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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With P

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency - See PASLI disease
* P450c11b1 deficiency - See 11-beta-hydroxylase deficiency
* PAC - See Gianotti Crosti syndrome
* PAC syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* PACC - See Partial agenesis of corpus callosum
* Pachydermoperiostosis
* Pachygyria
* Pachygyria joint contractures facial abnormalities - See Winter Harding Hyde syndrome
* Pachygyria with mental retardation and seizures
* Pachygyria, frontotemporal
* Pachygyria, mental retardation and epilepsy - See Pachygyria with mental retardation and seizures
* Pachyonychia congenita
* Pachyonychia congenita syndrome - See Pachyonychia congenita
* Pacman dysplasia
* Pacman syndrome - See Pacman dysplasia
* PACNS - See Primary angiitis of the central nervous system
* PAFD - See Acrofacial dysostosis Palagonia type
* Paget disease juvenile type - See Paget disease, juvenile
*   Paget disease of bone
* Paget disease of bone, familial
* Paget disease of the breast
* Paget disease, extramammary
* Paget disease, juvenile
* Pagetoid amyotrophic lateral sclerosis - See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
* Pagetoid neuroskeletal syndrome - See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
* Paget's disease of the nipple - See Paget disease of the breast
* Paget's disease, mammary - See Paget disease of the breast
* PAGOD syndrome
* Pagon Bird Detter syndrome - See Anemia sideroblastic and spinocerebellar ataxia
* Pagon Stephan syndrome
* Pagon syndrome - See Walker-Warburg syndrome
* PAH - See Pulmonary arterial hypertension
* Pahvant Valley plague - See Tularemia
* Pai syndrome - See Median cleft of upper lip with polyps of facial skin and nasal mucosa
* PAID syndrome - See Griscelli syndrome type 2
* Paine syndrome
*   Painful bladder syndrome - See Interstitial cystitis
* Painful bruising syndrome - See Gardner-Diamond syndrome
* Painful ophthalmoplegia - See Tolosa Hunt syndrome
* Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
* PAIS - See Partial androgen insensitivity syndrome
* Palagonia form of AFD - See Acrofacial dysostosis Palagonia type
* Palagonia type of acrofacial dysostosis - See Acrofacial dysostosis Palagonia type
* Palant cleft palate syndrome
* Palatodigital syndrome Catel-Manzke type - See Catel Manzke syndrome
* Palatopharyngeal incompetence
*   Palindromic rheumatism
*   Palindromic rheumatism syndrome - See Palindromic rheumatism
* Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia - See Parkinson disease type 9
* Pallido-pyramidal disease - See Pallidopyramidal syndrome
* Pallidopyramidal syndrome
* Pallister Hall syndrome - See Pallister-Hall syndrome
* Pallister Killian syndrome - See Pallister-Killian mosaic syndrome
* Pallister mosaic syndrome - See Pallister-Killian mosaic syndrome
* Pallister W syndrome
* Pallister-Hall syndrome
* Pallister-Killian mosaic syndrome
* Palmar/plantar melanoma - See Acral lentiginous melanoma
* Palmar-plantar hyperkeratosis and concomitant periodontal destruction - See Papillon Lefevre syndrome
* Palmer Pagon syndrome
* Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia - See Judge Misch Wright syndrome
* Palmoplantar hyperkeratosis and alopecia - See Patel Bixler syndrome
* Palmoplantar keratoderma
* Palmoplantar keratoderma and sensorineural deafness - See Keratoderma palmoplantar deafness
* Palmoplantar keratoderma of Sybert
* Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair - See Cardiomyopathy dilated with woolly hair and keratoderma
* Palmoplantar keratoderma with periodontosis - See Papillon Lefevre syndrome
* Palmoplantar keratoderma, Bothnian type - See Diffuse palmoplantar keratoderma, Bothnian type
* Palmoplantar keratoderma, epidermolytic
* Palmoplantar keratoderma, punctate type 3 - See Acrokeratoelastoidosis of Costa
* Palpebral coloboma lipoma Syndrome - See Nasopalpebral lipoma coloboma syndrome
* PAM - See Primary amebic meningoencephalitis
* PAN - See Polyarteritis nodosa
* Panbronchiolitis, diffuse - See Diffuse panbronchiolitis
* Pancreas accessorium - See Accessory pancreas
* Pancreas agenesis, dorsal - See Agenesis of the dorsal pancreas
* Pancreas, annular - See Annular pancreas
* Pancreas, dorsal, agenesis of - See Agenesis of the dorsal pancreas
* Pancreatic acinar carcinoma, childhood - See Pancreatic cancer, childhood
* Pancreatic adenoma
* Pancreatic agenesis
* Pancreatic agenesis, congenital - See Pancreatic agenesis
* Pancreatic beta cell agenesis with neonatal diabetes mellitus
* Pancreatic cancer
* Pancreatic cancer, childhood
* Pancreatic carcinoma, childhood - See Pancreatic cancer, childhood
* Pancreatic carcinoma, familial
* Pancreatic cholera - See WDHA syndrome
* Pancreatic insufficiency and bone marrow dysfunction - See Shwachman-Diamond syndrome
* Pancreatic islet cell tumors
* Pancreatic lipomatosis and duodenal atresia - See Pancreatic lipomatosis duodenal stenosis
* Pancreatic lipomatosis duodenal stenosis
* Pancreatic ulcerogenic tumor syndrome - See Zollinger-Ellison syndrome
* Pancreatic VIPoma - See VIPoma
* Pancreatitis, pediatric
* Pancreatoblastoma
* Pancytopenia multiple congenital anomalies - See Sackey Sakati Aur syndrome
* PANDAS
* Panhypopituitarism X-linked
* Panniculitis nodular nonsuppurative - See Nodular nonsuppurative panniculitis
* Panostotic fibrous dysplasia
* Pantothenate kinase-associated neurodegeneration
* Panuveitis
* PAP - See Pulmonary alveolar proteinosis acquired
* PAP acquired - See Pulmonary alveolar proteinosis acquired
* PAPA syndrome - See Pyogenic arthritis, pyoderma gangrenosum and acne
* PAPAS - See Pyogenic arthritis, pyoderma gangrenosum and acne
* Papillary cystadenocarcinoma
* Papillary cystadenoma lymphomatosum (formerly) - See Warthin tumor
* Papillary eccrine adenoma
* Papillary ependymoma (histologic variant) - See Ependymoma
* Papillary renal carcinoma, malignant - (subtype) - See Papillary renal cell carcinoma
* Papillary renal cell carcinoma
* Papillary renal cell carcinoma, bilateral - (subtype) - See Papillary renal cell carcinoma
* Papillary renal cell carcinoma, familial - (subtype) - See Papillary renal cell carcinoma
* Papillary renal cell carcinoma, multiple - (subtype) - See Papillary renal cell carcinoma
* Papillary renal cell carcinoma, sporadic - (subtype) - See Papillary renal cell carcinoma
* Papillary thyroid carcinoma
* Papilledema
* Papilloma of choroid plexus - See Choroid plexus papilloma
* Papillomatosis florid of nipple - See Florid papillomatosis of the nipple
* Papillon Lefevre syndrome
* Papillon-League-Psaume syndrome (formerly) - See Orofaciodigital syndrome 1
* Papillorenal syndrome - See Renal coloboma syndrome
* PAPS-chondroitin sulfate sulfotransferase deficiency - See Spondyloepiphyseal dysplasia tarda Toledo type
* Papular acrodermatitis of childhood - See Gianotti Crosti syndrome
* Papular mucinosis
* Papular urticaria
* Paracoccidioidal granuloma - See Paracoccidioidomycosis
* Paracoccidioidomycosis
* Parafoveal telangiectasis - See Idiopathic juxtafoveal retinal telangiectasia
* Paraganglioma - glomus jugulare - See Glomus jugulare tumors
* Paraganglioma and gastric stromal sarcoma
* Paraganglioma and gastrointestinal stromal tumor - See Paraganglioma and gastric stromal sarcoma
* Paraganglioma and GIST - See Paraganglioma and gastric stromal sarcoma
* Paraganglioma, familial malignant - See Paragangliomas 4
* Paragangliomas 1
* Paragangliomas 2
* Paragangliomas 3
* Paragangliomas 4
* Paragangliomas familial 1 - See Paragangliomas 1
* Paragangliomas, hereditary extraadrenal - See Paragangliomas 4
* Paragangliomata - See Paragangliomas 1
* Paragonimiasis
* Paragonimus westermani infection - See Paragonimiasis
* Parainfluenza virus type 3
*   Paralysis agitans - See Parkinson disease
* Paralysis agitans, juvenile, of Hunt
* Paralysis periodica paramyotonica - See Paramyotonia congenita
* Paramethadione syndrome - See German syndrome
* Paramyotonia congenita
* Paramyotonia congenita of Von Eulenburg - See Paramyotonia congenita
* Parana hard skin syndrome - See Hard skin syndrome Parana type
* Paranasal sinus cancer, adult
* Paranasal sinus cancer, childhood
* Paranasal sinus teratocarcinosarcoma (type) - See Malignant Teratocarcinosarcoma
* Paraneoplastic cerebellar degeneration
* Paraneoplastic Neurologic Disorders
* Paraomphalocele
* Parapemphigus - See Bullous pemphigoid
* Paraplegia
* Parapsoriasis
* Parapsoriasis en plaque - See Parapsoriasis
* Paraquat induced lung disease - See Paraquat lung
* Paraquat lung
* Parasitic infection caused by Dracunculus medinensis - See Dracunculiasis
* Parastremmatic dwarfism
* Parastremmatic dysplasia - See Parastremmatic dwarfism
* Parathyroid cancer - See Parathyroid carcinoma
* Parathyroid cancer, childhood
* Parathyroid carcinoma
* Parathyroid, underactivity of - See Hypoparathyroidism
* PARC syndrome
* Parchment right ventricle - See Uhl anomaly
* Parenchymatous cortical degeneration of cerebellum
* Paris-Trousseau syndrome - See Paris-Trousseau thrombocytopenia
* Paris-Trousseau thrombocytopenia
* Park 9 - See Parkinson disease type 9
* PARK2 - See Autosomal recessive juvenile Parkinson disease
* PARK3 - See Parkinson disease type 3
* Parkes Weber syndrome
*   Parkinson disease
* Parkinson disease 2 - See Autosomal recessive juvenile Parkinson disease
* Parkinson disease autosomal recessive, early onset - See Autosomal recessive juvenile Parkinson disease
* Parkinson disease type 3
* Parkinson disease type 9
* Parkinson disease, juvenile, of Hunt - See Paralysis agitans, juvenile, of Hunt
* Parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes - See Kifafa seizure disorder
* Parkinsonism with alveolar hypoventilation and mental depression - See Perry syndrome
* Parkinsonism, early onset with mental retardation
* Parkinsonism, early onset, with diurnal fluctuation - See Autosomal recessive juvenile Parkinson disease
* Parkinsonism, infantile, autosomal recessive - See Segawa syndrome, autosomal recessive
* Parkinsonism-dystonia infantile - See Infantile Parkinsonism-dystonia
*   Parkinson's disease - See Parkinson disease
* Paroxysmal cold hemoglobinuria
* Paroxysmal dystonic choreoathetosis - See Dystonia 8
* Paroxysmal exercise-induced dystonia - See Dystonia 18
* Paroxysmal exertion-induced dyskinesia - See Dystonia 18
* Paroxysmal familial ventricular fibrillation - See Paroxysmal ventricular fibrillation
* Paroxysmal hemicrania
* Paroxysmal kinesigenic choreoathetosis - See Dystonia 10
* Paroxysmal kinesigenic dyskinesia - See Dystonia 10
* Paroxysmal nocturnal hemoglobinuria
* Paroxysmal nonkinesigenic dyskinesia - See Dystonia 8
* Paroxysmal sleep - See Narcolepsy
* Paroxysmal ventricular fibrillation
* Parry disease - See Graves' disease
* Parry-Romberg syndrome - See Progressive hemifacial atrophy
* Pars planitis
* Parsonage Turner syndrome
* Partial 11q monosomy syndrome - See Jacobsen syndrome
* Partial agenesis of corpus callosum
* Partial agenesis of the dorsal pancreas - See Agenesis of the dorsal pancreas
* Partial albinism and immunodeficiency syndrome - See Griscelli syndrome type 2
* Partial albinism and primary neurologic disease without hemophagocytic syndrome - See Griscelli syndrome type 1
* Partial androgen insensitivity syndrome
* Partial atrioventricular canal
* Partial atrioventricular septal defects - See Partial atrioventricular canal
* Partial AVSD - See Partial atrioventricular canal
* Partial common atrioventricular canal - See Partial atrioventricular canal
* Partial deletion of chromosome Y - See Partial deletion of Y
* Partial deletion of the long arm of the Y chromosome - See Partial deletion of Y
* Partial deletion of Y
* Partial deletion of Y chromosome short arm - See Partial deletion of Y
* Partial facial palsy with urinary abnormalities - See Ochoa syndrome
* Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly - See Proteus syndrome
* Partial lipodystrophy with Rieger anomaly and short stature - See SHORT syndrome
* Partial lissencephaly
* Partial monosomy 10p - See Chromosome 10p deletion
* Partial monosomy 10q - See Chromosome 10q deletion
* Partial monosomy 11p - See Chromosome 11p deletion
* Partial monosomy 11q - See Chromosome 11q deletion
* Partial monosomy 12p - See Chromosome 12p deletion
* Partial monosomy 12q - See Chromosome 12q deletion
* Partial monosomy 14q - See Chromosome 14q deletion
* Partial monosomy 15q - See Chromosome 15q deletion
* Partial monosomy 16q - See Chromosome 16q deletion
* Partial monosomy 17p - See Chromosome 17p deletion
* Partial monosomy 17q - See Chromosome 17q deletion
* Partial monosomy 19p - See Chromosome 19p deletion
* Partial monosomy 19q - See Chromosome 19q deletion
* Partial monosomy 1p - See Chromosome 1p deletion
* Partial monosomy 1q - See Chromosome 1q deletion
* Partial monosomy 20p - See Chromosome 20p deletion
* Partial monosomy 20q - See Chromosome 20q deletion
* Partial monosomy 21q - See Chromosome 21q deletion
* Partial monosomy 22q - See Chromosome 22q deletion
* Partial monosomy 2p - See Chromosome 2p deletion
* Partial monosomy 2q - See Chromosome 2q deletion
* Partial monosomy 3p - See Chromosome 3p deletion
* Partial monosomy 3q - See Chromosome 3q deletion
* Partial monosomy 4p - See Chromosome 4p deletion
* Partial monosomy 4q - See Chromosome 4q deletion
* Partial monosomy 5p - See Chromosome 5p deletion
* Partial monosomy 5q - See Chromosome 5q deletion
* Partial monosomy 6p - See Chromosome 6p deletion
* Partial monosomy 6q - See Chromosome 6q deletion
* Partial monosomy 7p - See Chromosome 7p deletion
* Partial monosomy 7q - See Chromosome 7q deletion
* Partial monosomy 8p - See Chromosome 8p deletion
* Partial monosomy 8q - See Chromosome 8q deletion
* Partial monosomy 9p - See Chromosome 9p deletion
* Partial monosomy 9q - See Chromosome 9q deletion
* Partial monosomy Xp - See Chromosome Xp deletion
* Partial monosomy Xq - See Chromosome Xq deletion
* Partial paralysis, familial - See Familial partial paralysis
* Partial Pelger-Huet anomaly - See Pseudo Pelger-Huet anomaly
* Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation - See Currarino triad
* Partial trisomy 10p - See Chromosome 10p duplication
* Partial trisomy 10q - See Chromosome 10q duplication
* Partial trisomy 11q - See Chromosome 11q duplication
* Partial trisomy 12p - See Chromosome 12p duplication
* Partial trisomy 12q - See Chromosome 12q duplication
* Partial trisomy 13q - See Chromosome 13q duplication
* Partial trisomy 14q - See Chromosome 14q duplication
* Partial trisomy 15q - See Chromosome 15q duplication
* Partial trisomy 16p - See Chromosome 16p duplication
* Partial trisomy 16q - See Chromosome 16q duplication
* Partial trisomy 17p - See Chromosome 17p duplication
* Partial trisomy 17q - See Chromosome 17q duplication
* Partial trisomy 18p - See Chromosome 18p duplication
* Partial trisomy 19p - See Chromosome 19p duplication
* Partial trisomy 19q - See Chromosome 19q duplication
* Partial trisomy 1p - See Chromosome 1p duplication
* Partial trisomy 1q - See Chromosome 1q duplication
* Partial trisomy 20p - See Chromosome 20p duplication
* Partial trisomy 20q - See Chromosome 20q duplication
* Partial trisomy 21q - See Chromosome 21q duplication
* Partial trisomy 2p - See Chromosome 2p duplication
* Partial trisomy 2q - See Chromosome 2q duplication
* Partial trisomy 3p - See Chromosome 3p duplication
* Partial trisomy 4p - See Chromosome 4p duplication
* Partial trisomy 4q - See Chromosome 4q duplication
* Partial trisomy 5p - See Chromosome 5p duplication
* Partial trisomy 5q - See Chromosome 5q duplication
* Partial trisomy 6p - See Chromosome 6p duplication
* Partial trisomy 6q - See Chromosome 6q duplication
* Partial trisomy 7p - See Chromosome 7p duplication
* Partial trisomy 7q - See Chromosome 7q duplication
* Partial trisomy 8p - See Chromosome 8p duplication
* Partial trisomy 8q - See Chromosome 8q duplication
* Partial trisomy 9p - See Chromosome 9p duplication
* Partial trisomy 9q - See Chromosome 9q duplication
* Partial trisomy Xq - See Chromosome Xq duplication
* Partington Anderson syndrome
* Partington syndrome - See Partington X-linked mental retardation syndrome
* Partington X-linked mental retardation syndrome
* Parvovirus antenatal infection
* Parvovirus B19 antenatal infection - See Parvovirus antenatal infection
* PAS - See Gianotti Crosti syndrome
* PAS3 - See Autoimmune polyglandular syndrome type 3
* Pascual-Castroviejo syndrome - See Cerebro facio thoracic dysplasia
* Pascual-Castroviejo type II syndrome - See PHACE syndrome
*   PASH - See Pseudoangiomatous stromal hyperplasia
* Pashayan syndrome - See Blepharonasofacial malformation syndrome
* PASLI disease
* Passos-Bueno syndrome
* Passwell Goodman Ziprkowski syndrome - See Ichthyosis mental retardation dwarfism renal impairment
* Pasteurella multocida infection
* Patau syndrome - See Trisomy 13
*   Patchy alopecia - See Alopecia areata
* Patel Bixler syndrome
* Patella aplasia, coxa vara, tarsal synostosis - See Small patella syndrome
* Patella aplasia-hypoplasia - See Absent patella
* Patella hypoplasia mental retardation
* Patella hypoplasia skeletal malformations - See Sandhaus Ben-Ami syndrome
* Patency of the ductus arteriosus - See Patent ductus arteriosus
* Patent ductus arteriosus
* Patent ductus arteriosus familial (type) - See Patent ductus arteriosus
* Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits - See Char syndrome
* Patent ductus venosus
* Paternal uniparental disomy 13 - See Uniparental disomy of 13
* Paternal uniparental disomy 14 - See Uniparental disomy, paternal, chromosome 14
* Paternal uniparental disomy for chromosome 11(type) - See Uniparental disomy of chromosome 11
* Paterson’s syndrome - See Plummer Vinson syndrome
* Paterson-Brown-Kelly syndrome - See Plummer Vinson syndrome
* Paterson-Kelly syndrome - See Plummer Vinson syndrome
*   Pathological crying and laughing - See Pseudobulbar affect
* Patterned dystrophy of retinal pigment epithelium
* Patterson Lowry syndrome - See Rhizomelic dysplasia Patterson Lowry type
* Patterson pseudoleprechaunism syndrome
* Patterson Stevenson Fontaine syndrome - See Patterson Stevenson syndrome
* Patterson Stevenson syndrome
* Patterson-Lowry rhizomelic dysplasia - See Rhizomelic dysplasia Patterson Lowry type
* Patterson's leprechaunoid syndrome - See Patterson pseudoleprechaunism syndrome
*   Patulous Eustachian Tube
* Pauciarthritis, juvenile - See Pauciarticular onset juvenile idiopathic arthritis
* Pauciarticular chronic arthritis
* Pauciarticular onset juvenile idiopathic arthritis
* Paucity of interlobular bile ducts - See Alagille syndrome
* PAVM - See Pulmonary arteriovenous malformation
* Pavone Fiumara Rizzo syndrome - See Syndactyly type 1 with cataracts and mental retardation
* PBC - See Primary biliary cirrhosis
* PBCRA - See Progressive bifocal chorioretinal atrophy
* PBD - See Peroxisome biogenesis disorders
* PBD, ZSS - See Zellweger spectrum
* PBFE deficiency - See D-bifunctional protein deficiency
* PBGD deficiency - See Acute intermittent porphyria
* PBLT - See Diffuse panbronchiolitis
*   PBS - See Interstitial cystitis
* PBT - See Piebaldism
* PC deficiency - See Pyruvate carboxylase deficiency
* PCARP - See Posterior column ataxia with retinitis pigmentosa
* PCBD - See Polycystic bone disease
* PCC - See Cataract congenital dominant non nuclear
* PCC deficiency - See Propionic acidemia
* PCDH19-related female-limited epilepsy
* PCDH19-related FLE - See PCDH19-related female-limited epilepsy
* PCDH19-related infantile epileptic encephalopathy - See PCDH19-related female-limited epilepsy
* PCH - See Paroxysmal cold hemoglobinuria
* PCH with optic atrophy - See Pontocerebellar hypoplasia type 3
* P-CIIS - See PHACE syndrome
* PCK2 deficiency - See PEPCK 2 deficiency
* PCLD - See Polycystic liver disease
* PCM - See Paracoccidioidomycosis
*   PCOS - See Polycystic ovarian syndrome
* PCR - See Primary cortisol resistance
* PD - See Prolidase deficiency
* PDA - See Patent ductus arteriosus
* PDA1 - See Patent ductus arteriosus
*   PDB - See Paget disease of bone
* PDC - See Dystonia 8
* PDD - See Camurati-Engelmann disease
* PDGFRB-associated chronic eosinophilic leukemia
* PDHC - See Pyruvate dehydrogenase deficiency
* PDJ - See Autosomal recessive juvenile Parkinson disease
* PDP - See Pachydermoperiostosis
* PDS - See Pendred syndrome
* PDS, defective biosynthesis of - See Ehlers-Danlos syndrome progeroid type
* PDV - See Patent ductus venosus
* Pearson marrow-pancreas syndrome - See Pearson syndrome
* Pearson syndrome
* Pearson's marrow/pancreas syndrome - See Pearson syndrome
* Pearson's syndrome - See Pearson syndrome
* Pectus carinatum
* Pectus excavatum, macrocephaly and dysplastic nails - See Zori Stalker Williams syndrome
* Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome - See Beemer Ertbruggen syndrome
* PED - See Dystonia 18
* Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections - See PANDAS
* Pediatric Crohn's disease
* Pediatric hypertension
* Pediatric MS - See Pediatric multiple sclerosis
* Pediatric multiple sclerosis
* Pediatric onset Crohn's disease - See Pediatric Crohn's disease
* Pediatric T-cell leukemia
* Pediatric thyroid cancer - See Thyroid cancer, childhood
* Pediatric ulcerative colitis
* Peeling skin syndrome
* Peeling skin syndrome, acral type (subtype) - See Peeling skin syndrome
* Peeling skin syndrome, inflammatory type B (subtype) - See Peeling skin syndrome
* Peeling skin syndrome, noninflammatory type A (subtype) - See Peeling skin syndrome
* Peg teeth - See Hutchinson incisors
* PEHO syndrome
* PEL - See Primary effusion lymphoma
* Pelger Huet anomaly - See Pelger-Huet anomaly
* Pelger-Huet anomaly
* Pelger-Huet nuclear anomaly - See Pelger-Huet anomaly
* Pelizaeus Merzbacher brain sclerosis - See Pelizaeus-Merzbacher disease
* Pelizaeus Merzbacher disease - See Pelizaeus-Merzbacher disease
* Pelizaeus-Merzbacher disease
* Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type - See Pelizaeus-Merzbacher disease, late-onset type
* Pelizaeus-Merzbacher disease, late-onset type
* Pellagra
* Pellagra like syndrome
* Pellagra-like rash with neurologic manifestations - See Pellagra like syndrome
* Pelletier-Leisti syndrome - See Floating-Harbor syndrome
* Pellucid marginal degeneration
* Pelvic dysplasia arthrogryposis of lower limbs
* Pelvic hypoplasia with arthrogryposis of lower limbs - See Pelvic dysplasia arthrogryposis of lower limbs
* Pelvic hypoplasia with lower limb arthrogryposis - See Pelvic dysplasia arthrogryposis of lower limbs
* Pelvic lipomatosis
*   Pelvic pain syndrome - See Interstitial cystitis
* Pelvic retroperitoneal liposarcoma - See Retroperitoneal liposarcoma
* Pelviscapular dysplasia - See Cousin syndrome
* Pelvi-ureteric junction obstruction - See Multicystic renal dysplasia, bilateral
* Pemphigoid - See Bullous pemphigoid
* Pemphigoid gestationis
* Pemphigoid, ocular cicatricial - See Ocular cicatricial pemphigoid
* Pemphigus
* Pemphigus and fogo selvagem
* Pemphigus foliaceus
* Pemphigus vulgaris
* Pemphigus vulgaris, familial
* Pena Shokeir syndrome type 2 - See Cockayne syndrome type II
* Pena-Shokeir syndrome type 2 - See Cockayne syndrome type II
* Pena-Shokeir syndrome, type 1 - See Fetal akinesia deformation sequence
* Pendred syndrome
* Penile cancer, adult
* Penile cancer, childhood
* Penile carcinoma - See Penile cancer, adult
*   Penile curvature - See Peyronie disease
* Penile Mondor disease - See Mondor disease
* Penis agenesia - See Penis agenesis
* Penis agenesis
* Penoscrotal transposition
* Pentalogy of Cantrell
* Pentasomy X - See 49,XXXXX syndrome
* Pentasomy X syndrome - See 49,XXXXX syndrome
* Penta-X syndrome - See 49,XXXXX syndrome
* Pentosuria
* Penttinen-Aula syndrome
* PEP carboxykinase deficiency - See PEPCK 1 deficiency
* PEPCK 1 deficiency
* PEPCK 2 deficiency
* PEPCK2 - See PEPCK 2 deficiency
* Pepper syndrome - See Cohen syndrome
* Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia - See Gastrocutaneous syndrome
* Peptidase deficiency - See Prolidase deficiency
* Peptide growth factors deficiency - See Peptidic growth factors deficiency
* Peptidic growth factors deficiency
* Perheentupa syndrome - See Mulibrey Nanism
* Periarteritis nodosa
* Pericardial constriction and growth failure - See Mulibrey Nanism
* Pericarditis arthropathy camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* Pericardium absent mental retardation short stature
* Perihepatitis syndrome - See Fitz-Hugh-Curtis syndrome
* Perilymph fistula - See Perilymphatic fistula
* Perilymphatic fistula
* Perilymphatic Gusher-deafness syndrome - See Deafness, X-linked 2
* Perimyositis
* Perinatal arterial ischemic stroke - See Neonatal stroke
* Perinatal ischemic stroke - See Neonatal stroke
* Perinatal lethal Gaucher disease - See Gaucher disease perinatal lethal
* Perinatal stroke - See Neonatal stroke
* Perinatal Sudanophilic leukodystrophy - See Leukodystrophy, hypomyelinating 3
* Perineural cysts - See Tarlov cysts
* Perinuclear cataract - See Cataract, zonular
* Periodic disease - See Familial Mediterranean fever
* Periodic fever - See Familial Mediterranean fever
* Periodic fever Dutch type - See Hyper-IgD syndrome
* Periodic fever, aphthous stomatitis, pharyngitis and adenitis
* Periodic fever, familial, autosomal dominant
* Periodic limb movements in sleep - See Restless legs syndrome, susceptibility to, 6
* Periodic paralysis type 3 - See Normokalemic periodic paralysis
* Periodic paralysis, potassium-sensitive cardiodysrhythmic type - See Andersen-Tawil syndrome
* Periodic peritonitis - See Familial Mediterranean fever
* Periodic systemic capillary leak syndrome - See Systemic capillary leak syndrome
* Periorificial lentiginosis syndrome - See Peutz Jeghers syndrome
* Peripapillary choriopathy - See Serpiginous choroiditis
* Peripartum cardiomyopathy
* Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome - See Acrodysostosis
* Peripheral motor neuropathy associated with autonomic dysfunction - See Motor neuropathy peripheral with dysautonomia
* Peripheral neuroectodermal tumor - See Supratentorial primitive neuroectodermal tumor
* Peripheral retinal inflammation - See Pars planitis
* Peripheral sensory neuropathy, autosomal dominant (PSN) - See Charcot-Marie-Tooth disease type 2B
* Peripheral T-cell lymphoma
* Perisylvian syndrome - See Bilateral perisylvian polymicrogyria
* Perisylvian syndrome, congenital bilateral - See Bilateral perisylvian polymicrogyria
* Peritoneal retractile mesenteritis - See Sclerosing mesenteritis
* Periventricular leukomalacia
* Periventricular nodular heterotopia 1 - See X-linked periventricular heterotopia
* Perlman syndrome - See Renal hamartomas nephroblastomatosis and fetal gigantism
* Permanent diabetes mellitus of infancy - See Permanent neonatal diabetes mellitus
* Permanent neonatal diabetes mellitus
* Pernicious anemia, congenital, due to defect of intrinsic factor - See Intrinsic factor deficiency
* Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria - See Imerslund-Grasbeck syndrome
* Pernio - See Perniosis
* Perniosis
* Peromelia with micrognathia - See Hanhart syndrome
* Peroneal muscular atrophy - See Charcot-Marie-Tooth disease type 1B
* Peroneal muscular atrophy with pyramidal features, autosomal dominant - See Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
* Peroneal nerve, accessory deep - See Accessory deep peroneal nerve
* Peroutka sneeze - See Autosomal dominant compelling helio ophthalmic outburst syndrome
* Peroxisomal Acyl-CoA oxidase deficiency - See Pseudoneonatal adrenoleukodystrophy
* Peroxisomal alanine glyoxylate aminotransferase deficiency - See Primary hyperoxaluria type 1
* Peroxisomal bifunctional enzyme deficiency - See D-bifunctional protein deficiency
* Peroxisomal biogenesis disorders, Zellweger syndrome spectrum - See Zellweger spectrum
*   Peroxisomal defects - See Peroxisome disorders
* Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata type 2
* Peroxisome biogenesis disorders
*   Peroxisome diseases - See Peroxisome disorders
*   Peroxisome disorders
* Perrault syndrome - See Gonadal dysgenesis, XX type
* Perry syndrome
* Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
* Persistent genital arousal - See Persistent genital arousal disorder
* Persistent genital arousal disorder
* Persistent hiccups - See Chronic hiccups
* Persistent hyperinsulinemic hypoglycemia of infancy - See Familial hyperinsulinism
* Persistent Mullerian duct syndrome
* Persistent mullerian duct syndrome, types 1 and 2 - See Persistent Mullerian duct syndrome
* Persistent oviduct syndrome - See Persistent Mullerian duct syndrome
* Persistent truncus arteriosus
* Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia - See Grant syndrome
* Perthes disease - See Legg-Calve-Perthes disease
* Perthes-like hip disease, enchondromata, and ecchondromata - See Upington disease
* Pertussis - See Whooping cough
* Pes valgus, congenital convex - See Vertical talus, congenital
*   PET - See Patulous Eustachian Tube
* Peters anomaly
* Peters anomaly with short limb dwarfism - See Peters plus syndrome
* Peters plus syndrome
* Petit mal, impulsive - See Juvenile myoclonic epilepsy
* Petit-Fryns syndrome
* Pettigrew syndrome - See Dandy-Walker malformation with mental retardation basal ganglia disease and seizures
* Petty Laxova Wiedemann syndrome - See Progeroid syndrome Petty type
* Peutz Jeghers syndrome
* Peutz-Jeghers polyposis - See Peutz Jeghers syndrome
*   Peyronie disease
* PF - See Pemphigus foliaceus
* PFAPA - See Periodic fever, aphthous stomatitis, pharyngitis and adenitis
* PFCP - See Familial erythrocytosis, 1
* PFD - See Properdin deficiency, X-linked
* PFD - See McCune Albright syndrome
* PFD Lavia type - See Pseudoinflammatory fundus dystrophy
* PFD, Finnish type - See Pseudoinflammatory fundus dystrophy
* Pfeiffer cardiocranial syndrome - See Cardiocranial syndrome
* Pfeiffer Kapferer syndrome
* Pfeiffer Mayer syndrome
* Pfeiffer Palm Teller syndrome
* Pfeiffer Rockelein syndrome
* Pfeiffer Singer Zschiesche syndrome - See Cardiocranial syndrome
* Pfeiffer syndrome
* Pfeiffer syndrome 2 - See Cardiocranial syndrome
* Pfeiffer Tietze Welte syndrome
* Pfeiffer type acrocephalosyndactyly - See Pfeiffer syndrome
* Pfeiffer-type cardiocranial syndrome - See Cardiocranial syndrome
* PFHB1A - See Progressive familial heart block type 1A
* PFHB1B - See Progressive familial heart block type 1B
* PFHB2 - See Progressive familial heart block type 2
* PFHBII - See Progressive familial heart block type 2
* PFIC1 - See Cholestasis, progressive familial intrahepatic 1
* PFIC2 - See Cholestasis, progressive familial intrahepatic 2
* PFIC3 - See Cholestasis, progressive familial intrahepatic 3
* PFIC4 - See Cholestasis, progressive familial intrahepatic 4
* PFKM deficiency - See Glycogen storage disease type 7
* PGA 1 - See Autoimmune polyglandular syndrome type 1
* PGA 2 - See Autoimmune polyglandular syndrome type 2
* PGAD - See Persistent genital arousal disorder
* PGAM deficiency - See Phosphoglycerate mutase deficiency
* PGAMM deficiency - See Phosphoglycerate mutase deficiency
* PGK deficiency - See Phosphoglycerate kinase deficiency
* PGK1 deficiency - See Phosphoglycerate kinase deficiency
* PGL - See Paragangliomas 1
* PGL 1 - See Paragangliomas 1
* PGL2 - See Paragangliomas 2
* PGL3 - See Paragangliomas 3
* PGL4 - See Paragangliomas 4
* PGS - See Dandy-Walker malformation with mental retardation basal ganglia disease and seizures
* PH III - See Primary hyperoxaluria type 3
* PHA - See Pelger-Huet anomaly
* PHA1A - See Autosomal dominant pseudohypoaldosteronism type 1
* PHA1B - See Autosomal recessive pseudohypoaldosteronism type 1
* PHA2 - See Pseudohypoaldosteronism type 2
* PHACE association - See PHACE syndrome
* PHACE syndrome
* PHACES association - See PHACE syndrome
* Phacomatosis pigmentokeratotica
* Phacomatosis pigmentovascularis
* Phagedenic gingivitis - See Acute necrotizing ulcerative gingivitis
* Phakomatosis pigmentovascularis - See Phacomatosis pigmentovascularis
* Pharmacogenic myopathy - See Malignant hyperthermia
* Pharynx and larynx hypoplasia with omphalocele - See Shprintzen omphalocele syndrome
* PHAVER syndrome
* PHC syndrome - See Book syndrome
* Phelan-McDermid syndrome - See 22q13.3 deletion syndrome
* Phenobarbital antenatal infection
* Phenobarbital embryopathy - See Phenobarbital antenatal infection
* Phenylalanine hydroxylase deficiency - See Phenylketonuria
* Phenylketonuria
* Phenylketonuria type 2 - See Dihydropteridine reductase deficiency
* Phenytoin Embryopathy - See Fetal hydantoin syndrome
* Pheochromocytoma
* Pheochromocytoma and amyloid producing medullary thyroid carcinoma - See Multiple endocrine neoplasia type 2A
* Pheochromocytoma and islet cell tumor of the pancreas - See Pheochromocytoma-islet cell tumor syndrome
* Pheochromocytoma, childhood
* Pheochromocytoma, extraadrenal and cervical paraganglioma - See Paragangliomas 4
* Pheochromocytoma, familial extraadrenal - See Paragangliomas 4
* Pheochromocytoma-islet cell tumor syndrome
* PHHI - See Familial hyperinsulinism
* Philadelphia-negative chronic myeloid leukemia
* Philippine hemorrhagic fever - See Dengue fever
* Phocomelia
* Phocomelia ectrodactyly deafness sinus arrhythmia
* Phocomelia thrombocytopenia encephalocele and urogenital malformations - See DK phocomelia syndrome
* Phocomelia, Schinzel type - See Ulna and fibula absence of with severe limb deficiency
* Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
* Phosphatidylcholine Red cell membrane disorder - See Red cell phospholipid defect with hemolysis
* Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency - See Lowe oculocerebrorenal syndrome
* Phosphoenolpyruvate carboxykinase 2 deficiency - See PEPCK 2 deficiency
* Phosphoenolpyruvate carboxykinase deficiency - See PEPCK 1 deficiency
* Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency - See PEPCK 1 deficiency
* Phosphoenolpyruvate carboxylase deficiency - See PEPCK 1 deficiency
* Phosphoethanol-aminuria - See Hypophosphatasia
* Phosphoglucomutase deficiency type 1 - See Glycogen storage disease type 14
* Phosphoglucomutase deficiency type 2
* Phosphoglucomutase deficiency type 3
* Phosphoglucomutase deficiency type 4
* Phosphoglycerate kinase 1 deficiency - See Phosphoglycerate kinase deficiency
* Phosphoglycerate kinase deficiency
* Phosphoglycerate mutase deficiency
* Phosphomannoisomerase deficiency
* Phosphomannomutase 2 deficiency - See Congenital disorder of glycosylation type 1A
* Phosphopyruvate carboxylase deficiency - See PEPCK 1 deficiency
* Phosphoribosylpyrophosphate synthetase deficiency
* Phosphorylase deficiency glycogen-storage disease of liver - See Glycogen storage disease type 6
* Phosphorylase kinase deficiency of liver - See Glycogen storage disease 8
* Photic sneeze reflex - See Autosomal dominant compelling helio ophthalmic outburst syndrome
* Photosensitive epilepsy
* Photosensitive trichothiodystrophy - See Trichothiodystrophy photosensitive
* Photosensitivity with defective DNA synthesis - See Xeroderma pigmentosum, variant type
* PHP II - See Pseudohypoparathyroidism type 2
* PHP1A - See Pseudohypoparathyroidism type 1A
* PHP1B - See Pseudohypoparathyroidism type 1B
* PHP1C - See Pseudohypoparathyroidism type 1C
* PHP2 - See Pseudohypoparathyroidism type 2
* PHPX - See Panhypopituitarism X-linked
* PHS - See Pallister-Hall syndrome
* Phyllodes breast tumor - See Cystosarcoma phyllodes
* Phyllodes tumor of the breast - See Cystosarcoma phyllodes
* Phyllodes tumor of the prostate
* Phytanic acid oxidase deficiency - See Refsum disease
* Phytosterolemia - See Sitosterolemia
* PIBIDS syndrome
* PIC - See Punctate inner choroidopathy
* PICA syndrome - See Wallenberg syndrome
* Picardi-Lassueur-Little syndrome
* Pick disease of the brain - See Pick's disease
* Pick's disease
* Piebald trait neurologic defects - See Telfer Sugar Jaeger syndrome
* Piebaldism
* Piepkorn Karp Hickok syndrome
* Pierre Marie cerebellar ataxia
* Pierre Robin sequence
* Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
* Pierre Robin syndrome and oligodactyly - See Robin sequence and oligodactyly
* Pierre Robin syndrome skeletal dysplasia polydactyly
* Pierre Robin syndrome with congenital heart malformation and clubfoot - See TARP syndrome
* Pierre Robin syndrome with fetal chondrodysplasia - See Weissenbacher-Zweymuller syndrome
* Pierre Robin syndrome with hyperphalangy and clinodactyly - See Catel Manzke syndrome
* Pierre Robin syndrome, faciodigital anomaly - See Chitayat Meunier Hodgkinson syndrome
* Pierre-Robin syndrome - See Pierre Robin sequence
* Pierson syndrome
* Pigmentary abnormality of the anterior segment of the eye - See Heterochromia iridis
* Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts - See Griscelli syndrome type 1
* Pigmentary disorder with hearing loss - See Ermine phenotype
* Pigmentary orthochromatic leukodystrophy - See Hereditary diffuse leukoencephalopathy with spheroids
* Pigmentary retinopathy
* Pigment-dispersion syndrome
* Pigmented dermatofibrosarcoma protuberans - See Bednar's tumor
* Pigmented purpuric eruption
* Pigmented villonodular synovitis
* Pignata Guarino syndrome - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
* PIK3CA-associated segmental overgrowth
* Pili annulati
* Pili torti
* Pili torti and developmental delay - See Pili torti developmental delay neurological abnormalities
* Pili torti and nerve deafness - See Bjornstad syndrome
* Pili torti developmental delay neurological abnormalities
* Pili torti onychodysplasia
* Pili torti-sensorineural hearing loss - See Bjornstad syndrome
* Pili trianguli et Canaliculi - See Uncombable hair syndrome
* Pillay syndrome
* Pilli Annulati - See Ringed hair disease
* Pilo dento ungular dysplasia microcephaly
* Pilocytic astrocytoma
* Pilodental dysplasia with refractive errors
* Pilomatricoma - See Pilomatrixoma
* Pilomatrixoma
* Pilotto syndrome
* Pindborg tumor - See Calcifying Epithelial Odontogenic Tumor
*   Pineal cyst
* Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities - See Rabson-Mendenhall syndrome
* Pineal parenchymal tumors of intermediate differentiation
* Pinealocytoma - See Pineocytoma
* Pinealoma - See Pineocytoma
* Pineoblastoma
* Pineoblastoma, childhood
* Pineocytoma
* Pingelapese blindness - See Achromatopsia 3
* Pinheiro Freire-Maia Miranda syndrome
* Pinhole pupils - See Microcoria, congenital
* Pinsky DiGeorge Harley syndrome - See Microphthalmia mental deficiency
* Pinta
* Pinworm - See Enterobiasis
* Pipecolic acidemia - See Hyperpipecolatemia
* PIRA - See Reactive arthritis
* Piriformis syndrome
* Pitt Hopkins syndrome - See Pitt-Hopkins syndrome
* Pitt Rogers Danks syndrome - See Pitt syndrome
* Pitt syndrome
* Pitt Williams brachydactyly - See Brachydactyly types B and E combined
* Pitt-Hopkins syndrome
* Pitt-Hopkins-like syndrome
* Pitt-Rogers-Danks syndrome - See Pitt syndrome
* Pituitary cancer
* Pituitary carcinoma - See Pituitary cancer
* Pituitary cretinism - See Thyrotropin deficiency, isolated
* Pituitary diabetes insipidus - See Neurogenic diabetes insipidus
* Pituitary dwarfism 1 - See Isolated growth hormone deficiency type 1A
* Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant - See Isolated growth hormone deficiency type 2
* Pituitary dwarfism II - See Laron syndrome
* Pituitary dwarfism III - See Pituitary hormone deficiency, combined 2
* Pituitary dwarfism IV (formerly) - See Panhypopituitarism X-linked
* Pituitary dwarfism with large sella turcica
* Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin - See Kowarski syndrome
* Pituitary giant - See Acromegaly
* Pituitary hormone deficiency, combined 1
* Pituitary hormone deficiency, combined 2
* Pituitary hormone deficiency, combined 3
* Pituitary hormone deficiency, combined 4
* Pituitary hormone deficiency, combined with or without cerebellar defects - See Pituitary hormone deficiency, combined 4
* Pituitary hormone deficiency, combined with rigid cervical spine - See Pituitary hormone deficiency, combined 3
* Pituitary insufficiency - See Hypopituitarism
* Pityriasis lichenoides
* Pityriasis lichenoides chronica
* Pityriasis lichenoides et varioliformis acuta
* Pityriasis rotunda
* Pityriasis rubra pilaris
* Pityriasis rubra pilaris--familial type - See Pityriasis rubra pilaris
* Piussan Lenaerts Mathieu syndrome
* PIV3 - See Parainfluenza virus type 3
* PJI - See Juvenile polyposis syndrome
* PJI - See Prosthetic joint infection
* PJS - See Peutz Jeghers syndrome
* PK deficiency - See Pyruvate kinase deficiency
* PKAN - See Pantothenate kinase-associated neurodegeneration
* PKC - See Dystonia 10
*   PKD - See Polycystic kidney disease
*   PKD1 - See Polycystic kidney disease, type 1
*   PKD2 - See Polycystic kidney disease, type 2
*   PKD3 - See Polycystic kidney disease, type 3
* PKDTS - See Polycystic kidneys, severe infantile with tuberous sclerosis
* PKND - See Pycnodysostosis
* PKS - See Pallister-Killian mosaic syndrome
* PKU - See Phenylketonuria
* PKWS - See Parkes Weber syndrome
* Placenta Diseases - See Placenta disorder
* Placenta disorder
* Placenta neoplasm - See Trophoblastic tumor placental site
* Placental steroid sulfatase deficiency - See X-linked ichthyosis
* Plagiocephaly
* Plagiocephaly and X-linked mental retardation
* Plant sterol storage disease - See Sitosterolemia
* Plasma cell dyscrasia - See Multiple myeloma
* Plasma cell leukemia
* Plasma cell myeloma - See Multiple myeloma
* Plasma thromboplastin antecedent deficiency
* Plasmablastic lymphoma
* Plasmablastic multicentric Castleman disease - See Multicentric Castleman’s Disease
* Plasmacytoma - See Anaplastic plasmacytoma
* Plasmalogens synthesis deficiency isolated
* Plasminogen activator inhibitor type 1 deficiency
* Platelet alpha-granule deficiency - See Gray platelet syndrome
* PLATELET CYCLOOXYGENASE DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
* Platelet defects and oculocutaneous albinism - See Hermansky Pudlak syndrome 2
* Platelet disorder, Aspirin-like - See Platelet disorder, familial, with associated myeloid malignancy
* Platelet disorder, familial, with associated myeloid malignancy
* Platelet factor X receptor deficiency - See Scott syndrome
* Platelet fibrinogen receptor, deficiency of - See Glanzmann thrombasthenia
* Platelet glycoprotein 1b, deficiency of - See Giant platelet syndrome
* Platelet glycoprotein 2B 3A deficiency - See Glanzmann thrombasthenia
* Platelet granule deficiency disorder - See White platelet syndrome
* Platelet storage pool deficiency
* Platelet storage pool diseases - See Platelet storage pool deficiency
* Platyspondylic lethal skeletal dysplasia Torrance type
* Platyspondyly with amelogenesis imperfecta - See Verloes Bourguignon syndrome
* PLCA - See Amyloidosis primary cutaneous
* Pleiotropic, autosomal dominant disorder affecting connective tissue - See Storm syndrome
* Pleoconial myopathy with salt craving
* Pleomorphic malignant fibrous histiocytoma
* Pleomorphic xanthoastrocytoma
* Pleonosteosis Leri type - See Leri pleonosteosis
* Pleuropulmonary blastoma
* PLEVA - See Pityriasis lichenoides et varioliformis acuta
* Plexiform schwannoma (histologic variant) - See Schwannoma
* Plexosarcoma
* PLOSL - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Plott syndrome - See Vocal cord dysfunction familial
* PLS juvenile - See Juvenile primary lateral sclerosis
* PLSD San Diego type - See Skeletal dysplasia, San Diego type
* PLSDT - See Platyspondylic lethal skeletal dysplasia Torrance type
* Plummer Vinson syndrome
* Plurimalformative syndrome - See Agnathia-microstomia-synotia
* PMC - See Paramyotonia congenita
* PMCD - See Multicentric Castleman’s Disease
* PMD - See Pelizaeus-Merzbacher disease
* PMDS - See Persistent Mullerian duct syndrome
* PMGX - See Bilateral perisylvian polymicrogyria
* PML - See Progressive multifocal leukoencephalopathy
* PMP - See Pseudomyxoma peritonei
* PMS - See Polydactyly myopia syndrome
* PMV - See Mitral valve prolapse, familial, X-linked
* PND - See Paraneoplastic Neurologic Disorders
* PNDC - See Alpers syndrome
* PNDM - See Permanent neonatal diabetes mellitus
* PNET - See Supratentorial primitive neuroectodermal tumor
* Pneumoconiosis - See Coal worker's pneumoconiosis
* Pneumocystic carinii pneumonia
* Pneumocystosis
* Pneumonia lipid - See Exogenous lipoid pneumonia
* Pneumonia, eosinophilic
* PNH - See Paroxysmal nocturnal hemoglobinuria
* PNKD1 - See Dystonia 8
* PNP deficiency - See Purine nucleoside phosphorylase deficiency
* PNPO Deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
* PNPO-related neonatal epileptic encephalopathy - See Pyridoxal 5'-phosphate-dependent epilepsy
* POADS syndrome - See Miller syndrome
* Podder-Tolmie syndrome
* POEMS syndrome
* POFD - See McCune Albright syndrome
* POH - See Progressive osseous heteroplasia
* Poikiloderma atrophicans and cataract - See Rothmund Thomson syndrome
* Poikiloderma Congenitale - See Rothmund Thomson syndrome
* Poikiloderma of Kindler - See Kindler syndrome
* Poikiloderma of Rothmund-Thomson - See Rothmund Thomson syndrome
* Poikiloderma with neutropenia
* Poikiloderma with neutropenia Clericuzio type - See Poikiloderma with neutropenia
* Poikiloderma, Alopecia, Retrognathism, and Cleft palate - See PARC syndrome
* Poikiloderma, congenital, with bullae, weary type - See Kindler syndrome
* Poikiloderma, hereditary acrokeratotic - See Kindler syndrome
* Pointer syndrome
* POIS - See Post orgasmic illness syndrome
* Poland anomaly - See Poland syndrome
* Poland sequence - See Poland syndrome
* Poland syndactyly - See Poland syndrome
* Poland syndrome
* Poland's syndrome - See Poland syndrome
* POLD - See Hereditary diffuse leukoencephalopathy with spheroids
* Polio - See Poliomyelitis
* Polio late effects - See Post Polio syndrome
* Poliodystrophia cerebri progressiva - See Alpers syndrome
* Poliomyelitis
* POLIP - See Mitochondrial neurogastrointestinal encephalopathy syndrome
* Pollitt syndrome - See Trichorrhexis nodosa syndrome
* Polyarteritis nodosa
* Polyarticular juvenile rheumatoid arthritis - See Polyarticular onset juvenile idiopathic arthritis
* Polyarticular onset juvenile idiopathic arthritis
* Polycystic bone disease
* Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia - See Sener syndrome
*   Polycystic kidney disease
*   Polycystic kidney disease 1 - See Polycystic kidney disease, type 1
*   Polycystic kidney disease 1, autosomal dominant - See Polycystic kidney disease, type 1
*   Polycystic kidney disease 2 - See Polycystic kidney disease, type 2
*   Polycystic kidney disease 2, autosomal dominant - See Polycystic kidney disease, type 2
*   Polycystic kidney disease 3 - See Polycystic kidney disease, type 3
*   Polycystic kidney disease 3, autosomal dominant - See Polycystic kidney disease, type 3
*   Polycystic kidney disease, adult type - See Autosomal dominant polycystic kidney disease
* Polycystic kidney disease, infantile type - See Autosomal recessive polycystic kidney disease
*   Polycystic kidney disease, type 1
*   Polycystic kidney disease, type 2
*   Polycystic kidney disease, type 3
*   Polycystic kidneys - See Polycystic kidney disease
* Polycystic kidneys, medullary type - See Medullary cystic kidney disease 1
* Polycystic kidneys, severe infantile with tuberous sclerosis
* Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Polycystic liver disease
*   Polycystic ovarian syndrome
* Polycystic ovaries urethral sphincter dysfunction - See Fowler's syndrome
* Polycythemia rubra vera - See Polycythemia vera
* Polycythemia vera
* Polycythemia, primary familial and congenital - See Familial erythrocytosis, 1
* Polydactylia - See Polydactyly
* Polydactylism - See Polydactyly
* Polydactyly
* Polydactyly alopecia seborrheic dermatitis - See Garret Tripp syndrome
* Polydactyly cleft lip palate psychomotor retardation
* Polydactyly myopia syndrome
* Polydactyly postaxial
* Polydactyly postaxial dental and vertebral
* Polydactyly postaxial with median cleft of upper lip - See Orofaciodigital syndrome 5
* Polydactyly preaxial 1 - See Polydactyly preaxial type 1
* Polydactyly preaxial 4 - See Polydactyly preaxial type 4
* Polydactyly preaxial type 1
* Polydactyly preaxial type 4
* Polydactyly syndrome middle ray duplication
* Polydactyly with absent tibia - See Absence of tibia with polydactyly
* Polydactyly with neonatal chondrodystrophy type 1 - See Short rib-polydactyly syndrome type 1
* Polydactyly with neonatal chondrodystrophy type 2 - See Short rib-polydactyly syndrome type 2
* Polydactyly with neonatal chondrodystrophy type III - See Short rib-polydactyly syndrome type 3
* Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence - See Say-Field-Coldwell syndrome
* Polydactyly, sex reversal, renal hypoplasia, and unilo bular lung - See Smith-Lemli-Opitz syndrome type 2
* Polyembryoma
* Polyendocrinopathy, immune dysfunction and diarrhea x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* Polyglandular autoimmune syndrome type 1 - See Autoimmune polyglandular syndrome type 1
* Polyglandular autoimmune syndrome type 3 - See Autoimmune polyglandular syndrome type 3
* Polyglandular autoimmune syndrome, type 2 - See Autoimmune polyglandular syndrome type 2
* Polyglandular deficiency syndrome type 2 - See Autoimmune polyglandular syndrome type 2
* Polyglucosan body disease, adult
* Polyglucosan body disease, adult form - See Polyglucosan body disease, adult
* Polygonal cell hepatocellular carcinoma with fibrous stroma - See Fibrolamellar hepatocellular carcinoma
* Polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures - See Fetal akinesia syndrome X-linked
* Polymicrogyria turricephaly hypogenitalism
* Polymicrogyria, bilateral perisylvian - See Bilateral perisylvian polymicrogyria
* Polymorphic catecholergic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
* Polymorphic eruption of pregnancy - See Pruritic urticarial papules plaques of pregnancy
* Polymorphic reticulosis
* Polymorphous low-grade adenocarcinoma
* Polymyoclonus infantile - See Dancing eyes-dancing feet syndrome
* Polymyositis
* Polynesian bronchiectasis - See Primary ciliary dyskinesia
* Polynesian bronchiectasis - See Primary ciliary dyskinesia
* Polyneuropathy - intellectual deficit - acromicria - premature menopause - See Polyneuropathy mental retardation acromicria premature menopause
* Polyneuropathy hepatosplenomegaly hyperpigmentation - See Tang Hsi Ryu syndrome
* Polyneuropathy mental retardation acromicria premature menopause
* Polyneuropathy organomegaly - See POEMS syndrome
* Polyneuropathy, cataract, deafness syndrome - See Cataract ataxia deafness
* Polyneuropathy, familial recurrent - See Hereditary neuropathy with liability to pressure palsy
* Polyneuropathy, hand defect - See Hamanishi Ueba Tsuji syndrome
* Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction - See Mitochondrial neurogastrointestinal encephalopathy syndrome
* Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome - See POEMS syndrome
* Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum - See Andermann syndrome
* Polyomavirus allograft nephropathy
* Polyomavirus nephropathy - See BK-virus nephropathy
* Polyomavirus-related transplant nephropathy - See Polyomavirus allograft nephropathy
* Polyosteolysis/hyperostosis syndrome
* Polyostotic osteolytic dysplasia, hereditary expansile
* Polyposis coli and multiple hard and soft tissue tumors - See Gardner syndrome
* Polyposis familial of entire gastrointestinal tract - See Juvenile polyposis syndrome
* Polyposis juvenile intestinal - See Juvenile polyposis syndrome
* Polyposis skin pigmentation alopecia fingernail changes - See Cronkhite-Canada disease
* Polyposis, adenomatous intestinal - See Familial adenomatous polyposis
* Polyposis, hamartomatous intestinal - See Peutz Jeghers syndrome
* Polyps-and-spots syndrome - See Peutz Jeghers syndrome
* Polysyndactyly cardiac malformation
* Polysyndactyly overgrowth syndrome - See Barnicoat Baraitser syndrome
* Polysyndactyly trigonocephaly agenesis of corpus callosum
* Polysyndactyly type Haas - See Syndactyly type 4
* Polysyndactyly uncomplicated - See Polydactyly preaxial type 4
* Polysyndactyly with peculiar skull shape - See Greig cephalopolysyndactyly syndrome
* Polysyndactyly, Haas type - See Syndactyly type 4
* Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate - See Acrofrontofacionasal dysostosis syndrome
* Polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis - See Manz syndrome
* POMC deficiency - See Proopiomelanocortin deficiency
* Pompe disease - See Glycogen storage disease type 2
* Poncet Spiegler cylindroma - See Poncet-Spiegler's cylindroma
* Poncet-Spiegler's cylindroma
* Pontiac fever - See Legionellosis
*   Pontine hemorrhage
* Pontine tegmental cap dysplasia
* Pontobulbar palsy and neurosensory deafness - See Brown-Vialetto-Van Laere syndrome
* Pontocerebellar hypoplasia
* Pontocerebellar hypoplasia type 1
* Pontocerebellar hypoplasia type 2
* Pontocerebellar hypoplasia type 3
* Pontocerebellar hypoplasia type 4
* Pontocerebellar hypoplasia type 5
* Pontocerebellar hypoplasia type 6
* Pontocerebellar hypoplasia with anterior horn cell disease - See Pontocerebellar hypoplasia type 1
* Pontocerebellar hypoplasia with infantile spinal muscular atrophy - See Pontocerebellar hypoplasia type 1
* Pontoneocerebellar Hypoplasia
* Poorly differentiated neuroendocrine carcinoma of the bladder - See Small cell carcinoma of the bladder
* Popliteal pterygium syndrome
* Popliteal pterygium syndrome lethal type
* PORC - See Chester porphyria
* Porcelain nails - See Leukonychia totalis
* Porcupine man - See Ichthyosis hystrix gravior
* Porencephaly
* Porencephaly cerebellar hypoplasia internal malformations
* Porokeratosis of Mibelli
* Porokeratosis plantaris palmaris et disseminata
* Porokeratosis punctata palmaris et plantaris - See Punctate porokeratosis
* Porokeratosis, disseminated superficial actinic 1
* Porokeratosis, disseminated superficial actinic 2
* Porphobilinogen deaminase deficiency - See Acute intermittent porphyria
* Porphyria
* Porphyria cutanea tarda
* Porphyria hepatica coproporphyria - See Hereditary coproporphyria
* Porphyria hepatica II - See Hereditary coproporphyria
* Porphyria variegate - See Variegate porphyria
* Porphyria, Chester type - See Chester porphyria
* Porphyria, congenital erythropoietic - See Congenital porphyria
* Porphyria, hepatic - See Porphyria cutanea tarda
* Porphyria, South African type - See Variegate porphyria
* Porphyria, Swedish type - See Acute intermittent porphyria
* Port wine nevi mega cisterna magna hydrocephalus - See Nova syndrome
*   Portal hypertension
* Portal hypertension due to infrahepatic block
* Portosystemic venous shunt, congenital - See Patent ductus venosus
* Port-wine stain familial multiple - See Nevi flammei, familial multiple
* Positive rheumatoid factor polyarthritis
*   Posner-Schlossman syndrome
* Post orgasmic illness syndrome
* Post orgasmic sick syndrome - See Post orgasmic illness syndrome
* Post Polio syndrome
* Postaxial acrofacial dysostosis (POADS) syndrome - See Miller syndrome
* Postaxial polydactyly mental retardation
* Postaxial Polydactyly with progressive myopia - See Polydactyly myopia syndrome
* Postaxial polydactyly-progressive myopia syndrome - See Polydactyly myopia syndrome
* Post-encephalitic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
* Posterior column ataxia
* Posterior column ataxia with retinitis pigmentosa
* Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities - See PHACE syndrome
* Posterior inferior cerebellar artery syndrome - See Wallenberg syndrome
* Posterior laryngeal cleft (PLC) - See Laryngeal cleft
* Posterior polar cataract, 1 - See Cataract, posterior polar, 1
* Posterior polar cataract, 4 - See Cataract, posterior polar, 4
* Posterior thalamic syndrome - See Central post-stroke pain
* Posterior Tibial Nerve Neuralgia - See Tarsal tunnel syndrome
* Posterior urethral valves
* Posterior uveitis
* Posterior valve urethra
* Post-fundoplication syndrome - See Gas bloat syndrome
* Post-infectious arthritis - See Reactive arthritis
* Post-infectious myocarditis
* Post-infectious reactive arthropathy - See Reactive arthritis
* Post-infective polyneuritis - See Guillain-Barre syndrome
* Post-irradiation angiosarcoma of the breast - See Radiation induced angiosarcoma of the breast
* Postmastectomy extremity angiosarcoma - See Stewart Treves syndrome
* Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation - See Zerres Rietschel Majewski syndrome
* Postpartum cardiomyopathy - See Peripartum cardiomyopathy
* Postpartum hypopituitarism - See Sheehan syndrome
* Postpartum panhypopituitarism - See Sheehan syndrome
* Postpartum panhypopituitary syndrome - See Sheehan syndrome
* Postpartum pituitary necrosis - See Sheehan syndrome
* Post-polio muscular atrophy - See Post Polio syndrome
* Post-polio sequelae - See Post Polio syndrome
* Post-poliomyelitic syndrome - See Post Polio syndrome
* Postpoliomyelitis syndrome - See Post Polio syndrome
* Post-Streptococcal Neurologic Disorders
* Post-transplant lymphoproliferative disease
* Post-traumatic epilepsy
* Post-traumatic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
* Postural orthostatic tachycardia syndrome
* Postural tachycardia syndrome - See Postural orthostatic tachycardia syndrome
* Potassium aggravated myotonia
* Potassium and magnesium depletion - See Gitelman syndrome
* Potassium sodium disorder of erythrocyte - See Stomatocytosis I
* Potassium wasting - See Bartter syndrome
* Potassium-sensitive normokalemic periodic paralysis - See Normokalemic periodic paralysis
* Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features - See Andersen-Tawil syndrome
* Potato nose
* Potocki-Lupski syndrome
* Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) - See Potocki-Lupski syndrome
* Potocki-Shaffer syndrome
* POTS - See Postural orthostatic tachycardia syndrome
* Potter sequence - See Potter syndrome
* Potter syndrome
* Potter syndrome type 1
* Potter syndrome type 2
* Potter syndrome type 3
* Potter syndrome type 4
* PPA - See Primary progressive aphasia
* PPAC - See Progressive pseudorheumatoid arthropathy of childhood
* PPB - See Pleuropulmonary blastoma
* PPCA deficiency - See Galactosialidosis
* PPD - See Progressive pseudorheumatoid arthropathy of childhood
* PPH - See Pulmonary arterial hypertension
* PPHP - See Pseudopseudohypoparathyroidism
* PPK diffusa circumscripta - See Unna-Thost palmoplantar keratoderma
* PPK of Sybert - See Palmoplantar keratoderma of Sybert
* PPKB - See Diffuse palmoplantar keratoderma, Bothnian type
* PPKS1 - See Keratosis palmoplantaris striata 1
* PPKS3 - See Keratosis palmoplantaris striata 3
* PPM-X syndrome
* PPNAD - See Primary pigmented nodular adrenocortical disease
* PPOX deficiency - See Variegate porphyria
* PPPP - See Punctate porokeratosis
* PPS - See Popliteal pterygium syndrome
* PPSH - See 5-alpha reductase deficiency
* PPT syndrome - See Pfeiffer Palm Teller syndrome
* PPTID - See Pineal parenchymal tumors of intermediate differentiation
* PPV - See Phacomatosis pigmentovascularis
* PR - See Polymorphic reticulosis
* Prader Labhart Willi syndrome - See Prader-Willi syndrome
* Prader-Willi habitus, osteopenia, and camptodactyly
* Prader-Willi syndrome
* Prata Liberal Goncalves syndrome - See Prata Libéral Gonçalves syndrome
* Prata Libéral Gonçalves syndrome
* PRCA - See Pure red cell aplasia
* PRDS - See Pitt syndrome
*   Preauricular sinus
* Preaxial acrofacial dysostosis - See Nager acrofacial dysostosis
* Preaxial brachydactyly syndrome, Temtamy type - See Temtamy preaxial brachydactyly syndrome
* Preaxial deficiency, postaxial polydactyly and hypospadias
* Preaxial polydactyly 1 - See Polydactyly preaxial type 1
* Preaxial polydactyly 4 - See Polydactyly preaxial type 4
* Preaxial polydactyly type 1 - See Polydactyly preaxial type 1
* Preaxial polydactyly type 4 - See Polydactyly preaxial type 4
* Precalyceal canalicular ectasia - See Medullary sponge kidney
* Precocious epileptic encephalopathy
* Precocious myoclonic encephalopathy
* Precocious puberty
* Precocious puberty with spastic paraplegia - See Spastic paraplegia with precocious puberty
* Precocious puberty, gonadotropin-dependent
* Precocious puberty, male limited - See Testotoxicosis
* Preexcitation syndrome - See Wolff-Parkinson-White syndrome
* Preeyasombat Varavithya syndrome
* Pregnancy related cholestasis - See Intrahepatic cholestasis of pregnancy
* Pregnancy-induced gigantomastia (subtype) - See Gigantomastia
* Prekallikrein deficiency, congenital
* Premature aging Okamoto type
* Premature aging syndrome Penttinen type - See Penttinen-Aula syndrome
* Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay - See Premature aging Okamoto type
* Premature Aging Syndrome, Penttinen type - See Progeroid syndrome, Penttinen type
* Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an
* Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder - See Feigenbaum Bergeron Richardson syndrome
* Premature ovarian failure, familial
* Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms - See Bird headed dwarfism Montreal type
* Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly - See Penttinen-Aula syndrome
* Premolar aplasia, hyperhidrosis, and canities prematura - See Book syndrome
* Prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech - See Wittwer syndrome
* Prepenile scrotum - See Penoscrotal transposition
* Presenile dementia with bone cysts - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Presenile dementia with spastic ataxia - See Dementia familial British
* Presenile dementia, Kraepelin type
* Presenile tremor syndrome - See Essential tremor
* Pretibial epidermolysis bullosa - See Epidermolysis bullosa, pretibial
* Priapism
* Priapism, familial idiopathic - See Priapism
* Prieto syndrome - See Prieto X-linked mental retardation syndrome
* Prieto X-linked mental retardation syndrome
* Prieur Griscelli syndrome - See Chronic Infantile Neurological Cutaneous Articular syndrome
* Primary achalasia - See Achalasia
* Primary acquired cholesteatoma (type) - See Cholesteatoma
* Primary agammaglobulinemia
* Primary AL amyloidosis - See AL amyloidosis
* Primary alcavaria - See Acalvaria
*   Primary aldosteronism - See Primary hyperaldosteronism
* Primary aldosteronism, hypokalemic alkalosis, hypertension and muscle weakness - See Conn's syndrome
* Primary alveolar hypoventilation - See Congenital central hypoventilation syndrome
* Primary amebic meningoencephalitis
* Primary amenorrhoea with coloboma and total agenesis of the corpus callosum - See Calloso-genital dysplasia
* Primary amoebic meningoencephalitis - See Primary amebic meningoencephalitis
* Primary amyloidosis (Formerly) - See AL amyloidosis
* Primary angiitis of the central nervous system
* Primary avascular necrosis of the femoral head - See Familial avascular necrosis of the femoral head
* Primary basilar impression
* Primary biliary cirrhosis
* Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia - See Reynolds syndrome
* Primary cardiac tumors, childhood - See Heart tumor
* Primary carnitine deficiency
* Primary central nervous system vasculitis - See Primary angiitis of the central nervous system
* Primary central sleep apnea - See Idiopathic alveolar hypoventilation syndrome
* Primary ciliary dyskinesia
* Primary CNS melanoma - See Primary melanoma of the central nervous system
* Primary CNS vasculitis - See Primary angiitis of the central nervous system
* Primary congenital glaucoma - See Glaucoma 3 primary infantile B
* Primary congenital glaucoma type 3B - See Glaucoma 3 primary infantile B
* Primary congenital lymphedema - See Milroy disease
* Primary cortisol resistance
* Primary cough headache - See Cough headache
* Primary effusion lymphoma
* Primary erythermalgia - See Erythromelalgia
* Primary Exertional Headache - See Exertional headache
* Primary familial brain calcification - See Familial idiopathic basal ganglia calcification
* Primary gastric lymphoma - See Gastric lymphoma
* Primary gastrointestinal melanoma
* Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation - See Cantalamessa Baldini Ambrosi syndrome
* Primary growth hormone insensitivity - See Laron syndrome
* Primary growth hormone resistance - See Laron syndrome
* Primary headache associated with sexual activity - See Exertional headache
*   Primary hyperaldosteronism
* Primary hyperoxaluria type 1
* Primary hyperoxaluria type 2
* Primary hyperoxaluria type 3
* Primary hypersomnia - See Idiopathic hypersomnolence
* Primary hyperthyroidism - See Hyperparathyroidism, primary
* Primary hypertrophic osteoarthropathy - See Pachydermoperiostosis
* Primary idiopathic cold urticaria - See Cold contact urticaria
* Primary intestinal lymphangiectasis - See Waldmann disease
* Primary lateral sclerosis
* Primary lateral sclerosis, juvenile - See Juvenile primary lateral sclerosis
* Primary localized cutaneous amyloidosis - See Amyloidosis primary cutaneous
* Primary lymphoma, CNS - See Central nervous system lymphoma, primary
* Primary malignant lymphoma
* Primary malignant melanoma of the cervix
* Primary malignant melanoma of the cervix uteri - See Primary malignant melanoma of the cervix
* Primary malignant melanoma of the conjunctiva
* Primary malignant melanoma of the uterine cervix - See Primary malignant melanoma of the cervix
* Primary melanoma of the central nervous system
* Primary melanoma of the CNS - See Primary melanoma of the central nervous system
* Primary membranoproliferative glomerulonephritis - See Membranoproliferative glomerulonephritis
* Primary meningeal melanoma - See Primary melanoma of the central nervous system
* Primary mucoepidermoid cutaneous carcinoma - See Hidradenocarcinoma
* Primary myelofibrosis - See Myelofibrosis
* Primary open angle glaucoma juvenile onset 1
* Primary orbital lymphoma - See Orbital lymphoma
* Primary orthostatic tremor
*   Primary parkinsonism - See Parkinson disease
* Primary pigmented nodular adrenocortical disease
* Primary polycythemia - See Polycythemia vera
* Primary polydipsia - See Dipsogenic diabetes insipidus
* Primary progressive aphasia
* Primary progressive aphasia syndrome - See Primary progressive aphasia
* Primary pulmonary hypertension - See Pulmonary arterial hypertension
* Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet - See Lymphedema and cerebral arteriovenous anomaly
* Primary release disorder of platelets
* Primary sclerosing cholangitis
* Primary systemic AL amyloidosis - See AL amyloidosis
* Primary systemic amyloidosis - See AL amyloidosis
* Primary T-Cell Immunodeficiency Disorders - See T cell immunodeficiency primary
* Primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities - See Weinstein Kliman Scully syndrome
* Primary thrombocythemia - See Essential thrombocythemia
* Primary Toni-Debre-Fanconi syndrome - See Toni-Debre-Fanconi syndrome
* Primary torsion dystonia - See Torsion dystonia
* Primary tubular proximal acidosis
* Primary tumor of the liver - See Liver cancer
* Primary visual agnosia - See Agnosia
* Primative neuroectodermal tumor - See Supratentorial primitive neuroectodermal tumor
* Primitive neuroectodermal tumor (PNET) (type) - See Ewing's family of tumors
* Primitive renal tubule syndrome - See Renal tubular dysgenesis
* Primordial dwarfism - See Isolated growth hormone deficiency type 1A
* Primordial microcephalic dwarfism, Crachami type - See Microcephalic osteodysplastic primordial dwarfism type 1
* Primrose syndrome
* Prinzmetal angina - See Prinzmetal's variant angina
* Prinzmetal's variant angina
* Procarcinoma
* Proconvertin deficiency, congenital
* Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence - See Teebi Naguib Al Awadi syndrome
* Progeria
* Progeria syndrome, childhood-onset, with osteolysis - See Nestor-guillermo progeria syndrome
* Progeria variant syndrome Ruvalcaba type
* Progeria-like syndrome - See Cockayne syndrome
* Progeroid nanism - See Cockayne syndrome
* Progeroid short stature with pigmented nevi
* Progeroid syndrome congenital Petty type - See Progeroid syndrome Petty type
* Progeroid syndrome neonatal - See Neonatal progeroid syndrome
* Progeroid syndrome of De Barsy - See De Barsy syndrome
* Progeroid syndrome Petty type
* Progeroid syndrome, De Barsy type - See De Barsy syndrome
* Progeroid syndrome, Penttinen type
* Prognathism mandibular
* Progressiva symmetrica erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
* Progressive acromelanosis - See Acromelanosis
* Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance - See Vertebral body fusion overgrowth
* Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness - See Schimke X-linked mental retardation syndrome
* Progressive bifocal chorioretinal atrophy
* Progressive black carbon hyperpigmentation of infancy
* Progressive bulbar atrophy - See Progressive bulbar palsy
* Progressive bulbar palsy
* Progressive bulbar paralysis of childhood - See Fazio Londe syndrome
* Progressive cerebral poliodystrophy - See Alpers syndrome
* Progressive cone degeneration - See Retinal cone dystrophy 2
* Progressive deafness with stapes fixation - See Deafness, progressive with stapes fixation
* Progressive diaphyseal dysplasia - See Camurati-Engelmann disease
* Progressive diaphyseal dysplasia with striations of the bones - See Camurati Engelmann disease, type 2
* Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy - See PEHO syndrome
* Progressive external ophthalmoplegia - See Chronic progressive external ophthalmoplegia
* Progressive external ophthalmoplegia with cerebellar ataxia infantile - See Cerebellar ataxia infantile with progressive external ophthalmoplegia
* Progressive extrapyramidal disorder with primary hypogonadism and alopecia - See Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Progressive familial heart block - See Familial progressive cardiac conduction defect
* Progressive familial heart block type 1A
* Progressive familial heart block type 1B
* Progressive familial heart block type 2
* Progressive familial intrahepatic cholestasis - See Cholestasis, progressive familial intrahepatic 1
* Progressive familial intrahepatic cholestasis 2 - See Cholestasis, progressive familial intrahepatic 2
* Progressive familial intrahepatic cholestasis 3 - See Cholestasis, progressive familial intrahepatic 3
* Progressive familial intrahepatic cholestasis 4 - See Cholestasis, progressive familial intrahepatic 4
* Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase - See Cholestasis, progressive familial intrahepatic 3
* Progressive hemifacial atrophy
* Progressive kinking of the hair, acquired
* Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy - See Pontocerebellar hypoplasia type 2
* Progressive multifocal leukoencephalopathy
* Progressive myoclonic epilepsy
* Progressive myoclonic epilepsy 3 - See Epilepsy progressive myoclonic type 3
* Progressive myoclonus epilepsy baltic myoclonic epilepsy - See Unverricht-Lundborg disease
* Progressive myositis ossificans - See Fibrodysplasia ossificans progressiva
* Progressive non-fluent aphasia
* Progressive osseous heteroplasia
* Progressive ossifying myositis - See Fibrodysplasia ossificans progressiva
* Progressive pseudorheumatoid arthropathy of childhood
* Progressive pseudorheumatoid chondrodysplasia - See Progressive pseudorheumatoid arthropathy of childhood
* Progressive pseudorheumatoid dysplasia - See Progressive pseudorheumatoid arthropathy of childhood
* Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss - See Spastic quadriplegia retinitis pigmentosa mental retardation
* Progressive supranuclear palsy
* Progressive supranuclear palsy atypical
* Progressive symmetric erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
* Progressive systemic sclerosis - See Systemic scleroderma
* Progressive systemic sclerosis sine scleroderma - See Sine scleroderma
* Progressive tapetochoroidal dystrophy - See Choroideremia
* Progressive transformation of germinal centers
* Prolactinoma, familial
* Prolapsed mitral valve - See Mitral valve prolapse, familial, X-linked
* Prolerating trichilemmal cyst
* Prolidase deficiency
* Proline hydrogenase deficiency - See Hyperprolinemia
* Proline oxidase deficiency - See Hyperprolinemia
* Prolonged QT interval in EKG and sudden death - See Jervell Lange-Nielsen syndrome
* Prominent glabella microcephaly hypogenitalism - See Mac Dermot Winter syndrome
* PROMM - See Myotonic dystrophy type 2
* Proopiomelanocortin deficiency
* PROP - See Propionic acidemia
* Properdin deficiency
* Properdin deficiency, type 1 - See Properdin deficiency, X-linked
* Properdin deficiency, X-linked
* Properdin P factor deficiency - See Properdin deficiency, X-linked
* Propionic acidemia
* Propionicacidemia - See Propionic acidemia
* Propionyl-CoA carboxylase deficiency - See Propionic acidemia
* Propionyl-CoA carboxylase deficiency - See Propionic acidemia
* Propriospinal myoclonus
* Proptosis, Robin association, clenched hands, and multiple abnormalities - See Sanderson Fraser syndrome
* Prosencephaly cerebellar dysgenesis
* Prosopagnosia, congenital - See Prosopagnosia, hereditary
* Prosopagnosia, developmental - See Prosopagnosia, hereditary
* Prosopagnosia, hereditary
* PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
* Prostate cancer, familial - See Familial prostate cancer
* Prostate cancer, hereditary - See Familial prostate cancer
* Prostatic malacoplakia associated with prostatic abscess
* Prostatic malacoplakia with prostatic and seminal vesicle abscess - See Prostatic malacoplakia associated with prostatic abscess
* Prostatic stromal proliferation of uncertain malignant potential
* Prosthetic joint infection
* Protective protein/Cathepsin A deficiency - See Galactosialidosis
*   Protein C deficiency
* Protein R deficiency
* Protein S deficiency
* Protein surplus myopathy (former name) - See Myofibrillar myopathy
* Protein-losing enteropathy-hepatic fibrosis syndrome - See Congenital disorder of glycosylation type 1B
* Proteodermatan sulfate, defective biosynthesis of - See Ehlers-Danlos syndrome progeroid type
* Proteus like syndrome mental retardation eye defect
* Proteus syndrome
* Proteus-Like syndrome with mental retardation and eye defects - See Cohen Hayden syndrome
* Prothrombin 20210G>A thrombophilia - See Prothrombin thrombophilia
* Prothrombin G20210A thrombophilia - See Prothrombin thrombophilia
* Prothrombin thrombophilia
* Prothrombin-related thrombophilia - See Prothrombin thrombophilia
* Protoplasmic astrocytoma (histologic variant) - See Diffuse astrocytoma
* Protoporphyria
* Protoporphyrinogen oxidase deficiency - See Variegate porphyria
* Proud Levine Carpenter syndrome
* Proud syndrome - See Proud Levine Carpenter syndrome
* Proximal 11p deletion syndrome - See Potocki-Shaffer syndrome
* Proximal 18q- - See Proximal chromosome 18q deletion syndrome
* Proximal 18q deletion - See Proximal chromosome 18q deletion syndrome
* Proximal 18q deletion syndrome - See Proximal chromosome 18q deletion syndrome
* Proximal chromosome 18q deletion syndrome
* Proximal myotonic myopathy - See Myotonic dystrophy type 2
* Proximal spinal muscular atrophy
* Proximal spinal muscular atrophy, type 1 - See Spinal muscular atrophy 1
* Proximal symphalangism - See Cushing's symphalangism
* Proximal tubulopathy, diabetes mellitus and cerebellar ataxia - See Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
* Proximal, smooth fusion of 2-6 cm between the radius and ulna and absent head of the radius - See Radio-ulnar synostosis type 1
* PRP - See Pityriasis rubra pilaris
* PRPP synthetase deficiency - See Phosphoribosylpyrophosphate synthetase deficiency
* PRS - See Prieto X-linked mental retardation syndrome
* PRTS - See Partington X-linked mental retardation syndrome
* Prune belly syndrome
* Prurigo nodularis
* Pruritic urticarial papules and plaques of pregnancy, familial (subtype) - See Pruritic urticarial papules plaques of pregnancy
* Pruritic urticarial papules plaques of pregnancy
* PRV - See Polycythemia vera
* PSACH - See Pseudoachondroplasia
* PSCOO - See Nestor-guillermo progeria syndrome
* PSE - See Photosensitive epilepsy
* PSEK - See Erythrokeratodermia variabilis et progressiva
* Pseudo Gaucher disease - See Gaucher-like disease
* Pseudo pelade of Brocq - See Pseudopelade of Brocq
* Pseudo Pelger anomaly - See Pseudo Pelger-Huet anomaly
* Pseudo Pelger-Huet anomaly
* Pseudo trisomy 13 syndrome - See Pseudotrisomy 13 syndrome
* Pseudo Zellweger syndrome - See D-bifunctional protein deficiency
* Pseudoachondroplasia
* Pseudoachondroplastic dysplasia - See Pseudoachondroplasia
* Pseudoachondroplastic dysplasia 2
* Pseudoachondroplastic spondyloepiphyseal dysplasia - See Pseudoachondroplasia
* Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome - See Pseudoachondroplasia
* Pseudoadrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
* Pseudoainhum
* Pseudoaldosteronism - See Liddle syndrome
* Pseudoaminopterin syndrome
* Pseudo-Angelman syndrome - See 2q23.1 microdeletion syndrome
*   Pseudoangiomatous stromal hyperplasia
*   Pseudoangiomatous stromal hyperplasia of the breast - See Pseudoangiomatous stromal hyperplasia
* Pseudoarylsulfatase A deficiency
*   Pseudobulbar affect
* Pseudocholinesterase deficiency
* Pseudocholinesterase E1 - See Pseudocholinesterase deficiency
* Pseudodiastrophic dwarfism - See Pseudodiastrophic dysplasia
* Pseudodiastrophic dysplasia
* Pseudodiplomyelia - See Split cord malformation
* Pseudoglioma - See Norrie disease
* Pseudoglioma with bone fragility - See Osteoporosis-pseudoglioma syndrome
* Pseudoglycogenosis 2 - See Danon disease
* Pseudogout, familial - See Chondrocalcinosis 2
* Pseudohermaphrodism anorectal anomalies
* Pseudohermaphroditism, nephron disorder and Wilms' tumor - See Denys-Drash syndrome
* Pseudo-Hurler polydystrophy - See Mucolipidosis III alpha/beta
* Pseudohyperkalemia Cardiff
* Pseudohypoaldosteronism type 1 autosomal dominant - See Autosomal dominant pseudohypoaldosteronism type 1
* Pseudohypoaldosteronism type 1 autosomal recessive - See Autosomal recessive pseudohypoaldosteronism type 1
* Pseudohypoaldosteronism type 1, dominant - See Autosomal dominant pseudohypoaldosteronism type 1
* Pseudohypoaldosteronism type 1, recessive - See Autosomal recessive pseudohypoaldosteronism type 1
* Pseudohypoaldosteronism type 2
* Pseudohypoparathyroidism
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1B
* Pseudohypoparathyroidism type 1C
* Pseudohypoparathyroidism type 2
* Pseudoinflammatory fundus dystrophy
* Pseudo-iron-deficiency anemia - See Iron-refractory iron deficiency anemia
* Pseudomarfanism
* Pseudomonas stutzeri infections
* Pseudomongolism
* Pseudomyotonia
* Pseudomyxoma peritonei
* Pseudoneonatal adrenoleukodystrophy
* Pseudo-neonatal adrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
* Pseudoobstruction chronic idiopathic intestinal neuronal type - See Visceral neuropathy familial
* Pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities - See Mungan syndrome
* Pseudoobstruction idiopathic intestinal - See Megaduodenum and/or megacystis
* Pseudopapilledema blepharophimosis hand anomalies
* Pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies - See Pseudopapilledema blepharophimosis hand anomalies
* Pseudopelade of Brocq
* Pseudo-pelade of Brocq - See Pseudopelade of Brocq
* Pseudo-Phlorizin diabetes - See Fanconi Bickel syndrome
* Pseudopolycythaemia
* Pseudopolycythemia - See Pseudopolycythaemia
* Pseudoprogeria syndrome
* Pseudopseudohypoparathyroidism
* Pseudopseudo-Hypoparathyroidism - See Pseudopseudohypoparathyroidism
* Pseudo-Pseudohypoparathyroidism - See Pseudopseudohypoparathyroidism
* Pseudorheumatoid dysplasia progressive, with hypoplastic toes - See Czech dysplasia metatarsal type
* Pseudosciatica - See Piriformis syndrome
* Pseudoterranova infection - See Anisakiasis
* Pseudothalidomide syndrome - See Roberts syndrome
* Pseudo-torch syndrome - See Aicardi-Goutieres syndrome
* Pseudotoxoplasmosis syndrome - See Aicardi-Goutieres syndrome
* Pseudotrisomy 13 syndrome
* Pseudotumor cerebri
* Pseudo-Turner syndrome
* Pseudo-Ullrich-Turner syndrome - See Noonan syndrome
* Pseudovaginal perineoscrotal hypospadias - See 5-alpha reductase deficiency
* Pseudo-Von Willebrand disease
* Pseudoxanthoma elasticum
* Pseudoxanthoma elasticum, dominant form
* Pseudoxanthoma elasticum, forme fruste
* Pseudoxanthoma elasticum, recessive form
* Psittacosis
* PSND - See Post-Streptococcal Neurologic Disorders
*   Psoriasis
* Psoriasis guttate - See Guttate psoriasis
* Psoriatic juvenile idiopathic arthritis
* PSP - See Progressive supranuclear palsy
* PSPUMP - See Prostatic stromal proliferation of uncertain malignant potential
* PSS - See Potocki-Shaffer syndrome
* PSVS - See Patent ductus venosus
* Psychiatric disorders coexisting with burning mouth syndrome - See Burning mouth syndrome type 3
* Psychogenic purpura - See Gardner-Diamond syndrome
* Psychosocial dwarfism - See Abuse dwarfism syndrome
* PTA deficiency - See Plasma thromboplastin antecedent deficiency
* PTC syndrome - See Multiple endocrine neoplasia type 2A
* PTCD - See Pontine tegmental cap dysplasia
* Pterigium Colli
* Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects - See PHAVER syndrome
* Pterygia mental retardation facial dysmorphism - See Pterygia, mental retardation and distinctive craniofacial features
* Pterygia, mental retardation and distinctive craniofacial features
* Pterygium antecubital - See Antecubital pterygium
* Pterygium colli mental retardation digital anomalies
* Pterygium colli syndrome - See Multiple pterygium syndrome Escobar type
* Pterygium of the conjunctiva and cornea
* Pterygium popliteal lethal type - See Popliteal pterygium syndrome lethal type
* Pterygium syndrome - See Multiple pterygium syndrome Escobar type
* Pterygium syndrome multiple lethal type - See Multiple pterygium syndrome lethal type
* Pterygium syndrome multiple X-linked - See Multiple pterygium syndrome X-linked
* Pterygium universale - See Multiple pterygium syndrome Escobar type
* PTGC - See Progressive transformation of germinal centers
* PTGS DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
* PTLAH - See Absent patella
* PTLS - See Potocki-Lupski syndrome
* PTND - See Bjornstad syndrome
* Ptosis coloboma mental retardation
* Ptosis of eyelids with diastasis recti and hip dysplasia - See Carnevale syndrome
* Ptosis strabismus diastasis
* Ptosis strabismus ectopic pupils
* Ptosis vocal cord paralysis - See Tucker syndrome
* Ptosis, ectropion, thin skin, beaked nose - See Jones Hersh Yusk syndrome
* Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism - See Jorgenson Lenz syndrome
* PTR - See Pilomatrixoma
* PTS Deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
* Pubertas Praecox - See Testotoxicosis
* Puberty-induced gigantomastia (subtype) - See Gigantomastia
* Pudendal Neuralgia
* Puertorican infant hypotonia syndrome - See Qazi Markouizos syndrome
* PUJO - See Multicystic renal dysplasia, bilateral
* Pulmonar arteriovenous aneurysm - See Pulmonary arterio-veinous fistula
* Pulmonary agenesis - See Lung agenesis
* Pulmonary agenesis microphthalmi and diaphragmatic defect - See Microphthalmia syndromic 9
* Pulmonary alveolar lipoproteinosis acquired - See Pulmonary alveolar proteinosis acquired
* Pulmonary alveolar microlithiasis
* Pulmonary alveolar proteinosis acquired
* Pulmonary alveolar proteinosis autoimmune - See Pulmonary alveolar proteinosis acquired
* Pulmonary alveolar proteinosis, congenital - See Congenital pulmonary alveolar proteinosis
* Pulmonary aortic stenosis obstructive uropathy - See Kashani Strom Utley syndrome
* Pulmonary aplasia and triphalangia of the thumb - See Manouvrier syndrome
* Pulmonary arterial hypertension
* Pulmonary arterio-veinous fistula
* Pulmonary arteriovenous fistula - See Pulmonary arteriovenous malformation
* Pulmonary arteriovenous fistula - See Pulmonary arterio-veinous fistula
* Pulmonary arteriovenous malformation
* Pulmonary artery agenesis
* Pulmonary artery coming from the aorta
* Pulmonary artery familial dilatation
* Pulmonary artery, isolated unilateral absence of - See Unilateral absence of a pulmonary artery
* Pulmonary atresia with intact ventricular septum
* Pulmonary atresia with ventricular septal defect
* Pulmonary AVM - See Pulmonary arteriovenous malformation
* Pulmonary blastoma - See Pleuropulmonary blastoma
* Pulmonary branches stenosis
* Pulmonary cystic lymphangiectasis - See Congenital pulmonary lymphangiectasia
* Pulmonary dysmaturity syndrome - See Wilson-Mikity syndrome
* Pulmonary edema of mountaineers
* Pulmonary fibrosis - from asbestos exposure - See Asbestosis
* Pulmonary hemosiderosis - See Idiopathic pulmonary hemosiderosis
* Pulmonary hyalinizing granuloma
* Pulmonary hypertension, familial persistent of the newborn - See Alveolar capillary dysplasia
* Pulmonary hypoplasia familial primary
* Pulmonary hypoplasia, hypaoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia - See PAGOD syndrome
* Pulmonary infiltrates with eosinophilia - See Pneumonia, eosinophilic
* Pulmonary renal syndrome - See Goodpasture syndrome
* Pulmonary sequestration
* Pulmonary supravalvular stenosis
* Pulmonary surfactant protein B, deficiency of
* Pulmonary valve stenosis
* Pulmonary valves agenesis
* Pulmonary vein stenosis
* Pulmonary veins stenosis - See Pulmonary vein stenosis
* Pulmonary venoocclusive disease
* Pulmonary venous return anomaly
* Pulmonic stenosis
* Pulmonic stenosis brachytelephalangism and calcification of cartilages - See Keutel syndrome
* Pulmonic stenosis with cafe-au-lait spots - See Watson syndrome
* Pulp stones - See Dentin dysplasia, coronal
* Pulpal dysplasia - See Dentin dysplasia, coronal
* Pulseless disease - See Takayasu arteritis
* Punctate acrokeratoderma freckle like pigmentation
* Punctate inner choroidopathy
* Punctate keratoderma and spastic paralysis - See Venencie Powell Gordon Winkelmann syndrome
* Punctate porokeratosis
* PUPPP - See Pruritic urticarial papules plaques of pregnancy
* Pure autonomic failure
* Pure red cell aplasia
* Puretic syndrome - See Juvenile hyaline fibromatosis
* Purine nucleoside phosphorylase deficiency
*   Purpura simplex
* Purpura, Schonlein-Henoch - See Henoch-Schonlein purpura
* Purpura, thrombotic thrombocytopenic - See Thrombotic thrombocytopenic purpura, acquired
* Purtilo syndrome - See X-linked lymphoproliferative syndrome
* PV - See Polycythemia vera
* PVL - See Periventricular leukomalacia
* PVNH1 - See X-linked periventricular heterotopia
* PVOD - See Pulmonary venoocclusive disease
* PWS - See Prader-Willi syndrome
* PXA - See Pleomorphic xanthoastrocytoma
* PXE - See Pseudoxanthoma elasticum
* PYCD - See Pycnodysostosis
* Pycnodysostosis
* PYGM deficiency - See Glycogen storage disease type 5
* PYKL - See Glycogen storage disease 8
* Pyknoachondrogenesis
* Pyknodysostosis - See Pycnodysostosis
* Pyle disease
* Pyle's disease - See Pyle disease
* Pyoderma gangrenosum
* Pyogenic arthritis, pyoderma gangrenosum and acne
* Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne - See Pyogenic arthritis, pyoderma gangrenosum and acne
*   Pyogenic granuloma
* Pyomyositis
* Pyramidal molars, glaucoma, abnormal upper lip - See Ackerman syndrome
* Pyridoxal 5'-phosphate-dependent epilepsy
* Pyridoxamine 5-prime-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
* Pyridoxine deficiency
* Pyridoxine dependency - See Pyridoxine-dependent epilepsy
* Pyridoxine dependency with seizures - See Pyridoxine-dependent epilepsy
* Pyridoxine refractory sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
* Pyridoxine-5'-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
* Pyridoxine-dependent epilepsy
* Pyridoxine-responsive sideroblastic anemia - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
* Pyriformis syndrome - See Piriformis syndrome
* Pyroglutamic aciduria - See Glutathione synthetase deficiency
* Pyroglutamicaciduria - See Glutathione synthetase deficiency
* Pyropoikilocytosis hereditary
* Pyruvate carboxylase deficiency
* Pyruvate decarboxylase deficiency
* Pyruvate dehydrogenase complex deficiency - See Pyruvate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Pyruvate dehydrogenase phosphatase deficiency
* Pyruvate kinase deficiency
* Pyruvate kinase deficiency of erythrocytes - See Pyruvate kinase deficiency
* Pyruvate kinase deficiency of red cells - See Pyruvate kinase deficiency
* Pyruvate kinase deficiency, liver type
* Pyruvate kinase deficiency, muscle type
* Pythiosis
* Pythium insidiosum infection - See Pythiosis