List of rare diseases-P

NIH genetic and rare disease info

• NIH info on List of rare diseases-P

List of rare diseases-P is a rare disease.

• 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

• NIH info on List of rare diseases-P

List of rare diseases-P is a rare disease.