cancer
- Primary brain lymphoma
- Primary cancer of liver
- Primary cardiac tumors, childhood
- Primary carnitine deficiency
- Primary central nervous system lymphoma
- Primary central nervous system vasculitis
- Primary central sleep apnea
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia and situs inversus
- Primary ciliary dyskinesia, Kartagener type
- Primary CNS lymphoma
- Primary CNS melanoma
- Primary CNS vasculitis
- Primary congenital erythrocytosis
- Primary congenital glaucoma
- Primary congenital glaucoma type 3B
- Primary congenital lymphedema
- Primary cough headache
- Primary cutaneous amyloidosis
- Primary cutaneous follicle center lymphoma
- Primary Dentatum Atrophy
- Primary effusion lymphoma
- Primary erythermalgia
- Primary erythromelalgia
- Primary Exertional Headache
- Primary familial and congenital polycythemia
- Primary familial brain calcification
- Primary Familial Brain Calcification
- Primary familial polycythemia
- Primary Fanconi renotubular syndrome
- Primary Fanconi syndrome
- Primary gastric lymphoma
- primary gastrointestinal melanoma
- Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation
- Primary growth hormone insensitivity
- Primary growth hormone resistance
- Primary headache associated with sexual activity
- Primary hyperaldosteronism- not a rare disease.
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary hyperoxaluria type 3
- Primary hyperparathyroidism
- Primary hypersomnia
- Primary hypertrophic osteoarthropathy
- Primary hypogammaglobulinemia
- Primary hypomagnesemia with secondary hypocalcemia
- Primary idiopathic cold urticaria
- Primary ILD specific to childhood
- Primary interstitial lung disease specific to childhood
- Primary intestinal lymphangiectasia
- Primary intestinal lymphangiectasis
- Primary lateral sclerosis
- Primary lateral sclerosis, juvenile
- Primary liver cancer
- Primary Liver Carcinoma
- Primary localized cutaneous amyloidosis
- Primary lymphoma, CNS
- Primary macronodular adrenal hyperplasia
- Primary Malignant Liver Neoplasm
- Primary malignant melanoma of the cervix
- Primary malignant melanoma of the cervix uteri
- Primary malignant melanoma of the conjunctiva
- Primary malignant melanoma of the uterine cervix
- Primary malignant neoplasm of bone
- Primary melanoma of the central nervous system
- Primary melanoma of the CNS
- Primary membranoproliferative glomerulonephritis
- Primary meningeal melanoma
- Primary mucoepidermoid cutaneous carcinoma
- Primary myelofibrosis
- Primary non-essential cutis verticis gyrata
- Primary open angle glaucoma juvenile onset 1
- Primary orbital lymphoma
- Primary orthostatic hypotension
- Primary orthostatic tremor
- Primary parkinsonism- not a rare disease.
- Primary pigmented nodular adrenocortical disease
- Primary polycythemia
- Primary polydipsia
- Primary progressive aphasia
- Primary progressive aphasia syndrome
- Primary pulmonary hypertension
- Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet
- Primary release disorder of platelets
- Primary sclerosing cholangitis
- Primary spontaneous pneumothorax
- Primary systemic AL amyloidosis
- Primary systemic amyloidosis
- Primary T-Cell Immunodeficiency Disorders
- Primary thrombocythemia
- Primary tubular proximal acidosis
- Primary tumor of the liver
- Primary visual agnosia
- Primitive anophthalmia
- Primitive neuroectodermal tumor (PNET) (type)
- Primitive renal tubule syndrome
- Primordial dwarfism
- Primordial microcephalic dwarfism, Crachami type
- Primrose syndrome
- Prinzmetal angina
- Prinzmetal's variant angina
- PRLoma
- PRL-secreting pituitary adenoma
- Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence
- Progeria
- Progeria syndrome, childhood-onset, with osteolysis
- Progeria-like syndrome
- Progeroid nanism
- Progeroid short stature with pigmented nevi
- Progeroid syndrome congenital Petty type
- Progeroid syndrome neonatal
- Progeroid syndrome of De Barsy
- Progeroid syndrome Petty type
- Progeroid syndrome, De Barsy type
- Progeroid syndrome, Penttinen type
- Prognathism mandibular
- Progressiva symmetrica erythrokeratodermia
- Progressive acromelanosis
- Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance
- Progressive bifocal chorioretinal atrophy
- Progressive bulbar atrophy
- Progressive bulbar palsy
- Progressive bulbar palsy with sensorineural deafness
- Progressive cerebral poliodystrophy
- Progressive cone degeneration
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
- Progressive deafness with stapes fixation
- Progressive deforming osteogenesis imperfecta
- Progressive diaphyseal dysplasia
- Progressive diaphyseal dysplasia with striations of the bones
- Progressive encephalomyelitis with rigidity and myoclonus
- Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy
- Progressive epilepsy - intellectual disability, Finnish type
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia and scoliosis
- Progressive external ophthalmoplegia with cerebellar ataxia infantile
- Progressive external ophthalmoplegia, autosomal recessive 1
- Progressive familial heart block
- Progressive familial heart block type 1A
- Progressive familial heart block type 1B
- Progressive familial heart block type 2
- Progressive familial intrahepatic cholestasis
- Progressive familial intrahepatic cholestasis 1
- 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
- Progressive hemifacial atrophy
- Progressive isolated segmental anhidrosis
- Progressive kinking of the hair, acquired
- Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy
- Progressive multifocal leukoencephalopathy
- Progressive myoclonic epilepsy
- Progressive myoclonic epilepsy 3
- Progressive myoclonic epilepsy type 6
- Progressive myoclonus ataxia
- Progressive myoclonus epilepsy baltic myoclonic epilepsy
- Progressive myoclonus epilepsy type 6
- Progressive myositis ossificans
- Progressive non-fluent aphasia
- Progressive osseous heteroplasia
- Progressive ossifying myositis
- Progressive pigmented purpura
- Progressive pseudorheumatoid arthropathy of childhood
- Progressive pseudorheumatoid chondrodysplasia
- Progressive pseudorheumatoid dysplasia
- Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss (formerly)
- Progressive supranuclear palsy
- Progressive supranuclear palsy atypical
- Progressive symmetric erythrokeratodermia
- Progressive systemic sclerosis
- Progressive systemic sclerosis sine scleroderma
- Progressive tapetochoroidal dystrophy
- Progressive transformation of germinal centers
- Progressively deforming OI
- Prolactinoma
- Prolactin-Producing Pituitary Gland Adenoma
- Prolactin-secreting pituitary adenoma
- Prolapsed mitral valve
- Prolidase deficiency
- Proliferating pilar cyst
- Proliferating trichilemmal cyst
- Proliferative verrucous leukoplakia
- Proline hydrogenase deficiency
- Proline oxidase deficiency
- Prolonged electroretinal response suppression
- Prolonged QT interval in EKG and sudden death
- Prominent glabella microcephaly hypogenitalism
- PROMM
- Proopiomelanocortin deficiency
- PROP
- Properdin deficiency
- Properdin deficiency, type 1
- Properdin deficiency, X-linked
- Properdin P factor deficiency
- Propionic acidemia
- Propionicacidemia
- Propionyl-CoA carboxylase deficiency
- Propriospinal myoclonus
- Proptosis, Robin association, clenched hands, and multiple abnormalities
- PROSAPOSIN DEFICIENCY
- Prosopagnosia, congenital
- Prosopagnosia, developmental
- Prosopagnosia, hereditary
- PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
- Prostate cancer, familial
- Prostate cancer, hereditary
- Prostatic malacoplakia associated with prostatic abscess
- Prostatic malacoplakia with prostatic and seminal vesicle abscess
- Prostatic stromal proliferation of uncertain malignant potential
- Prosthetic joint infection
- Protective protein/Cathepsin A deficiency
- Protein C deficiency- not a rare disease.
- Protein S deficiency
- Protein surplus myopathy (former name)
- Protein-losing enteropathy-hepatic fibrosis syndrome
- Proteodermatan sulfate, defective biosynthesis of
- Proteus like syndrome mental retardation eye defect
- Proteus syndrome
- Proteus-like syndrome
- [[Prothrombin 20210G>A thrombophilia]]
- Prothrombin deficiency
- Prothrombin G20210A thrombophilia
- Prothrombin thrombophilia
- Prothrombin-related thrombophilia
- Protoplasmic astrocytoma (histologic variant)
- Protoporphyria
- Protoporphyrinogen oxidase deficiency
- Proud Levine Carpenter syndrome
- Proud syndrome
- Proximal 11p deletion syndrome
- Proximal 18q-
- Proximal 18q deletion
- Proximal 18q deletion syndrome
- Proximal chromosome 18q deletion syndrome
- Proximal femoral focal deficiency (subtype)
- Proximal myopathy with extrapyramidal signs
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy, type 1
- Proximal symphalangism
- Proximal symphalangism
- Proximal tubulopathy, diabetes mellitus and cerebellar ataxia
- Proximal, smooth fusion of 2-6 cm between the radius and ulna and absent head of the radius
- PRPP synthetase deficiency
- PRS
- PRTS
- Prune belly syndrome
- Prurigo nodularis
- Pruritic urticarial papules and plaques of pregnancy, familial (subtype)
- Pruritic urticarial papules plaques of pregnancy
- PRV
- PSACH
- PSAPD
- PSAT deficiency
- PSCOO
- PSE
- PSEK
- Pseudo Gaucher disease
- Pseudo pelade of Brocq
- Pseudo Pelger anomaly
- Pseudo Pelger-Huet anomaly
- Pseudo trisomy 13 syndrome
- Pseudoachondroplasia
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic dysplasia 2
- Pseudoachondroplastic spondyloepiphyseal dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Pseudoadrenoleukodystrophy
- Pseudoainhum
- Pseudoaldosteronism
- Pseudoaminopterin syndrome
- Pseudo-Angelman syndrome
- Pseudoangiomatous stromal hyperplasia- not a rare disease.
- Pseudoangiomatous stromal hyperplasia of the breast- not a rare disease.
- Pseudobulbar affect- not a rare disease.
- Pseudocholinesterase deficiency
- Pseudocholinesterase E1
- Pseudodiastrophic dwarfism
- Pseudodiastrophic dysplasia
- Pseudodiplomyelia
- Pseudoglioma
- Pseudoglioma with bone fragility
- Pseudoglycogenosis 2
- Pseudogout, familial
- Pseudohermaphrodism anorectal anomalies
- Pseudohermaphroditism, nephron disorder and Wilms' tumor
- Pseudo-Hurler polydystrophy
- Pseudohyperkalemia Cardiff
- Pseudohypoaldosteronism type 1 autosomal dominant
- Pseudohypoaldosteronism type 1 autosomal recessive
- Pseudohypoaldosteronism type 1, dominant
- Pseudohypoaldosteronism type 1, recessive
- 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
- Pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis syndrome
- Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis
- Pseudomonas stutzeri infections
- Pseudo-Morquio syndrome type 2
- Pseudomyotonia
- Pseudomyxoma peritonei
- Pseudoneonatal adrenoleukodystrophy
- Pseudo-neonatal adrenoleukodystrophy
- Pseudoobstruction chronic idiopathic intestinal neuronal type
- Pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities
- Pseudoobstruction idiopathic intestinal
- Pseudopapilledema blepharophimosis hand anomalies
- Pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies
- Pseudopelade of Brocq
- Pseudo-pelade of Brocq
- Pseudo-Phlorizin diabetes
- Pseudopolycythaemia
- Pseudopolycythemia
- Pseudoprogeria syndrome
- Pseudopseudohypoparathyroidism
- Pseudopseudo-Hypoparathyroidism
- Pseudo-Pseudohypoparathyroidism
- Pseudorheumatoid dysplasia progressive, with hypoplastic toes
- Pseudosciatica
- Pseudoseizures
- Pseudoterranova infection
- Pseudothalidomide syndrome
- Pseudo-TORCH syndrome
- Pseudotoxoplasmosis syndrome
- Pseudotrisomy 13 syndrome
- Pseudotumor cerebri
- Pseudo-Turner syndrome
- Pseudo-Ullrich-Turner syndrome
- Pseudovaginal perineoscrotal hypospadias
- Pseudo-Von Willebrand disease
- Pseudoxanthoma elasticum
- Pseudoxanthoma elasticum, forme fruste
- PSIS
- Psittacosis
- Psoriasis- not a rare disease.
- Psoriasis 14, pustular
- Psoriasis guttate
- Psoriasis-related JIA
- Psoriasis-related juvenile idiopathic arthritis
- Psoriatic juvenile idiopathic arthritis
- PSP
- PSPUMP
- PSS
- PSS
- PSVS
- Psychogenic nonepileptic seizures
- Psychogenic purpura
- Psychogenic seizures
- Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
- PTA deficiency
- PTC syndrome
- PTCD
- PTEN hamartoma tumor syndrome
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects
- Pterygia mental retardation facial dysmorphism
- Pterygium antecubital
- Pterygium colli mental retardation digital anomalies
- Pterygium colli syndrome
- Pterygium of the conjunctiva and cornea
- Pterygium popliteal lethal type
- Pterygium syndrome
- Pterygium syndrome multiple lethal type
- Pterygium syndrome multiple X-linked
- Pterygium universale
- PTGC
- PTGS DEFICIENCY
- PTLAH
- PTLD
- PTLS
- PTND
- Ptosis strabismus ectopic pupils
- Ptosis vocal cord paralysis
- Ptosis, ectropion, thin skin, beaked nose
- Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism
- PTR
- PTS Deficiency
- Pubertas Praecox
- Puberty-induced gigantomastia (subtype)
- Pudendal Neuralgia
- Puertorican infant hypotonia syndrome
- PUJO
- Pulmonar arteriovenous aneurysm
- Pulmonary agenesis
- Pulmonary agenesis microphthalmi and diaphragmatic defect
- Pulmonary aluminosis
- Pulmonary alveolar lipoproteinosis acquired
- Pulmonary alveolar microlithiasis
- Pulmonary alveolar proteinosis acquired
- Pulmonary alveolar proteinosis autoimmune
- Pulmonary alveolar proteinosis, congenital
- Pulmonary aortic stenosis obstructive uropathy
- Pulmonary aplasia and triphalangia of the thumb
- Pulmonary arterial hypertension
- Pulmonary arterio-veinous fistula
- Pulmonary arteriovenous fistula
- Pulmonary arteriovenous fistula
- Pulmonary arteriovenous malformation
- Pulmonary artery agenesis
- Pulmonary artery coming from the aorta
- Pulmonary artery familial dilatation
- Pulmonary artery, isolated unilateral absence of
- Pulmonary atresia with intact ventricular septum
- Pulmonary atresia with ventricular septal defect
- Pulmonary AVM
- Pulmonary blastoma
- Pulmonary cystic lymphangiectasis
- Pulmonary dysmaturity syndrome
- Pulmonary edema of mountaineers
- Pulmonary fibrosis - from asbestos exposure
- Pulmonary hemosiderosis
- Pulmonary hyalinizing granuloma
- Pulmonary hypertension, familial persistent of the newborn
- Pulmonary hypoplasia, familial primary
- Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia
- Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
- Pulmonary infiltrates with eosinophilia
- Pulmonary non-tuberculous mycobacterial infection
- Pulmonary renal syndrome
- Pulmonary sequestration
- Pulmonary supravalvular stenosis
- Pulmonary surfactant protein B, deficiency of
- Pulmonary valve stenosis
- Pulmonary valves agenesis
- Pulmonary vein stenosis
- Pulmonary veins stenosis
- Pulmonary venoocclusive disease
- Pulmonary venous return anomaly
- Pulmonic stenosis
- Pulmonic stenosis brachytelephalangism and calcification of cartilages
- Pulp stones
- Pulpal dysplasia
- Pulseless disease
- Punctate inner choroiditis
- Punctate inner choroidopathy
- Punctate palmoplantar hyperkeratosis type 2
- Punctate palmoplantar keratoderma type 1
- Punctate palmoplantar keratoderma type 2
- Punctate palmoplantar keratoderma type I
- Punctate palmoplantar keratoderma with or without ectopic calcification
- Punctate porokeratosis
- PUPPP
- PURA syndrome
- PURA-related neurodevelopmental disorder
- Pure autonomic failure
- Pure red cell aplasia
- Puretic syndrome
- Purine nucleoside phosphorylase deficiency
- Purpura simplex- not a rare disease.
- Purpura, Schonlein-Henoch
- Purpura, thrombotic thrombocytopenic
- Purtilo syndrome
- Pustular psoriasis
- Pustulosis palmaris et plantaris
- Pustulosis subcornealis
- PV
- PVL
- PVNH
- PVNH1
- PVOD
- PWS
- PWS due to a point mutation
- PWS due to point mutation
- PXA
- PXE
- PYCD
- Pycnodysostosis
- PYGM deficiency
- PYKL
- Pyknoachondrogenesis
- Pyknodysostosis
- Pyle disease
- Pyle's disease
- Pyoderma gangrenosum
- Pyogenic arthritis, pyoderma gangrenosum and acne
- Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
- Pyogenic bacterial infections due to 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
- Pyridoxine deficiency
- Pyridoxine dependency
- Pyridoxine dependency with seizures
- Pyridoxine refractory sideroblastic anemia
- Pyridoxine-5'-phosphate oxidase deficiency
- Pyridoxine-dependent epilepsy
- Pyridoxine-responsive sideroblastic anemia
- Pyriformis syndrome
- Pyroglutamic aciduria
- Pyroglutamicaciduria
- Pyropoikilocytosis hereditary
- Pyruvate carboxylase deficiency
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase E3 deficiency
- Pyruvate dehydrogenase lipoic acid synthetase deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate kinase deficiency
- Pyruvate kinase deficiency of erythrocytes
- Pyruvate kinase deficiency of red cells
- Pyruvate kinase deficiency, liver type
- Pythiosis
- Pythium insidiosum infection
NIH genetic and rare disease info[edit]
List of rare diseases-P is a rare disease.
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Rare diseases - List of rare diseases-P
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