Wikicure Wiki

■P2Y12 deficiency
■Pachygyria - epilepsy - intellectual deficit - dysmorphism
■Pachygyria - intellectual deficit - epilepsy
■Pachyonychia congenita
■Pachyonychia congenita, Jackson-Lawler type
■Pachyonychia congenita, Jadassohn-Lewandowsky type
■Pacman dysplasia
■Pagetoid amyotrophic lateral sclerosis
■Pagetoid neuroskeletal syndrome
■Pagetoid reticulosis, Woringer-Kolopp type
■Paget's disease of the nipple
■PAGOD syndrome
■Pagon-Stephan syndrome
■Painful bladder syndrome
■Painful congenital myotonia
■Painful myotonia
■Painful ophthalmoplegia
■Pai syndrome
■Palatodigital syndrome, type Catel-Manzke
■Pallidopyramidal syndrome
■Pallister-Hall syndrome
■Pallister-Killian syndrome
■Pallister-W syndrome
■Palmer-Pagon syndrome
■Palmoplantar hyperkeratosis - deafness
■Palmoplantar hyperkeratosis - hearing loss
■Palmoplantar keratoderma - amyotrophy
■Palmoplantar keratoderma and congenital alopecia, Stevanovic type
■Palmoplantar keratoderma and congenital alopecia, Wallis type
■Palmoplantar keratoderma - deafness
■Palmoplantar keratoderma - hearing loss
■Palmoplantar keratoderma - sclerodactyly
■Palmoplantar keratoderma - spastic paralysis
■Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
■Palmoplantar keratosis, focal and gingival
■Palmoplantar porokeratosis of Mantoux
■Palmoplantar punctate keratoderma type 1
■Palmoplantar punctate keratoderma type 2
■Palmoplantar pustulosis
■Panayiotopoulos syndrome
■Pancreatic adenoma
■Pancreatic and cerebellar agenesis
■Pancreatic beta cell agenesis with neonatal diabetes mellitus
■Pancreatic cancer
■Pancreatic carcinoma
■Pancreatic endocrine tumor
■Pancreatic hypoplasia - diabetes - heart disease
■Pancreatic insufficiency - anemia - hyperostosis
■Pancreatic polypeptidoma
■Panner disease
■PAN, pediatric onset
■Pantothenate-kinase-associated neurodegeneration
■PAPA syndrome
■Papillary carcinoma of the cervix uteri
■Papillary carcinoma of the corpus uteri
■Papillary fibroelastoma of the heart
■Papillary glioneuronal tumor
■Papillary or follicular thyroid carcinoma
■Papillary thyroid carcinoma with renal papillary neoplasia
■Papillary tumour of the pineal region
■Papilloma of choroid plexus
■Papillon-Leage-Psaume syndrome
■Papillon-Lefèvre syndrome
■Papillo-renal syndrome
■Papular atrichia
■Papular elastorrhexis
■Papular mucinosis of infancy
■Papular xanthoma
■Parachute tricuspid valve
■Paradoxical fasting hyperammonemia
■Paraganglioma and gastric stromal sarcoma
■Paramedian nasal cleft
■Paramyotonia congenita
■Paramyotonia congenita of Von Eulenburg
■Parana hard-skin syndrome
■Paraneoplastic Cushing syndrome
■Paraneoplastic pemphigus
■Paraneoplastic retinopathy
■Paraparetic variant of GBS
■Paraparetic variant of Guillain-Barré syndrome
■Paraplegia - brachydactyly - cone-shaped epiphysis
■Paraplegia - intellectual deficit - hyperkeratosis
■Paraquat poisoning
■Parastremmatic dwarfism
■Parathyroid carcinoma
■PARC syndrome
■Parietal encephalocele
■Parietal foramina
■Parietal foramina with cleidocranial dysostosis
■Parietal foramina with cleidocranial dysplasia
■Paris-Trousseau thrombocytopenia
■Parkes-Weber syndrome
■Parkinsonian-pyramidal syndrome
■Parkinsonism-dementia-ALS complex
■Parkinsonism with dementia of Guadeloupe
■Paroxysmal cold hemoglobinuria
■Paroxysmal dyskinesia
■Paroxysmal exertion-induced dyskinesia
■Paroxysmal extreme pain disorder
■Paroxysmal hemicrania
■Paroxysmal hypnogenic dyskinesia
■Paroxysmal kinesigenic dyskinesia
■Paroxysmal nocturnal hemoglobinuria
■Paroxysmal non-kinesigenic dyskinesia
■Paroxysmal ventricular fibrillation
■Parry-Romberg syndrome
■Parsonage-Turner syndrome
■Partial acquired lipodystrophy
■Partial albinism - immunodeficiency
■Partial androgen insensitivity syndrome
■Partial androgen resistance syndrome
■Partial atrioventricular canal
■Partial chromosome Y deletion
■Partial congenital cataract
■Partial cryptophthalmia
■Partial deep dermal and full thickness burns
■Partial deletion 11q
■Partial epilepsy with auditory aura
■Partial epilepsy with auditory features
■Partial facial palsy with urinary abnormalities
■Partial gigantism - nevi - hemihypertrophy - macrocephaly
■Partial LCAT deficiency
■Partial mevalonate kinase deficiency with recurrent fever +/- hyperIgD
■Partial molar pregnancy
■Partial pancreas agenesis
■Partial prune belly syndrome
■Partial situs inversus
■Partial unilateral facial paresis
■Partington amyloidosis
■Partington-Anderson syndrome
■Partington disease
■Partington-Mulley syndrome
■Partington syndrome
■Parvovirus antenatal infection
■Pascual-Castroviejo syndrome type 1
■Pascual-Castroviejo syndrome type 2
■Pashayan syndrome
■Passwell-Goodman-Siprkowski syndrome
■Patau syndrome
■Patella aplasia - coxa vara - tarsal synostosis
■Patellofemoral syndrome
■Patent arterial duct
■Patent arterial duct - bicuspid aortic valve - hand anomalies
■Patent ductus arteriosus
■Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
■Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
■Patent foramen ovale
■Paternal 14q32.2 hypomethylation syndrome
■Paternal 14q32.2 microdeletion syndrome
■Paternal 20q13.2q13.3 microdeletion syndrome
■Paternal 20q13.2-q13.3 microdeletion syndrome
■Paternal del (14)(q32.2)
■Paternal del(20)(q13.2q13.3)
■Paternal monosomy 14q32.2
■Paternal monosomy 20q13.2q13.3
■Paternal monosomy 20q13.2-q13.3
■Paternal uniparental disomy of chromosome 1
■Paternal uniparental disomy of chromosome 13
■Paternal uniparental disomy of chromosome 14
■Paternal uniparental disomy of chromosome 20
■Paternal uniparental disomy of chromosome 21
■Paternal uniparental disomy of chromosome 5
■Paternal uniparental disomy of chromosome 6
■Paternal uniparental disomy of chromosome 7
■Paternal uniparental disomy of chromosome X
■Patterson-Stevenson-Fontaine syndrome
■Patterson-Stevenson syndrome
■Pauciarticular chronic arthritis
■Pauciarticular chronic arthritis with anti-nuclear antibodies
■Pauciarticular chronic arthritis without anti-nuclear antibodies
■Pauci-immune glomerulonephritis
■Pauci-immune glomerulonephritis with ANCA
■Pauci-immune glomerulonephritis without ANCA
■PCB variant of GBS
■PCB variant of Guillain-Barré syndrome
■PCH with optic atrophy
■PCH without dyskinesia
■PCI deficiency
■PDH phosphatase deficiency
■Pearson syndrome
■Pectus excavatum - macrocephaly - dysplastic nails
■Pediatric Autoimmune Disorders Associated with Streptococcus infections
■Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infections
■Pediatric Behcet disease
■Pediatric Castleman disease
■Pediatric familial mediterranean fever
■Pediatric-onset Wegener granulomatosis
■Pediatric periodic disease
■Pediatric polyarteritis nodosa
■Pediatric Sjögren syndrome
■Pediatric systemic lupus erythematosus
■Pediatric systemic scleroderma
■Pediatric systemic sclerosis
■Peeling skin syndrome
■PEHO-like syndrome
■PEHO syndrome
■Pelizaeus-Merzbacher brain sclerosis
■Pelizaeus-Merzbacher disease
■Pelizaeus-Merzbacher disease, classic form
■Pelizaeus-Merzbacher disease, connatal form
■Pelizaeus-Merzbacher disease in female carriers
■Pelizaeus-Merzbacher disease, null syndrome
■Pelizaeus-Merzbacher disease, transitional form
■Pelizaeus-Merzbacher-like due to AIMP1 mutation
■Pelizaeus-Merzbacher-like due to GJC2 mutation
■Pelizaeus-Merzbacher-like due to HSPD1 mutation
■Pelizaeus-Merzbacher-like due to SLC16A2 mutation
■Pellagra-like skin rash - neurological manifestations
■Pellucid marginal degeneration
■Pelvic dysplasia - arthrogryposis of lower limbs
■Pelviscapular dysplasia
■Pelvis-shoulder dysplasia
■PELVIS syndrome
■Pemphigoid gestationis
■Pemphigus erythematosus
■Pemphigus foliaceus
■pemphigus seborrheic
■Pemphigus vegetans
■Pemphigus vulgaris
■Pena-Shokeir syndrome type 1
■Pena-Shokeir syndrome type 2
■Pendred syndrome
■Penis agenesis
■Penoscrotal transposition
■Pentasomy X
■PEPCK1 deficiency
■PEPCK2 deficiency
■PEPCK deficiency
■Perheentupa syndrome
■Periarteritis nodosa
■Pericardial and diaphragmatic defect
■Pericardial constriction - growth failure
■Pericarditis - arthropathy - camptodactyly
■Perinatal asphyxia
■Perinatal hypoxia
■Perinatal-lethal Gaucher disease
■Perinatal lethal hypophosphatasia
■Perinatal lethal phosphoethanolaminuria
■Perinatal lethal Rathburn disease
■Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus
■Periodic disease
■Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome
■Periodic paralysis type 3
■Periodic vestibulocerebellar ataxia
■Perioral myoclonia with absences
■Peripartum cardiomyopathy
■Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
■Peripheral dysostosis
■Peripheral fibroblastoma
■Peripheral motor neuropathy - dysautonomia
■Peripheral neuroectodermal cancer of the cervix uteri
■Peripheral neuroectodermal cancer of the corpus uteri
■Peripheral neuropathy and optic atrophy
■Peripheral neuropathy, Fiskerstrand type
■Peripheral precocious puberty
■Peripheral resistance to thyroid hormones
■Peritoneal cystic mesothelioma
■Peritumoral edema derived from brain tumors
■Periventricular leukomalacia
■Periventricular nodular heterotopia
■Perlman syndrome
■Permanent neonatal diabetes mellitus
■Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
■Perniola-Krajewska-Carnevale syndrome
■Peroxisomal acyl-CoA oxidase deficiency
■Peroxisomal alanine-glyoxylate aminotransferase deficiency
■Perrault syndrome
■Perry syndrome
■Persistent eustachian valve
■Persistent fetal vasculature syndrome
■Persistent fifth aortic arch
■Persistent hyperplastic primary vitreous
■Persistent left superior caval vein connecting to the left-sided atrium
■Persistent left superior vena cava connecting to the left-sided atrium
■Persistent left SVC connecting to the left-sided atrium
■Persistent Mullerian derivatives
■Persistent Mullerian duct syndrome
■Persistent patency of the arterial duct
■Persistent placoid maculopathy
■Perthes disease
■Peters anomaly
■Peters anomaly - cataract
■Peters anomaly with short limb dwarfism
■Peters congenital glaucoma
■Peters-plus syndrome
■Petges-Clejat syndrome
■Petit-Fryns syndrome
■Petty-Laxova-Wiedemann syndrome
■Peutz-Jeghers syndrome
■PFAPA syndrome
■Pfeiffer-Kapferer syndrome
■Pfeiffer-Mayer syndrome
■Pfeiffer-Palm-Teller syndrome
■Pfeiffer-Singer-Zschiesche syndrome
■Pfeiffer syndrome
■Pfeiffer syndrome type 1
■Pfeiffer syndrome type 2
■Pfeiffer syndrome type 3
■Pfeiffer-Weber-Christian syndrome
■PHACE syndrome
■Phaco-anaphylactic uveitis
■Phako-anaphylactic uveitis
■Phakomatosis cesioflammea
■Phakomatosis cesiomarmorata
■Phakomatosis pigmentokeratotica
■Phakomatosis pigmentovascularis
■Phakomatosis pigmentovascularis type 2
■Phakomatosis pigmentovascularis type 3
■Phakomatosis pigmentovascularis type 5
■Phakomatosis spilorosea
■Phantom bone disease
■Pharmacogenetic myopathy of anesthesia
■Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
■Pharyngeal-cervical-brachial weakness
■Pharyngo-cervico-brachial variant of GBS
■Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
■PHA type 1
■Phaver syndrome
■PHD syndrome
■Phelan-McDermid syndrome
■Phenobarbital antenatal infection
■Phenobarbital embryopathy
■Phenotypic diarrhea
■Phenylalanine hydroxylase partial deficiency
■Phenylalanine hydroxylase total deficiency
■Phenylketonuria type 2
■Phenylketonuric embryopathy
■Phenytoin embryofetopathy
■Phocomelia - ectrodactyly - deafness - sinus arrhythmia
■Phocomelia, Schinzel type
■Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
■Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
■Phosphoenolpyruvate carboxykinase 1 deficiency
■Phosphoenolpyruvate carboxykinase 2 deficiency
■Phosphoenolpyruvate carboxykinase deficiency
■Phosphoglucomutase 1 deficiency
■Phosphoglucomutase deficiency
■Phosphoglycerate kinase 1 deficiency
■Phosphoribosylpyrophosphate synthetase superactivity
■Phosphoserine aminotransferase deficiency
■Phyllode tumor
■Phylloide tumor
■Phytanic acid oxidase deficiency
■PIBIDS syndrome
■Piccardi-Lassueur-Little syndrome
■Pick disease of brain
■Piebald trait - neurologic defects
■Pierre Robin sequence - congenital heart defect - talipes
■Pierre Robin sequence - faciodigital anomaly
■Pierre Robin sequence - fetal chondrodysplasia
■Pierre robin sequence - hyperphalangy - clinodactyly
■Pierre Robin sequence - oligodactyly
■Pierre Robin syndrome - congenital heart defect - talipes
■Pierre Robin syndrome - faciodigital anomaly
■Pierre Robin syndrome - fetal chondrodysplasia
■Pierre robin syndrome - hyperphalangy - clinodactyly
■Pierson syndrome
■Pigeon-breeder's lung disease
■Pigment anomaly - ectrodactyly - hypodontia
■Pigmentary disorder with hearing loss
■Pigmentary hairy epidermal nevus
■Pigmentary mosaicism, Ito type
■Pigmentary retinopathy - intellectual deficit
■Pigment-dispersion syndrome
■Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
■Pigmented paravenous retinochoroidal atrophy
■Pigmented villonodular synovitis
■Pili annulati
■Pili bifurcati
■Pili canulati
■Pili multibifurcati
■Pili multigemini
■Pili torti
■Pili torti - developmental delay - neurological abnormalities
■Pili torti - onychodysplasia
■Pili trianguli et canaliculi
■Pillay syndrome
■Pilocytic astrocytoma
■Pilodental dysplasia - refractive errors
■Pilomyxoid astrocytoma
■Pilotto syndrome
■Pineal parenchymal tumor of intermediate differenciation
■Pinheiro-Freire Maia-Miranda syndrome
■Pink disease
■Pinsky-Di George-Harley syndrome
■Pipecolic acidemia
■Pitt-Hopkins-like syndrome
Pitt-Hopkins Syndrome

■Pitt-Rogers-Danks syndrome
■Pitt-Williams brachydactyly
■Pituitary apoplexy
■Pituitary deficiency due to empty sella turcica syndrome
■Pituitary deficiency due to Rathke's pouch cysts
■Pituitary dermoid and epidermoid cysts
■Pituitary gonadotrophic adenoma
■Pituitary lactotrophic adenoma
■Pituitary stalk interruption syndrome
■Pituitary thyrotrophic adenoma
■Pityriasis rubra pilaris
■Piussan-Lenaerts-Mathieu syndrome
■PKAN, atypical form
■PKAN, classic form
■PKU type 2
■PLA2G6-associated neurodegeneration
■Placental site trophoblastic tumor
■Plantar fibromatosis
■Plantar flexion contracture
■Plasma thromboplastin antecedent deficiency
■Plasminogen deficiency type 1
■Platelet alpha-granule deficiency
■Platinum oculocutaneous albinism
■Platyspondylic dysplasia, Torrance-Luton type
■Platyspondylic dysplasia, Torrance type
■Platyspondylic lethal chondrodysplasia
■Platyspondylic lethal skeletal dysplasia, Torrance type
■Platyspondyly - amelogenesis imperfecta
■Pleomorphic liposarcoma
■Pleomorphic xanthoastrocytoma
■Pleuro-pericardial cyst
■Pleuropulmonary blastoma
■Pleuro-pulmonary blastoma
■Pleuro-pulmonary blastoma type I
■Pleuro-pulmonary blastoma type II
■Pleuro-pulmonary blastoma type III
■Plott syndrome
■PLP1 null syndrome
■Plummer-Vinson syndrome
■Plum syndrome
■Pneumococcal meningitis
■Pneumonia caused by serotype O11 Pseudomonas Aeruginosa
■Pneumonia caused by serotype O1 Pseudomonas Aeruginosa
■PNP deficiency
■PNPO deficiency
■PNPO-related neonatal epileptic encephalopathy
■POEMS syndrome
■Poikiloderma - alopecia - retrognathism - cleft palate
■Poikiloderma of Kindler
■Poikiloderma of Rothmund-Thomson
■Poikiloderma of Rothmund-Thomson type 1
■Poikiloderma of Rothmund-Thomson type 2
■Poikilodermatomyositis, Petges-Jacobi type
■Poikiloderma with neutropenia
■Poikiloderma with neutropenia, Clericuzio type
■Pokkuri death syndrome
■Poland anomaly
■Poland sequence
■Poland syndrome
■Pollitt syndrome
■Polyarteritis enterica
■Polyarteritis nodosa
■Polyarthritis without rheumatoid factor
■Polyarthritis without rheumatoid factor with anti-nuclear antibodies
■Polyarthritis without rheumatoid factor without anti-nuclear antibodies
■Polyarthritis with rheumatoid factor
■Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy
■Polycystic liver disease
■Polycystic ovaries - urethral sphincter dysfunction
■Polycythemia rubra vera
■Polycythemia vera
■Polydactyly alopecia seborrheic dermatitis
■Polydactyly - cleft lip/palate - psychomotor retardation
■Polydactyly-myopia syndrome
■Polydactyly of an index finger
■Polydactyly of a triphalangeal thumb
■Polydactyly of the thumb
■Polydactyly postaxial - dental and vertebral anomalies
■Polydactyly postaxial with median cleft of upper lip
■Polyepiphyseal dysplasia
■Polyepiphyseal dysplasia type 1
■Polyepiphyseal dysplasia type 4
■Polyepiphyseal dysplasia type 5
■Polymicrogyria - turricephaly - hypogenitalism
■Polymicrogyria with optic nerve hypoplasia
■Polymorphic eruption of pregnancy
■Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
■Polyneuropathy - Endocrinopathy - Plasma cell dyscrasia
■Polyneuropathy - hand defect
■Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
■Polyneuropathy - hepatosplenomegaly - hyperpigmentation
■Polyneuropathy - intellectual deficit - acromicria - premature menopause
■Polyostotic fibrous dysplasia
■Polypoid prolapsing folds
■Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
■Polysyndactyly - cardiac malformation
■Polysyndactyly, Haas type
■Polysyndactyly - microcephaly - ptosis
■Polysyndactyly-overgrowth syndrome
■Polyvalvular heart disease syndrome
■POMC deficiency
■Pompe disease
■Pontiac fever
■Pontine tegmental cap dysplasia
■Pontocerebellar hypoplasia type 1
■Pontocerebellar hypoplasia type 2
■Pontocerebellar hypoplasia type 3
■Pontocerebellar hypoplasia type 4
■Pontocerebellar hypoplasia type 5
■Pontocerebellar hypoplasia type 6
■Poorly differentiated endocrine carcinoma of the cervix uteri
■Poorly differentiated endocrine carcinoma of the corpus uteri
■Poorly differentiated endocrine carcinoma of the endometrium
■Poorly differentiated endocrine cervical carcinoma
■Poorly-differentiated thymic neuroendocrine carcinoma
■Popliteal web syndrome
■Poppema lymphoma
■Porak and Durante disease
■Porencephaly - cerebellar hypoplasia - internal malformations
■Porokeratosis of Mibelli
■Porokeratosis plantaris palmaris and disseminata
■Porokeratosis punctata palmaris et plantaris
■Porokeratotic eccrine nevus
■Porokeratotic eccrine ostial and dermal duct nevus
■Porphyria cutanea tarda
■Porphyria due to ALA dehydratase deficiency
■Porphyria due to delta-Aminolevulinate dehydratase
■Porphyria due to delta-aminolevulinate dehydratase (ALAD)
■Porphyria of Doss
■Porphyria variegata
■Portal hypertension due to infrahepatic block
■Portal vein thrombosis
■Port-wine nevi - mega cisterna magna - hydrocephalus
■Port-wine stains
■Postanginal sepsis secondary to orophyngeal infection
■Postaxial acrodysostosis
■Postaxial acrofacial dysostosis
■Postaxial polydactyly
■Postaxial polydactyly - intellectual deficit
■Postaxial polydactyly type A
■Postaxial polydactyly type B
■Postaxial syndactyly with metacarpal synostosis
■Postaxial tetramelic oligodactyly
■Postcardiotomy right ventricular failure
■Postencephalitic parkinsonism
■Posterior amorphous corneal dystrophy
■Posterior column ataxia - retinitis pigmentosa
■Posterior cortical atrophy
■Posterior fusion of lumbosacral vertebrae - blepharoptosis
■Posterior meningocele
■Posterior polar cataract
■Posterior polymorphous corneal dystrophy
■Posterior subcapsular cataract
■Posterior urethral valve
■Postlingual nonsyndromic genetic deafness
■Post-neonatal intracerebral hemorrhage
■Postorgasmic illness syndrome
■Postpartum cardiomyopathy
■Post-poliomyelitic syndrome
■Post-poliomyélitis sequelae
■Post-poliomyelitis syndrome
■Post-polio sequelae
■Post-polio syndrome
■Postsynaptic congenital myasthenic syndromes
■Post-transplant acute limbic encephalitis
■Post transplantation graft dysfunction
■Post-transplant lymphoproliferative disease
■Post-traumatic syringomyelia
■Potassium-aggravated myotonia
■Potassium-sensitive normokalemic periodic paralysis
■Potocki-Lupski syndrome
■Potocki-Shaffer syndrome
■Potter sequence - cleft lip/palate - cardiopathy
■Powell-Chandra-Saal syndrome
■Powell-Venencie-Gordon syndrome
■PPK-CA, Stevanovic type
■PPK-CA, Wallis type
■Prader-Labhart-Willi syndrome
■Prader-Willi habitus - osteopenia - camptodactyly
■Prader-Willi-like syndrome due to deletion 6q16
■Prader-Willi syndrome
■Prader-Willi syndrome due to imprinting mutation
■Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
■Prader-Willi syndrome due to paternal 15q11q13 deletion
■Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
■Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
■Prader-Willi syndrome due to translocation
■Prata-Liberal-Goncalves syndrome
■Preaxial acrodysostosis
■Preaxial deficiency - postaxial polydactyly - hypospadias
■Preaxial polydactyly
■Preaxial polydactyly - colobomata - intellectual deficit
■Precalicial canalicular ectasia
■Precursor B-cell acute lymphoblastic leukemia
■Precursor B-cell acute lymphoblastic leukemia/lymphoma
■Precursor B-cell acute lymphocytic leukemia
■Precursor B-cell acute lymphocytic leukemia/lymphoma
■Precursor T-cell acute lymphoblastic leukemia
■Precursor T-cell acute lymphoblastic leukemia/lymphoma
■Precursor T-cell acute lymphocytic leukemia
■Precursor T-cell acute lymphocytic leukemia/lymphoma
■Predisposition to invasive bacterial infections
■Preeyasombat-Varavithya syndrome
■Pregnancy-related cholestasis
■Prelingual nonsyndromic genetic deafness
■Premature chromosome condensation with microcephaly and intellectual deficit
■Premature closure of the arterial duct
■Premature closure of the patent ductus arteriosus
■Premature degenerative osteoarthropathy of the hip
■Prenatal benign hypophosphatasia
■Prenatal benign phosphoethanolaminuria
■Prenatal benign Rathburn disease
■Presynaptic congenital myasthenic syndromes
■Pretibial dystrophic epidermolysis bullosa
■Prieto-Badia-Mulas syndrome
■Prieur-Griscelli syndrome
■Primary achalasia
■Primary acquired sideroblastic anemia
■Primary Addison's disease
■Primary amyloidosis
■Primary anetoderma
■Primary angiitis of the central nervous system
■Primary antibody deficiency
■Primary basilar impression
■Primary biliary cirrhosis
■Primary brain lymphoma
■Primary calpainopathy
■Primary central nervous system lymphoma
■Primary ciliary dyskinesia
■Primary ciliary dyskinesia, Kartagener type
■Primary ciliary dyskinesia - retinitis pigmentosa
■Primary congenital erythrocytosis
■Primary cryoglobulinemia
■Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
■Primary cutaneous anaplastic large cell lymphoma
■Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
■Primary cutaneous diffuse large B-cell lymphoma, leg type
■Primary cutaneous follicle center lymphoma
■Primary cutaneous marginal zone B-cell lymphoma
■Primary dystonia, DYT13 type
■Primary dystonia, DYT2 type
■Primary dystonia, DYT4 type
■Primary dystonia, DYT6 type
■Primary dystonia with mixed phenotype
■Primary effusion lymphoma
■Primary erythermalgia
■Primary familial and congenital polycythemia
■Primary familial polycythemia
■Primary Fanconi renotubular syndrome
■Primary Fanconi syndrome
■Primary GH insensitivity
■Primary GH resistance
■Primary growth hormone insensitivity
■Primary growth hormone resistance
■Primary hypergonadotropic hypogonadism - partial alopecia
■Primary hyperkalemic periodic paralysis
■Primary hyperoxaluria type 1
■Primary hyperoxaluria type 2
■Primary hyperPP
■Primary hypogammaglobulinemia
■Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
■Primary immunodeficiency syndrome due to p14 deficiency
■Primary immunodeficiency syndrome with short stature
■Primary immunodeficiency with skin granulomas
■Primary insulin-like growth factor deficiency
■Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
■Primary intestinal lymphangiectasia
■Primary intraocular lymphoma
■Primary intraocular non-Hodgkin's lymphoma
■Primary intraosseous vascular malformation
■Primary laryngeal lymphangioma
■Primary lateral sclerosis
■Primary macular atrophy
■Primary malignant peritoneal mesothelioma
■Primary megaureter, adult-onset form
■Primary melanoma of the central nervous system
■Primary oculocerebral lymphoma
■Primary oculocerebral non-Hodgkin's lymphoma
■Primary orthostatic tremor
■Primary parathyroids hyperplasia
■Primary peritoneal carcinoma
■Primary peritoneal serous carcinoma
■Primary pigmented nodular adrenocortical disease
■Primary plasmacytoma of the bone
■Primary progressive aphasia
■Primary progressive freezing gait
■Primary pulmonary hemosiderosis
■Primary pulmonary lymphoma
■Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
■Primary sclerosing cholangitis
■Primary syringomyelia
■Primary syringomyelia/hydromyelia
■Primary systemic amyloidosis
■Primary T cell immunodeficiency
■Primary tethered chord syndrome
■Primary tethered spinal cord syndrome
■Primary thymic epithelial neoplasm
■Primary thymic epithelial neoplasm type A
■Primary thymic epithelial neoplasm type AB
■Primary thymic epithelial neoplasm type B
■Primary thymic epithelial tumor
■Primary thymic epithelial tumor type A
■Primary thymic epithelial tumor type AB
■Primary thymic epithelial tumor type B
■Primary torsion dystonia with predominant craniocervical or upper limb onset
■Primary unilateral adrenal hyperplasia
■Primary vasculitis of the central nervous system
■Primerose syndrome
■Primitive anophthalmia
■Primordial microcephalic dwarfism, Crachami type
■Primordial short stature - microdontia - opalescent and rootless teeth
■Proaccelerin deficiency
■Proboscis lateralis
■Progeria - short stature - pigmented nevi
■Progeroid syndrome, De Barsy type
■Progeroid syndrome, Petty type
■Progressiva symmetrica erythrokeratodermia
■Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly
■Progressive bifocal chorioretinal atrophy
■Progressive bulbar paralysis of childhood
■Progressive cavitating leukoencephalopathy
■Progressive cephalothoracic lipodystrophy
■Progressive cerebello-cerebral atrophy
■Progressive cone dystrophy
■Progressive cutaneous systemic scleroderma
■Progressive cutaneous systemic sclerosis
■Progressive deafness with stapes fixation
■Progressive demyelinating neuropathy with bilateral striatal necrosis
■Progressive diaphyseal dysplasia
■Progressive encephalopathy - optic atrophy
■Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
■Progressive epilepsy - intellectual deficit, Finnish type
■Progressive external ophthalmoplegia
■Progressive external ophthalmoplegia and scoliosis
■Progressive familial intrahepatic cholestasis
■Progressive familial intrahepatic cholestasis type 1
■Progressive familial intrahepatic cholestasis type 2
■Progressive familial intrahepatic cholestasis type 3
■Progressive foveal dystrophy
■Progressive hemifacial atrophy
■Progressive massive osteolysis
■Progressive multifocal leukoencephalitis
■Progressive multifocal leukoencephalopathy
■Progressive myoclonic epilepsy due to KCTD7 deficiency
■Progressive myoclonic epilepsy type 1
■Progressive myoclonic epilepsy type 2
■Progressive myoclonic epilepsy type 3
■Progressive myoclonic epilepsy type 6
■Progressive neurodegeneration - joint laxity - cataract
■Progressive neuronal degeneration of childhood with liver disease
■Progressive neurosensory deafness - hypertrophic cardiomyopathy
■Progressive neurosensory hearing loss - hypertrophic cardiomyopathy
■Progressive nodular histiocytosis
■Progressive non-fluent aphasia
■Progressive non-infectious anterior vertebral fusion
■Progressive osseous heteroplasia
■Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
■Progressive pseudorheumatoid arthropathy of childhood
■Progressive sensorineural deafness - hypertrophic cardiomyopathy
■Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
■Progressive supranuclear palsy - apraxia of speech
■Progressive supranuclear palsy - corticobasal syndrome
■Progressive supranuclear palsy - parkinsonism
■Progressive supranuclear palsy - progressive non fluent aphasia
■Progressive supranuclear palsy - pure akinesia with gait freezing
■Progressive symmetric erythrokeratodermia
■Prolidase deficiency
■Proliferating trichilemmal cyst
■Proliferative vasculopathy and hydranencephaly/hydrocephaly
■Proline oxidase deficiency
■Prolonged electroretinal response supression
■Prominent glabella - microcephaly - hypogenitalism
■Properdin deficiency
■Propionic acidemia
■Propionyl-CoA carboxylase deficiency
■Propping Zerres syndrome
■Protein defect of cystin transport
■Protein R deficiency
■Protein S acquired deficiency
■Proteus-like syndrome - intellectual deficit - eye defects
■Proteus syndrome
■Prothrombin deficiency
■Protoplasmic astrocytoma
■Proud-Levine-Carpenter syndrome
■Proximal 11p deletion syndrome
■Proximal focal femoral deficiency
■Proximal myotonic dystrophy
■Proximal myotonic myopathy
■Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit
■Proximal spinal muscular atrophy
■Proximal spinal muscular atrophy type 1
■Proximal spinal muscular atrophy type 2
■Proximal spinal muscular atrophy type 3
■Proximal spinal muscular atrophy type 4
■Proximal symphalangism
■Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
■Prune belly syndrome
■Pruriginous dystrophic epidermolysis bullosa
■Pruritic urticarial papules and plaques of pregnancy
■Pseudoachondroplastic dysplasia
■Pseudoachondroplastic spondyloepiphyseal dysplasia
■Pseudoaminopterin syndrome
■Pseudo-Angelman syndrome
■Pseudodiastrophic dysplasia
■Pseudohermaphroditism - intellectual deficit
■Pseudo-Hurler polydystrophy
■Pseudohyperaldosteronism type 1
■Pseudohyperaldosteronism type 2
■Pseudohypoaldosteronism type 1
■Pseudohypoaldosteronism type 2
■Pseudohypoaldosteronism type 2A
■Pseudohypoaldosteronism type 2B
■Pseudohypoaldosteronism type 2C
■Pseudohypoparathyroidism type 1A
■Pseudohypoparathyroidism type 1B
■Pseudohypoparathyroidism type 1C
■Pseudohypoparathyroidism type 2
■Pseudoleprechaunism syndrome, Patterson type
■Pseudo-Morquio syndrome type 2
■Pseudomyxoma peritonei
■Pseudo-neonatal adrenoleukodystrophy
■Pseudopapillary ganglioglioneurocytoma
■Pseudopapillary neurocytoma with glial differentiation
■Pseudopapilledema - blepharophimosis - hand anomalies
■Pseudo-pelade of Brocq
■Pseudoprogeria syndrome
■Pseudothalidomide syndrome
■Pseudo-TORCH syndrome
■Pseudotoxoplasmosis syndrome
■Pseudo-trisomy 13 syndrome
■Pseudotumor cerebri
■Pseudotyphus of California
■Pseudo unicornuate uterus
■Pseudo-Von Willebrand disease
■Pseudo-Von Willebrand disease type 2B
■Pseudoxanthoma elasticum
■Pseudoxanthoma elasticum-like papillary dermal elastocytosis
■Pseudoxanthoma elasticum-like syndrome
■Pseudoxanthoma-like late-onset focal dermal elastosis
■Pseudoxanthomatous DCM
■Pseudoxanthomatous diffuse cutaneous mastocytosis
■Pseudo-Zellweger syndrome
■PSP-corticobasal syndrome
■PSP-pure akinesia with gait freezing
■Psychogenic dystonia
■Psychogenic movement disorders
■Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
■PTA deficiency
■Pterygium colli - intellectual deficit - digital anomalies
■Pterygium of the conjunctiva, familial form
■Ptosis - strabismus - ectopic pupils
■Ptosis - strabismus - rectus abdominis diastasis
■Ptosis - syndactyly - learning difficulties
■Ptosis - upper ocular movement limitation - absence of lacrimal punctum
■Ptosis - vocal cord paralysis
■Pulmonar arteriovenous aneurysm
■Pulmonary agenesis
■Pulmonary alveolar microlithiasis
■Pulmonary aortic stenosis obstructive uropathy
■Pulmonary arterial hypertension - leukopenia - atrial septal defect
■Pulmonary arteriovenous fistula
■Pulmonary artery coming from patent ductus arteriosus
■Pulmonary artery coming from the aorta
■Pulmonary artery familial dilatation
■Pulmonary artery hypoplasia
■Pulmonary atresia - intact ventricular septum
■Pulmonary atresia with ventricular septal defect
■Pulmonary blastoma
■Pulmonary branch stenosis
■Pulmonary capillary hemangiomatosis
■Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia
■Pulmonary fungal infections in patients deemed at risk
■Pulmonary interstitial glycogenosis
■Pulmonary lymphangiomatosis
■Pulmonary nodular lymphoid hyperplasia
■Pulmonary pseudolymphoma
■Pulmonary valve agenesis
■Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus
■Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus
■Pulmonary vein atresia
■Pulmonary venoocclusive disease
■Pulmonic stenosis - brachytelephalangism - calcification of cartilages
■Pulmonic stenosis with 'cafe-au-lait' spots
■Pulpal dysplasia
■Pulp stones
■Pulverulent cataract
■Punch-drunk syndrome
■Pure aldosterone-producing adrenocortical carcinoma
■Pure aldosterone-secreting adrenocortical carcinoma
■Pure APAC
■Pure autonomic failure
■Pure cerebellar syndrome - mild pyramidal signs
■Pure dysautonomia
■Pure idiopatic dysotonomia
■Pure Joubert syndrome
■Pure mitochondrial myopathy
■Pure spastic paraplegia type 2
■Pure SPG2
■Puretic syndrome
■Purine nucleoside phosphorylase deficiency
■Purpura fulminans
■Purpura rheumatica
■Purtilo syndrome
■Pustulo-psoriatic hyperostotic spondylarthritis
■Pustulosis palmaris et plantaris
■Pustulosis subcornealis
■PVA/ADA, Fallot type
■PVA/PDA, non Fallot-type
■PXE-like late-onset focal dermal elastosis
■PXE-like papillary dermal elastocytosis
■PXE-like syndrome
■Pyle disease
■Pyoderma gangrenosum
■Pyogenic arthritis - pyoderma gangrenosum - acne
■Pyogenic bacterial infections due to MyD88 deficiency
■Pyramidal molar - glaucoma - upper abnormal lip
■Pyridoxal phosphate-responsive seizures
■Pyridoxamine 5´-oxidase deficiency
■Pyridoxamine 5'-phosphate oxidase deficiency
■Pyridoxa-phosphate dependent seizures
■Pyridoxine-dependent epilepsy
■Pyridoxine-responsive seizures
■Pyridoxine-responsive sideroblastic anemia
■Pyruvate carboxylase deficiency
■Pyruvate dehydrogenase complex component E2 deficiency
■Pyruvate dehydrogenase complex component E3 defieincy
■Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
■Pyruvate dehydrogenase complex E1 component subunit beta deficiency
■Pyruvate dehydrogenase deficiency
■Pyruvate dehydrogenase phosphatase deficiency
■Pyruvate dehydrogenase protein X component deficiency
■Pyruvate kinase deficiency of erythrocytes