P | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

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

• p110 delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency - See PASLI disease
• P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• P450c11b1 deficiency - See 11-beta-hydroxylase deficiency
• PAC - See Gianotti Crosti syndrome
• PAC syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Pachydermoperiostosis
• Pachygyria
• Pachygyria joint contractures facial abnormalities - See Winter Harding Hyde syndrome
• Pachygyria, frontotemporal
• Pachygyria, mental retardation and epilepsy (formerly) - See Pachygyria-intellectual disability-epilepsy syndrome
• Pachygyria-intellectual disability-epilepsy syndrome
• Pachyonychia congenita
• Pachyonychia congenita syndrome - See Pachyonychia congenita
• Pacman dysplasia
• Pacman syndrome - See Pacman dysplasia
• PACNS - See Primary angiitis of the central nervous system
• PACS1-related syndrome
• PAFD - See Acrofacial dysostosis Palagonia type
• Paget disease juvenile type - See Juvenile Paget disease
• Paget disease of bone - not a rare disease
• Paget disease of bone 5, juvenile-onset - See Juvenile Paget disease
• Paget disease of bone, familial
• Paget disease of the breast
• Paget disease, extramammary - See Extramammary Paget disease
• 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
• Pagon-Bird-Detter syndrome - See Anemia sideroblastic and spinocerebellar ataxia
• 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
• PAI1 deficiency - See Plasminogen activator inhibitor type 1 deficiency
• PAI-1 deficiency - See Plasminogen activator inhibitor type 1 deficiency
• PAID syndrome - See Griscelli syndrome type 2
• Paine syndrome
• Painful bladder syndrome - See Interstitial cystitis - not a rare disease
• Painful bruising syndrome - See Gardner-Diamond syndrome
• Painful legs and moving toes syndrome
• Painful ophthalmoplegia - See Tolosa Hunt syndrome
• Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
• Painless legs-moving toes (variant) - See Painful legs and moving toes 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 hyperkeratosis-esophageal carcinoma syndrome - See Tylosis with esophageal cancer
• Palmoplantar keratoderma
• Palmoplantar keratoderma and congenital alopecia, Stevanovic type - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Palmoplantar keratoderma and sensorineural deafness - See Keratoderma palmoplantar deafness
• 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, punctate type 3 - See Acrokeratoelastoidosis of Costa
• Palmoplantar keratoderma-esophageal carcinoma syndrome - See Tylosis with esophageal cancer
• Palmoplantar keratoderma-sclerodactyly syndrome
• Palmoplantar keratoderma-spastic paralysis syndrome - See Keratoderma palmoplantar spastic paralysis
• Palmoplantar pustulosis - See Pustulosis palmaris et plantaris
• 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 cancer - See Pancreatic cancer
• Pancreas carcinoma - See Pancreatic cancer
• 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 cancer
• Pancreatic cancer, childhood
• Pancreatic carcinoma - See Pancreatic cancer
• Pancreatic carcinoma, childhood - See Pancreatic cancer, childhood
• Pancreatic cholera - See WDHA syndrome
• Pancreatic endocrine tumor - See Pancreatic neuroendocrine tumor
• Pancreatic Glucagonoma - See Glucagonoma
• Pancreatic insufficiency and bone marrow dysfunction - See Shwachman-Diamond syndrome
• Pancreatic lipomatosis and duodenal atresia - See Pancreatic lipomatosis duodenal stenosis
• Pancreatic lipomatosis duodenal stenosis
• Pancreatic NET - See Pancreatic neuroendocrine tumor
• Pancreatic neuroendocrine neoplasm - See Pancreatic neuroendocrine tumor
• Pancreatic neuroendocrine tumor
• 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 - See Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
• Panhypopituitarism X-linked
• Panniculitis and localized lipodystrophy (subtype) - See Localized lipodystrophy
• Panniculitis nodular nonsuppurative - See Nodular nonsuppurative panniculitis
• Panostotic fibrous dysplasia
• PANS - See Pediatric acute-onset neuropsychiatric syndrome
• Pantothenate kinase-associated neurodegeneration
• Panuveitis
• PAP - See Autoimmune pulmonary alveolar proteinosis
• PAP acquired - See Autoimmune pulmonary alveolar proteinosis
• 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 glioneuronal tumors
• Papillary renal carcinoma, malignant - (subtype) - See Papillary renal cell carcinoma
• Papillary renal cell adenocarcinoma - 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
• Papillon-Lefèvre syndrome - See Papillon Lefevre syndrome
• Papillorenal syndrome - See Renal coloboma syndrome
• Papular acrodermatitis of childhood - See Gianotti Crosti syndrome
• Papular epidermal nevi with skyline basal cell layers syndrome
• Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - See Papular epidermal nevi with skyline basal cell layers syndrome
• Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS) - See Papular epidermal nevi with skyline basal cell layers syndrome
• Papular mucinosis
• Papular urticaria
• Papulosis atrophican maligna - See Malignant Atrophic Papulosis
• Paracoccidioidal granuloma - See Paracoccidioidomycosis
• Paracoccidioidomycosis
• 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 - not a rare disease
• Paralysis agitans, juvenile, of Hunt
• Paralysis periodica paramyotonica - See Paramyotonia congenita
• 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
• Paraneoplastic opsoclonus-myoclonus - See Opsoclonus-myoclonus syndrome
• Paraneoplastic opsoclonus-myoclonus-ataxia syndrome - See Opsoclonus-myoclonus syndrome
• 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
• Paris-Trousseau syndrome - See Paris-Trousseau thrombocytopenia
• Paris-Trousseau thrombocytopenia
• Park 9 - See Parkinson disease type 9
• PARK14 - See NBIA/DYT/PARK-PLA2G6
• PARK2 - See Autosomal recessive juvenile Parkinson disease
• PARK3 - See Parkinson disease type 3
• Parkes Weber syndrome
• Parkinson disease - not a rare disease
• Parkinson disease 14, autosomal recessive - See NBIA/DYT/PARK-PLA2G6
• 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 diurnal fluctuation - See Autosomal recessive juvenile Parkinson disease
• Parkinsonism, infantile, autosomal recessive - See Tyrosine hydroxylase deficiency
• Parkinsonism-dystonia infantile - See Dopamine transporter deficiency syndrome
• Parkinson's disease - See Parkinson disease - not a rare disease
• Paroxysmal cold hemoglobinuria
• Paroxysmal exercise-induced dystonia - See Paroxysmal exertion-induced dyskinesia
• Paroxysmal exertion-induced dyskinesia
• Paroxysmal extreme pain disorder
• Paroxysmal familial ventricular fibrillation - See Paroxysmal ventricular fibrillation
• Paroxysmal hemicrania
• Paroxysmal kinesigenic choreathetosis - See Paroxysmal kinesigenic choreoathetosis
• Paroxysmal kinesigenic choreoathetosis
• Paroxysmal kinesigenic dyskinesia - See Paroxysmal kinesigenic choreoathetosis
• Paroxysmal nocturnal hemoglobinuria
• Paroxysmal sleep - See Narcolepsy
• Paroxysmal ventricular fibrillation
• Paroxysomal nonkinesigenic dyskinesia
• Parry disease - See Graves disease - not a rare disease
• Parry-Romberg syndrome - See Progressive hemifacial atrophy
• Pars planitis
• Parsonage Turner syndrome
• Partial 11q monosomy syndrome - See Jacobsen syndrome
• 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 antibody deficiency - See Specific antibody deficiency
• 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 duplication of chromosome 1q - See 1q duplications
• Partial duplication of chromosome Xp - See Partial duplication of the short arm of chromosome X
• Partial duplication of the long arm of chromosome 1 - See 1q duplications
• Partial duplication of the short arm of chromosome X
• Partial facial palsy with urinary abnormalities - See Ochoa syndrome
• Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly - See Proteus syndrome
• Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome - See Proteus syndrome
• Partial LCAT deficiency - See Fish-eye disease
• Partial lipodystrophy with Rieger anomaly and short stature - See SHORT syndrome
• 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 pancreatic agenesis - See Agenesis of the dorsal pancreas
• 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 1q duplications
• 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 of chromosome Xp - See Partial duplication of the short arm of chromosome X
• Partial trisomy of chromosome 1q - See 1q duplications
• Partial trisomy of chromosome Xp - See Partial duplication of the short arm of chromosome X
• Partial trisomy of the long arm of chromosome 1 - See 1q duplications
• Partial trisomy of the short arm of chromosome X - See Partial duplication of the short arm of chromosome X
• Partial trisomy Xq - See Chromosome Xq duplication
• Partington syndrome
• Partington X-linked mental retardation syndrome - See Partington 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 syndrome type 2 - See PHACE syndrome
• Pascual-Castroviejo type II syndrome - See PHACE syndrome
• PASH - See Pseudoangiomatous stromal hyperplasia - not a rare disease
• Pashayan syndrome - See Blepharonasofacial malformation syndrome
• PASLI disease
• Pasteurella multocida infection
• Patau syndrome - See Trisomy 13
• Patchy alopecia - See Alopecia areata - not a rare disease
• Patel Bixler syndrome
• Patella aplasia, coxa vara, tarsal synostosis - See Small patella syndrome
• Patella aplasia-hypoplasia - See Absent patella
• 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 14 - See Paternal uniparental disomy of chromosome 14
• Paternal uniparental disomy for chromosome 11(type) - See Uniparental disomy of chromosome 11
• Paternal uniparental disomy of chromosome 14
• 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 - not a rare disease
• 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-Fontaine syndrome
• Patterson-Lowry rhizomelic dysplasia - See Rhizomelic dysplasia Patterson Lowry type
• Patterson's leprechaunoid syndrome - See Patterson pseudoleprechaunism syndrome
• Patterson-Stevenson-Fontaine syndrome
• Patulous Eustachian Tube - not a rare disease
• Pauciarthritis, juvenile - See Pauciarticular onset juvenile idiopathic arthritis
• Pauciarticular chronic arthritis
• Pauciarticular onset juvenile idiopathic arthritis
• Paucicellular mastocytosis - See Telangiectasia macularis eruptive perstans
• Paucity of interlobular bile ducts - See Alagille syndrome
• PAVM - See Pulmonary arteriovenous malformation
• PBA - See Pseudobulbar affect - not a rare disease
• PBC - See Primary biliary cholangitis
• PBCRA - See Progressive bifocal chorioretinal atrophy
• PBD, ZSS - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• PBD-Zellweger spectrum disorder - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• PBD-ZSD - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• PBD-ZSS - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• PBFE deficiency - See D-bifunctional protein deficiency
• PBGD deficiency - See Acute intermittent porphyria
• PBLT - See Diffuse panbronchiolitis
• PBS - See Interstitial cystitis - not a rare disease
• PBT - See Piebaldism
• PC deficiency - See Pyruvate carboxylase deficiency
• PCARP - See Posterior column ataxia with retinitis pigmentosa
• PCBD - See Polycystic bone disease
• PCBD deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• 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
• PCFCL - See Primary cutaneous follicle center lymphoma
• 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
• PCNSL - See Primary central nervous system lymphoma
• PCOS - See Polycystic ovarian syndrome - not a rare disease
• PD - See Prolidase deficiency
• PDA - See Patent ductus arteriosus
• PDA1 - See Patent ductus arteriosus
• PDB - See Paget disease of bone - not a rare disease
• PDC deficiency - See Pyruvate dehydrogenase complex deficiency
• PDD - See Camurati-Engelmann disease
• PDGFRB-associated chronic eosinophilic leukemia
• PDH deficiency - See Pyruvate dehydrogenase complex deficiency
• PDHC - See Pyruvate dehydrogenase complex deficiency
• PDJ - See Autosomal recessive juvenile Parkinson disease
• PDP - See Pachydermoperiostosis
• PDS - See Pendred syndrome
• PDS, defective biosynthesis of - See Spondylodysplastic Ehlers-Danlos syndrome
• 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 Paroxysmal exertion-induced dyskinesia
• Pediatric acute lymphoblastic leukemia - See Childhood acute lymphoblastic leukemia
• Pediatric acute-onset neuropsychiatric syndrome
• Pediatric autoimmune disorders associated with Streptococcus infections - See Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
• Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus - See Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
• Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
• Pediatric Carcinoma of Liver Cell - See Childhood hepatocellular carcinoma
• Pediatric Crohn's disease
• Pediatric Hepatocellular Carcinoma - See Childhood hepatocellular carcinoma
• Pediatric Hepatoma - See Childhood hepatocellular carcinoma
• Pediatric hypertension
• Pediatric Liver Cell Carcinoma - See Childhood hepatocellular carcinoma
• Pediatric MS - See Pediatric multiple sclerosis
• Pediatric multiple sclerosis
• Pediatric Non-Hodgkin Lymphoma - See Childhood Non-Hodgkin Lymphoma
• Pediatric onset Crohn's disease - See Pediatric Crohn's disease
• Pediatric T-cell leukemia
• Pediatric thyroid cancer - See Thyroid cancer, childhood
• Pediatric ulcerative colitis
• pEDS - See Periodontal Ehlers-Danlos syndrome
• Peeling skin disease - See Peeling skin syndrome
• 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 Autosomal dominant leukodystrophy with autonomic disease
• Pelizaeus-Merzbacher-like disease
• 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 - not a rare disease
• 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
• Pena-Shokeir syndrome type 2 - See Cerebro-oculo-facio-skeletal syndrome
• 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 - not a rare disease
• Penis agenesia - See Penis agenesis
• Penis agenesis
• Penoscrotal transposition
• PENS syndrome - See Papular epidermal nevi with skyline basal cell layers syndrome
• 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
• PEPD - See Paroxysmal extreme pain disorder
• 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 - See Polyarteritis nodosa
• Pericardial constriction and growth failure - See Mulibrey Nanism
• Pericarditis arthropathy camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Pericarditis-arthropathy-camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Perifoveal telangiectasis - See Macular telangiectasia type 2 - not a rare disease
• Perihepatitis syndrome - See Fitz-Hugh-Curtis syndrome
• Perihilar cholangiocarcinoma - See Klatskin tumor
• 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
• Perinatally lethal OI - See Osteogenesis imperfecta type II
• Perineural cysts - See Tarlov cysts
• Perineurioma
• 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 - See Tumor necrosis factor receptor-associated periodic syndrome
• Periodic limb movements in sleep - See Restless legs syndrome
• 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
• Periodontal EDS - See Periodontal Ehlers-Danlos syndrome
• Periodontal Ehlers-Danlos syndrome
• Periorificial lentiginosis syndrome - See Peutz-Jeghers syndrome
• Peripapillary choriopathy - See Serpiginous choroiditis
• Peripartum cardiomyopathy
• Peripheral dysostosis - See Dysostosis peripheral
• Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome - See Acrodysostosis
• Peripheral fibroblastoma - See Schwannoma
• Peripheral nerve hyperexcitability - See Isaacs' syndrome
• Peripheral resistance to thyroid hormones
• 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 heterotopia
• Periventricular leukomalacia
• Periventricular nodular heterotopia - See Periventricular heterotopia
• Periventricular nodular heterotopia 1 - See X-linked periventricular heterotopia
• Perlman syndrome
• PERM - See Progressive encephalomyelitis with rigidity and myoclonus
• Permanent diabetes mellitus of infancy - See Permanent neonatal diabetes mellitus
• Permanent neonatal diabetes mellitus
• Pernicious anemia - not a rare disease
• 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
• Peroneal muscular atrophy with pyramidal features, autosomal dominant - See Hereditary motor and sensory neuropathy type 5
• Peroneal nerve, accessory deep - See Accessory deep peroneal nerve
• Peroutka sneeze - See Autosomal dominant compelling helio ophthalmic outburst syndrome
• Peroxidase and phospholipid deficiency in eosinophils - See Eosinophil peroxidase deficiency
• Peroxisomal Acyl-CoA oxidase deficiency - See Pseudoneonatal adrenoleukodystrophy
• Peroxisomal alanine glyoxylate aminotransferase deficiency - See Primary hyperoxaluria type 1
• Peroxisomal beta-oxidation disorder
• Peroxisomal bifunctional enzyme deficiency - See D-bifunctional protein deficiency
• Peroxisomal biogenesis disorders
• Peroxisomal biogenesis disorders, Zellweger syndrome spectrum - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Peroxisomal defects - See Peroxisome disorders - not a rare disease
• Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency - See Rhizomelic chondrodysplasia punctata
• Peroxisomal disease - See Peroxisome disorders - not a rare disease
• Peroxisome biogenesis disorder - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Peroxisome biogenesis disorder spectrum - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Peroxisome biogenesis disorder-Zellweger syndrome spectrum
• Peroxisome diseases - See Peroxisome disorders - not a rare disease
• Peroxisome disorders - not a rare disease
• Perrault syndrome
• PERRS - See Bradyopsia
• Perry syndrome
• Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
• Persistent acantholytic dermatosis - See Grover's disease - not a rare disease
• Persistent genital arousal - See Persistent genital arousal disorder
• Persistent genital arousal disorder
• Persistent hiccups - See Chronic hiccups
• Persistent hyperinsulinemic hypoglycemia of infancy - See Congenital 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 Congenital vertical talus
• PET - See Patulous Eustachian Tube - not a rare disease
• 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 intellectual disability, basal ganglia disease and seizures
• Petty Laxova Wiedemann syndrome - See Progeroid syndrome Petty type
• Peutz Jeghers polyposis - See Peutz-Jeghers syndrome
• Peutz-Jeghers syndrome
• PEXPD - See Paroxysmal extreme pain disorder
• Peyronie disease - not a rare disease
• PF - See Pemphigus foliaceus
• PFAPA - See Periodic fever, aphthous stomatitis, pharyngitis and adenitis
• PFCP - See Primary familial and congenital polycythemia
• 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 Pfeiffer-type cardiocranial syndrome
• Pfeiffer Kapferer syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Palm Teller syndrome
• Pfeiffer Rockelein syndrome
• Pfeiffer Singer Zschiesche syndrome - See Pfeiffer-type cardiocranial syndrome
• Pfeiffer syndrome
• Pfeiffer Tietze Welte syndrome
• Pfeiffer type acrocephalosyndactyly - See Pfeiffer syndrome
• Pfeiffer-Singer-Zschiesche syndrome - See Pfeiffer-type cardiocranial syndrome
• Pfeiffer-type 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 Progressive familial intrahepatic cholestasis 1
• PFIC2 - See Progressive familial intrahepatic cholestasis type 2
• PFIC3 - See Progressive familial intrahepatic cholestasis type 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
• PGA-I - See Autoimmune polyglandular syndrome type 1
• PGA-II - See Autoimmune polyglandular syndrome type 2
• PGA-III - See Autoimmune polyglandular syndrome type 3
• 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
• PGM1-CDG
• PGM1-related congenital disorder of glycosylation - See PGM1-CDG
• PGM3-CDG
• PGM3-related congenital disorder of glycosylation - See PGM3-CDG
• PGS - See Dandy-Walker malformation with intellectual disability, 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
• Phaeohyphomycosis
• 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 exposure
• Phenobarbital embryopathy - See Phenobarbital antenatal exposure
• Phenotypic diarrhea - See Trichohepatoenteric syndrome
• 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 Congenital hyperinsulinism
• Philadelphia-negative chronic myeloid leukemia
• Philippine hemorrhagic fever - See Dengue fever
• PHIP-Related disorder
• Phocomelia
• Phocomelia ectrodactyly deafness sinus arrhythmia
• Phocomelia thrombocytopenia encephalocele and urogenital malformations - See DK phocomelia syndrome
• Phocomelia, Schinzel type - See Al-Awadi-Raas-Rothschild syndrome
• Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome - See Phocomelia ectrodactyly deafness 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
• Phosphoethanolaminuria - See Hypophosphatasia
• Phosphoethanol-aminuria - See Hypophosphatasia
• Phosphoglucomutase 3 deficiency - See PGM3-CDG
• Phosphoglucomutase deficiency type 1 - See PGM1-CDG
• Phosphoglucomutase deficiency type 3 - See PGM3-CDG
• Phosphoglucomutase-1 deficiency - See PGM1-CDG
• Phosphoglycerate kinase 1 deficiency - See Phosphoglycerate kinase deficiency
• Phosphoglycerate kinase deficiency
• Phosphoglycerate mutase deficiency
• Phospholipase A2-associated neurodegeneration - See Infantile neuroaxonal dystrophy
• Phosphomannoisomerase deficiency
• Phosphomannomutase 2 deficiency - See PMM2-CDG (CDG-Ia)
• 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
• Phosphoserine aminotransferase deficiency
• Photic sneeze reflex - See Autosomal dominant compelling helio ophthalmic outburst syndrome
• Photosensitive epilepsy
• 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
• PHSH - See Primary hypomagnesemia with secondary hypocalcemia
• PHTS - See PTEN hamartoma tumor syndrome
• Phyllodes breast tumor - See Phyllodes tumor of the breast
• Phyllodes tumor of the breast
• Phyllodes tumor of the prostate
• Phylloides tumor - See Phyllodes tumor of the breast
• Physiologic anaemic macules - See Bier spots
• Phytanic acid oxidase deficiency - See Refsum disease
• Phytosterolemia - See Sitosterolemia
• PIC - See Punctate inner choroidopathy
• PICA syndrome - See Wallenberg syndrome
• Piccardi-Lassueur-Little syndrome - See Graham-Little-Piccardi-Lassueur syndrome
• Pick disease of the brain - See Behavioral variant of frontotemporal dementia
• Pick's disease - See Behavioral variant of frontotemporal dementia
• Piebald trait neurologic defects - See Telfer Sugar Jaeger syndrome
• Piebaldism
• Piepkorn Karp Hickok syndrome
• Pierquin syndrome - See Dandy-Walker malformation with postaxial polydactyly
• Pierre Marie cerebellar ataxia (formerly) - See Autosomal dominant cerebellar ataxia
• Pierre Robin sequence
• Pierre Robin sequence - congenital heart defect - talipes - See TARP syndrome
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
• Pierre Robin sequence-congenital heart defect-talipes syndrome - See TARP syndrome
• Pierre Robin syndrome - congenital heart defect - talipes - See TARP syndrome
• 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-congenital heart defect-talipes syndrome - See TARP syndrome
• Pierre-Robin syndrome - See Pierre Robin sequence
• Pierson syndrome
• PIGM-CDG - See Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Pigmentary abnormality of the anterior segment of the eye - See Heterochromia iridis - not a rare disease
• 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 - See Late-onset retinal degeneration
• Pigmentary retinopathy-intellectual disability syndrome - See Retinopathy pigmentary mental retardation
• Pigment-dispersion syndrome
• Pigmented dermatofibrosarcoma protuberans - See Bednar tumor
• Pigmented purpura - See Pigmented purpuric dermatosis
• Pigmented purpuric dermatosis
• Pigmented purpuric eruption - See Pigmented purpuric dermatosis
• Pigmented villonodular synovitis
• Pignata Guarino syndrome - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• PIGN-CDG - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
• PIK3CA-associated segmental overgrowth - See PIK3CA-related overgrowth spectrum
• PIK3CA-related overgrowth spectrum
• 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
• Pilocytic astrocytoma
• Pilodental dysplasia with refractive errors
• Pilomatricoma - See Pilomatrixoma
• Pilomatrixoma
• Pilotto syndrome
• Pindborg tumor - See Calcifying Epithelial Odontogenic Tumor
• Pineal Cell Tumor - See Pineal germ cell tumor
• Pineal Cell Tumour - See Pineal germ cell tumor
• Pineal cyst - not a rare disease
• Pineal germ cell tumor
• Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities - See Rabson-Mendenhall syndrome
• Pineal parenchymal tumors of intermediate differentiation
• Pineal region germinoma - See Pineal germ cell tumor
• Pinealocytoma - See Pineocytoma
• Pinealoma - See Pineocytoma
• Pineoblastoma
• Pineocytoma
• Pingelapese blindness - See Achromatopsia 3
• Pinheiro Freire-Maia Miranda syndrome
• Pinhole pupils - See Congenital microcoria
• Pinta
• PIRA - See Reactive arthritis
• Piriformis syndrome
• Pitt Hopkins syndrome - See Pitt-Hopkins syndrome
• Pitt Williams brachydactyly - See Brachydactyly types B and E combined
• Pitt-Hopkins syndrome
• Pitt-Hopkins-like syndrome
• Pitt-Rogers-Danks syndrome - See Wolf-Hirschhorn syndrome
• Pituitary cancer
• Pituitary carcinoma - See Pituitary cancer
• Pituitary corticotroph micro-adenoma - See ACTH-secreting pituitary adenoma
• Pituitary cretinism - See Thyrotropin deficiency, isolated
• Pituitary dependent Cushing syndrome - See ACTH-secreting pituitary adenoma
• Pituitary diabetes insipidus - See Central 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 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 3
• Pituitary hormone deficiency, combined 4
• Pituitary hormone deficiency, combined with or without cerebellar defects - See Pituitary hormone deficiency, combined 4
• Pituitary insufficiency - See Hypopituitarism
• Pituitary lactotrophic adenoma - See Prolactinoma
• Pituitary stalk interruption syndrome
• Pituitary-dependent Cushing syndrome - See ACTH-secreting pituitary adenoma
• Pityriasis lichenoides
• Pityriasis lichenoides chronica
• Pityriasis lichenoides et varioliformis acuta
• Pityriasis rotunda
• Pityriasis rubra pilaris
• Piussan Lenaerts Mathieu syndrome
• PIV3 - See Parainfluenza virus type 3
• PJI - See Prosthetic joint infection
• PJI - See Juvenile polyposis syndrome
• PJS - See Peutz-Jeghers syndrome
• PK deficiency - See Pyruvate kinase deficiency
• PKAN - See Pantothenate kinase-associated neurodegeneration
• PKD - See Polycystic kidney disease - not a rare disease
• PKDTS - See Polycystic kidneys, severe infantile with tuberous sclerosis
• PKDYS - See Dopamine transporter deficiency syndrome
• PKND - See Pycnodysostosis
• PKS - See Pallister-Killian mosaic syndrome
• PKU - See Phenylketonuria
• PKU type 2 - See Dihydropteridine reductase deficiency
• PKWS - See Parkes Weber syndrome
• PLA2G6-related dystonia-parkinsonism - See NBIA/DYT/PARK-PLA2G6
• Placenta Diseases - See Placenta disorder
• Placenta disorder
• Placenta neoplasm - See Trophoblastic tumor placental site
• Placental steroid sulfatase deficiency - See X-linked ichthyosis
• Plagiocephaly
• PLAN - See Infantile neuroaxonal dystrophy
• 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 - See Factor XI deficiency
• Plasmablastic lymphoma
• Plasmablastic multicentric Castleman disease - See Multicentric Castleman Disease
• Plasmacytoma
• Plasminogen activator inhibitor 1 deficiency - See Plasminogen activator inhibitor type 1 deficiency
• 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 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
• Platelet-type bleeding disorder-11 - See Glycoprotein VI deficiency
• Platyspondylic lethal skeletal dysplasia Torrance type
• Platyspondyly with amelogenesis imperfecta - See Verloes Bourguignon syndrome
• PLCA - See Primary cutaneous amyloidosis
• Pleiotropic, autosomal dominant disorder affecting connective tissue - See Storm syndrome
• Pleoconial myopathy with salt craving
• Pleomorphic xanthoastrocytoma
• Pleonosteosis Leri type - See Leri pleonosteosis
• Pleuroparenchymal fibroelastosis
• Pleuropulmonary blastoma
• PLEVA - See Pityriasis lichenoides et varioliformis acuta
• Plexosarcoma
• PLIN1-related familial partial lipodystrophy - See Familial partial lipodystrophy
• PLIN1-related FPLD - See Familial partial lipodystrophy
• 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
• Plummer-Vinson syndrome - See Plummer Vinson syndrome
• Plurimalformative syndrome - See Agnathia-microstomia-synotia
• PMC - See Paramyotonia congenita
• PMCD - See Multicentric Castleman Disease
• PMD - See Pelizaeus-Merzbacher disease
• PMDS - See Persistent Mullerian duct syndrome
• PME type 6 - See GOSR2-related progressive myoclonus ataxia
• PMGX - See Bilateral perisylvian polymicrogyria
• PML - See Progressive multifocal leukoencephalopathy
• PMLD - See Pelizaeus-Merzbacher-like disease
• PMM2-CDG - See PMM2-CDG (CDG-Ia)
• PMM2-CDG (CDG-Ia)
• PMP - See Pseudomyxoma peritonei
• PMP syndrome - See HaNDL syndrome
• PMS - See Polydactyly myopia syndrome
• PMSE Syndrome - See Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• PMV - See Mitral valve prolapse, familial, X-linked
• PND - See Paraneoplastic Neurologic Disorders
• PNDC - See Alpers syndrome
• PNDM - See Permanent neonatal diabetes mellitus
• PNES - See Dissociative seizures
• PNET - See Pancreatic neuroendocrine tumor
• Pneumoconiosis - See Coal worker's pneumoconiosis
• Pneumocystis carinii pneumonia (former) - See Pneumocystis jirovecii pneumonia
• Pneumocystis jirovecii pneumonia
• Pneumocystis pneumonia - See Pneumocystis jirovecii pneumonia
• Pneumocystosis
• Pneumonia caused by Pseudomonas aeruginosa infection
• Pneumonia lipid - See Exogenous lipoid pneumonia
• Pneumonia, eosinophilic
• PNH - See Paroxysmal nocturnal hemoglobinuria
• PNP deficiency - See Purine nucleoside phosphorylase deficiency
• PNPO Deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
• PNPO-related neonatal epileptic encephalopathy - See Pyridoxal 5'-phosphate-dependent epilepsy
• POADS syndrome - See Miller syndrome
• Podder-Tolmie syndrome
• POEMS syndrome
• POFD - See McCune-Albright syndrome
• POH - See Progressive osseous heteroplasia
• Poikiloderma atrophicans and cataract - See Rothmund-Thomson syndrome
• Poikiloderma Congenitale - See Rothmund-Thomson syndrome
• Poikiloderma of Kindler - See Kindler syndrome
• Poikiloderma of Rothmund-Thomson - See Rothmund-Thomson syndrome
• Poikiloderma with neutropenia
• Poikiloderma with neutropenia Clericuzio type - See Poikiloderma with neutropenia
• Poikiloderma, Alopecia, Retrognathism, and Cleft palate - See PARC syndrome
• Poikiloderma, congenital, with bullae, weary type - See Kindler syndrome
• Poikiloderma, hereditary acrokeratotic - See Kindler syndrome
• Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• POIKTMP - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• POIKTMP syndrome - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Pointer syndrome
• POIS - See Postorgasmic illness syndrome
• Pol III disorder - See POLR3-Related Leukodystrophy
• Pol III-related hypomyelinating leukodystrophies - See POLR3-Related Leukodystrophy
• Pol III-related leukodystrophy - See POLR3-Related Leukodystrophy
• Poland anomaly - See Poland syndrome
• Poland sequence - See Poland syndrome
• Poland syndactyly - See Poland syndrome
• Poland syndrome
• Poland's syndrome - See Poland syndrome
• POLD - See Hereditary diffuse leukoencephalopathy with spheroids
• Polio - See Poliomyelitis
• Polio late effects - See Post Polio syndrome
• Poliodystrophia cerebri progressiva - See Alpers syndrome
• Poliomyelitis
• POLIP - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• POLR3-Related Leukodystrophy
• Polyarteritis - See Polyarteritis nodosa
• Polyarteritis nodosa
• Polyarteritis nodosa, childhood-onset - See Adenosine Deaminase 2 deficiency
• Polyarticular juvenile rheumatoid arthritis - See Polyarticular onset juvenile idiopathic arthritis
• Polyarticular onset juvenile idiopathic arthritis
• Polycystic bone disease
• Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia - See Sener syndrome
• Polycystic kidney disease - not a rare disease
• Polycystic kidney disease, adult type - See Autosomal dominant polycystic kidney disease - not a rare disease
• Polycystic kidney disease, infantile type - See Autosomal recessive polycystic kidney disease
• Polycystic kidneys - See Polycystic kidney disease - not a rare disease
• Polycystic kidneys, severe infantile with tuberous sclerosis
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polycystic liver disease
• Polycystic ovarian syndrome - not a rare disease
• Polycystic ovaries urethral sphincter dysfunction - See Fowler's syndrome
• Polycythemia rubra vera - See Polycythemia vera
• Polycythemia vera
• Polycythemia, primary familial and congenital - See Primary familial and congenital polycythemia
• Polydactylia - See Polydactyly
• Polydactylism - See Polydactyly
• Polydactyly
• Polydactyly - cleft lip/palate - psychomotor retardation - See Orofaciodigital syndrome 6
• Polydactyly alopecia seborrheic dermatitis - See Garret Tripp syndrome
• Polydactyly cleft lip palate psychomotor retardation - See Orofaciodigital syndrome 6
• Polydactyly myopia syndrome
• Polydactyly of a biphalangeal thumb - See Preaxial polydactyly type 1
• Polydactyly of a triphalangeal thumb - See Preaxial polydactyly type 2
• Polydactyly of an index finger - See Preaxial polydactyly type 3
• Polydactyly postaxial dental and vertebral
• Polydactyly postaxial with median cleft of upper lip - See Orofaciodigital syndrome 5
• Polydactyly preaxial 1 - See Preaxial polydactyly type 1
• Polydactyly preaxial 4 - See Preaxial polydactyly type 4
• Polydactyly syndrome middle ray duplication
• Polydactyly with absent tibia - See Absence of tibia with polydactyly
• Polydactyly with neonatal chondrodystrophy type 1 - See Short rib-polydactyly syndrome type 1
• Polydactyly with neonatal chondrodystrophy type 2 - See Short rib-polydactyly syndrome, Majewski type
• Polydactyly with neonatal chondrodystrophy type III - See Short rib-polydactyly syndrome type 3
• Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence - See Say-Field-Coldwell syndrome
• Polydactyly, sex reversal, renal hypoplasia, and unilobular lung - See Smith-Lemli-Opitz syndrome
• Polydactyly-cleft lip/palate-psychomotor retardation syndrome - See Orofaciodigital syndrome 6
• Polyembryoma
• Polyendocrinopathy, immune dysfunction and diarrhea x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Polyglandular autoimmune syndrome type 1 - See Autoimmune polyglandular syndrome type 1
• Polyglandular autoimmune syndrome type 3 - See Autoimmune polyglandular syndrome type 3
• Polyglandular autoimmune syndrome, type 2 - See Autoimmune polyglandular syndrome type 2
• Polyglandular deficiency syndrome type 2 - See Autoimmune polyglandular syndrome type 2
• Polyglucosan body disease, adult form - See Adult polyglucosan body disease
• Polyglucosan body neuropathy, adult form - See Adult polyglucosan body disease
• Polygonal cell hepatocellular carcinoma with fibrous stroma - See Fibrolamellar carcinoma
• Polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures - See Fetal akinesia syndrome X-linked
• Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• Polymicrogyria - not a rare disease
• Polymicrogyria, bilateral perisylvian - See Bilateral perisylvian polymicrogyria
• Polymorphic catecholergic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Polymorphic eruption of pregnancy - See Pruritic urticarial papules plaques of pregnancy
• Polymorphic reticulosis
• Polymorphic vitelline macular degeneration - See Best vitelliform macular dystrophy
• Polymorphous low-grade adenocarcinoma
• Polymyositis
• Polynesian bronchiectasis - See Primary ciliary dyskinesia
• Polyneuropathy - intellectual deficit - acromicria - premature menopause - See Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Polyneuropathy hepatosplenomegaly hyperpigmentation - See Tang Hsi Ryu syndrome
• Polyneuropathy organomegaly - See POEMS syndrome
• Polyneuropathy, cataract, deafness syndrome - See Cataract ataxia deafness
• Polyneuropathy, familial recurrent - See Hereditary neuropathy with liability to pressure palsies
• Polyneuropathy, hand defect - See Hamanishi Ueba Tsuji syndrome
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome - See POEMS syndrome
• Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum - See Andermann syndrome
• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
• Polyomavirus allograft nephropathy
• Polyomavirus nephropathy - See BK-virus nephropathy
• Polyomavirus-related transplant nephropathy - See Polyomavirus allograft nephropathy
• Polyosteolysis/hyperostosis syndrome
• Polyostotic fibrous dysplasia - See McCune-Albright syndrome
• Polyostotic osteolytic dysplasia, hereditary expansile
• Polyposis coli and multiple hard and soft tissue tumors - See Gardner syndrome
• Polyposis familial of entire gastrointestinal tract - See Juvenile polyposis syndrome
• Polyposis juvenile intestinal - See Juvenile polyposis syndrome
• Polyposis skin pigmentation alopecia fingernail changes - See Cronkhite-Canada disease
• Polyposis, adenomatous intestinal - See Familial adenomatous polyposis
• Polyposis, hamartomatous intestinal - See Peutz-Jeghers syndrome
• Polyps-and-spots syndrome - See Peutz-Jeghers syndrome
• Polysyndactyly - See Preaxial polydactyly type 4
• Polysyndactyly cardiac malformation
• Polysyndactyly overgrowth syndrome - See Barnicoat Baraitser syndrome
• Polysyndactyly type Haas - See Syndactyly type 4
• Polysyndactyly uncomplicated - See Preaxial polydactyly type 4
• Polysyndactyly with peculiar skull shape - See Greig cephalopolysyndactyly syndrome
• Polysyndactyly, Haas type - See Syndactyly type 4
• Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate - See Acrofrontofacionasal dysostosis syndrome
• POMA syndrome - See Opsoclonus-myoclonus syndrome
• POMC deficiency - See Proopiomelanocortin deficiency
• Pompe disease - See Glycogen storage disease type 2
• Poncet Spiegler cylindroma - See Poncet-Spiegler's cylindroma
• Poncet-Spiegler's cylindroma
• Pontine hemorrhage - not a rare disease
• Pontine tegmental cap dysplasia
• Pontobulbar palsy and neurosensory deafness - See Riboflavin transporter deficiency
• Pontobulbar palsy with deafness - See Riboflavin transporter deficiency
• Pontocerebellar hypoplasia
• Pontocerebellar hypoplasia type 1
• Pontocerebellar hypoplasia type 2
• Pontocerebellar hypoplasia type 3
• Pontocerebellar hypoplasia type 4
• Pontocerebellar hypoplasia type 5
• Pontocerebellar hypoplasia type 6
• Pontocerebellar hypoplasia with anterior horn cell disease - See Pontocerebellar hypoplasia type 1
• Pontocerebellar hypoplasia with infantile spinal muscular atrophy - See Pontocerebellar hypoplasia type 1
• Pontoneocerebellar Hypoplasia
• Poorly differentiated neuroendocrine carcinoma of the bladder - See Small cell carcinoma of the bladder
• Popliteal pterygium syndrome
• Popliteal pterygium syndrome lethal type - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Popliteal pterygium syndrome, Bartsocas-Papas type
• POR deficiency - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Porak and Durante disease - See Osteogenesis imperfecta
• PORC - See Chester porphyria
• Porcelain nails - See Leukonychia totalis
• PORD - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Porencephaly
• Porencephaly cerebellar hypoplasia internal malformations
• Porocarcinoma - See Eccrine porocarcinoma
• Porokeratosis of Mibelli
• Porokeratosis punctata palmaris et plantaris - See Punctate porokeratosis
• Porokeratosis, disseminated superficial actinic 1
• Porokeratosis, disseminated superficial actinic 2
• Porphobilinogen deaminase deficiency - See Acute intermittent porphyria
• Porphyria
• Porphyria cutanea tarda
• Porphyria hepatica coproporphyria - See Hereditary coproporphyria
• Porphyria hepatica II - See Hereditary coproporphyria
• Porphyria variegate - See Variegate porphyria
• Porphyria, Chester type - See Chester porphyria
• Porphyria, congenital erythropoietic - See Congenital erythropoietic porphyria
• Porphyria, hepatic - See Porphyria cutanea tarda
• Porphyria, South African type - See Variegate porphyria
• Porphyria, Swedish type - See Acute intermittent porphyria
• Portal hypertension - not a rare disease
• Portosystemic venous shunt, congenital - See Patent ductus venosus
• Port-wine stain familial multiple - See Nevi flammei, familial multiple
• Positive rheumatoid factor polyarthritis
• Posner-Schlossman syndrome
• Post Finasteride syndrome - See Adverse events of 5-alpha-reductase inhibitors
• Post orgasmic sick syndrome - See Postorgasmic illness syndrome
• Post Polio syndrome
• Postanginal sepsis secondary to orophyngeal infection - See Lemierre syndrome
• Postaxial acrofacial dysostosis (POADS) syndrome - See Miller syndrome
• Postaxial Polydactyly with progressive myopia - See Polydactyly myopia syndrome
• Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - See Culler-Jones syndrome
• Postaxial polydactyly-intellectual disability syndrome - See Oliver syndrome
• Postaxial polydactyly-progressive myopia syndrome - See Polydactyly myopia syndrome
• Post-encephalitic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
• Posterior column ataxia
• Posterior column ataxia with retinitis pigmentosa
• Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities - See PHACE syndrome
• Posterior inferior cerebellar artery syndrome - See Wallenberg syndrome
• Posterior laryngeal cleft (PLC) - See Laryngeal cleft
• Posterior polar cataract, 1 - See Cataract, posterior polar, 1
• Posterior polar cataract, 4 - See Cataract, posterior polar, 4
• Posterior thalamic syndrome (former) - See Central pain syndrome
• Posterior Tibial Nerve Neuralgia - See Tarsal tunnel syndrome
• Posterior urethral valves
• Posterior uveitis
• Post-fundoplication syndrome - See Gas bloat syndrome
• Postinfectious acute necrotizing hemorrhagic encephalopathy - See Infection-induced acute encephalopathy 3
• Post-infectious arthritis - See Reactive arthritis
• Postinfectious myocarditi - See Infectious myocarditis
• Post-infectious myocarditis - See Infectious myocarditis
• Post-infectious reactive arthropathy - See Reactive arthritis
• Post-infective polyneuritis - See Guillain-Barre syndrome
• Post-irradiation angiosarcoma of the breast - See Radiation induced angiosarcoma of the breast
• Postmastectomy extremity angiosarcoma - See Stewart Treves syndrome
• Postnatal progressive microcephaly, seizures, and brain atrophy
• Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation - See Zerres Rietschel Majewski syndrome
• Postorgasmic illness syndrome
• Post-orgasmic illness syndrome - See Postorgasmic illness syndrome
• Postpartum cardiomyopathy - See Peripartum cardiomyopathy
• Postpartum hypopituitarism - See Sheehan syndrome
• Postpartum panhypopituitarism - See Sheehan syndrome
• Postpartum panhypopituitary syndrome - See Sheehan syndrome
• Postpartum pituitary necrosis - See Sheehan syndrome
• Post-polio muscular atrophy - See Post Polio syndrome
• Post-polio sequelae - See Post Polio syndrome
• Postpolio syndrome - See Post Polio syndrome
• Post-poliomyelitic syndrome - See Post Polio syndrome
• Postpoliomyelitis syndrome - See Post Polio syndrome
• Post-Streptococcal Neurologic Disorders
• Post-transplant lymphoproliferative disease
• Post-transplant lymphoproliferative disorder - See Post-transplant lymphoproliferative disease
• Post-traumatic epilepsy
• Post-traumatic Kluver Bucy syndrome (type) - See Kluver Bucy syndrome
• Postural orthostatic tachycardia syndrome - not a rare disease
• Postural orthostatic tachycardia syndrome due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• Postural tachycardia syndrome - See Postural orthostatic tachycardia syndrome - not a rare disease
• Postural tachycardia syndrome due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• POT - See Primary orthostatic tremor
• Potassium aggravated myotonia
• Potassium and magnesium depletion - See Gitelman syndrome
• Potassium sodium disorder of erythrocyte - See Overhydrated hereditary stomatocytosis
• Potassium wasting - See Bartter syndrome
• Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features - See Andersen-Tawil syndrome
• Potato nose
• Potocki-Lupski syndrome
• Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) - See Potocki-Lupski syndrome
• Potocki-Shaffer syndrome
• POTS - See Postural orthostatic tachycardia syndrome - not a rare disease
• POTS due to NET deficiency - See Orthostatic intolerance due to NET deficiency
• Potter sequence
• Potter syndrome - See Potter sequence
• Powell-Venencie-Gordon syndrome - See Keratoderma palmoplantar spastic paralysis
• PPA - See Primary progressive aphasia
• PPAC - See Progressive pseudorheumatoid dysplasia
• PPARG-related familial partial lipodystrophy - See Familial partial lipodystrophy associated with PPARG mutations
• PPARG-related FPLD - See Familial partial lipodystrophy associated with PPARG mutations
• PPB - See Pleuropulmonary blastoma
• PPCA deficiency - See Galactosialidosis
• PPD - See Progressive pseudorheumatoid dysplasia
• PPD1 - See Preaxial polydactyly type 1
• PPD2 - See Preaxial polydactyly type 2
• PPD3 - See Preaxial polydactyly type 3
• PPD4 - See Preaxial polydactyly type 4
• PPH - See Pulmonary arterial hypertension
• PPHP - See Pseudopseudohypoparathyroidism
• PPK diffusa circumscripta - See Unna-Thost palmoplantar keratoderma
• PPKB - See Diffuse palmoplantar keratoderma, Bothnian type
• PPK-CA, Stevanovic type - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• PPKP2 - See Punctate palmoplantar keratoderma type 2
• PPKS1 - See Keratosis palmoplantaris striata 1
• PPKS3 - See Keratosis palmoplantaris striata 3
• PPM-X syndrome
• PPNAD - See Primary pigmented nodular adrenocortical disease
• PPOX deficiency - See Variegate porphyria
• PPP - See Pustulosis palmaris et plantaris
• PPPP - See Punctate porokeratosis
• PPPP - See Punctate palmoplantar keratoderma type 2
• PPS - See Popliteal pterygium syndrome
• PPSH - See 5-alpha reductase deficiency
• PPT syndrome - See Pfeiffer Palm Teller syndrome
• PPTID - See Pineal parenchymal tumors of intermediate differentiation
• PPV - See Phacomatosis pigmentovascularis
• PR - See Polymorphic reticulosis
• Prader-Labhart-Willi syndrome - See Prader-Willi syndrome
• Prader-Willi habitus, osteopenia, and camptodactyly
• Prader-Willi syndrome
• Prader-Willi syndrome due to a point mutation - See Schaaf-Yang syndrome
• Prader-Willi syndrome due to point mutation - See Schaaf-Yang syndrome
• Prader-Willi-like syndrome - See Schaaf-Yang syndrome
• Prata-Liberal-Goncalves syndrome - See Acrodysplasia scoliosis
• PRCA - See Pure red cell aplasia
• Preauricular sinus - not a rare disease
• Preaxial acrofacial dysostosis - See Nager acrofacial dysostosis
• Preaxial brachydactyly syndrome, Temtamy type - See Temtamy preaxial brachydactyly syndrome
• Preaxial deficiency, postaxial polydactyly and hypospadias
• Preaxial polydactyly 1 - See Preaxial polydactyly type 1
• Preaxial polydactyly 4 - See Preaxial polydactyly type 4
• Preaxial polydactyly of fingers - See Polydactyly
• Preaxial polydactyly of hand - See Polydactyly
• Preaxial polydactyly type 1 - See Preaxial polydactyly type 1
• Preaxial polydactyly type 1
• Preaxial polydactyly type 2
• Preaxial polydactyly type 3
• Preaxial polydactyly type 4 - See Preaxial polydactyly type 4
• Preaxial polydactyly type 4
• Precalicial canalicular ectasia - See Medullary sponge kidney
• Precalyceal canalicular ectasia - See Medullary sponge kidney
• Precocious puberty
• Precocious puberty with spastic paraplegia - See Spastic paraplegia with precocious puberty
• Precocious puberty, gonadotropin-dependent
• Precocious puberty, male limited - See Testotoxicosis
• Preexcitation syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Pregnancy related cholestasis - See Intrahepatic cholestasis of pregnancy
• Pregnancy-induced gigantomastia (subtype) - See Gigantomastia
• Pregnancy-related cholestasis - See Intrahepatic cholestasis of pregnancy
• Prekallikrein deficiency, congenital
• Premature aging Okamoto type
• Premature aging syndrome Penttinen type - See Penttinen-Aula syndrome
• Premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay - See Premature aging Okamoto type
• Premature Aging Syndrome, Penttinen type - See Progeroid syndrome, Penttinen type
• Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder - See Feigenbaum Bergeron Richardson syndrome
• Premature ovarian failure 1 - See FMR1-related primary ovarian insufficiency
• Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms - See Microcephalic primordial dwarfism, Montreal type
• Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly - See Penttinen-Aula syndrome
• Premolar aplasia, hyperhidrosis, and canities prematura - See Book syndrome
• Prenatal cocaine exposure - See Cocaine antenatal exposure
• Prepenile scrotum - See Penoscrotal transposition
• Presenile dementia with bone cysts - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Presenile dementia with spastic ataxia - See Dementia familial British
• Presenile dementia, Kraepelin type
• Presenile tremor syndrome - See Essential tremor - not a rare disease
• Presentey anomaly - See Eosinophil peroxidase deficiency
• Pressure-induced localized lipoatrophy (subtype) - See Localized lipodystrophy
• Pretibial DEB - See Pretibial epidermolysis bullosa
• Pretibial dystrophic epidermolysis bullosa - See Pretibial epidermolysis bullosa
• Pretibial epidermolysis bullosa
• Pretzel syndrome - See Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
• Priapism
• Priapism, familial idiopathic - See Priapism
• Prieto syndrome - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• Prieto-Badia-Mulas syndrome - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• Prieur Griscelli syndrome - See Neonatal Onset Multisystem Inflammatory disease
• Primary acalvaria - See Acalvaria
• Primary achalasia - See Idiopathic achalasia
• Primary acquired cholesteatoma (type) - See Cholesteatoma
• Primary acquired sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Primary agammaglobulinemia
• Primary AL amyloidosis - See AL amyloidosis
• Primary aldosteronism - See Primary hyperaldosteronism - not a rare disease
• Primary alveolar hypoventilation - See Congenital central hypoventilation syndrome
• Primary amebic meningoencephalitis
• Primary amenorrhoea with coloboma and total agenesis of the corpus callosum - See Calloso-genital dysplasia
• Primary amoebic meningoencephalitis - See Primary amebic meningoencephalitis
• Primary amyloidosis (Formerly) - See AL amyloidosis
• Primary angiitis of the central nervous system
• Primary antibody deficiency - See Common variable immunodeficiency
• Primary avascular necrosis of the femoral head - See Familial avascular necrosis of the femoral head
• Primary basilar impression
• Primary biliary cholangitis
• Primary Biliary Cirrhosis - See Primary biliary cholangitis
• Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia - See Reynolds syndrome
• Primary blepharospasm - See Benign essential blepharospasm
• Primary bone cancer
• Primary brain lymphoma - See Primary central nervous system lymphoma
• Primary cancer of liver - See Primary liver cancer
• Primary cardiac tumors, childhood - See Heart tumor
• Primary carnitine deficiency
• Primary central nervous system lymphoma
• Primary central nervous system vasculitis - See Primary angiitis of the central nervous system
• Primary central sleep apnea - See Idiopathic alveolar hypoventilation syndrome
• Primary ciliary dyskinesia
• Primary ciliary dyskinesia and situs inversus - See Kartagener syndrome
• Primary ciliary dyskinesia, Kartagener type - See Kartagener syndrome
• Primary CNS lymphoma - See Primary central nervous system lymphoma
• Primary CNS melanoma - See Primary melanoma of the central nervous system
• Primary CNS vasculitis - See Primary angiitis of the central nervous system
• Primary congenital erythrocytosis - See Primary familial and congenital polycythemia
• Primary congenital glaucoma - See Glaucoma 3 primary infantile B
• Primary congenital glaucoma type 3B - See Glaucoma 3 primary infantile B
• Primary congenital lymphedema - See Milroy disease
• Primary cough headache - See Cough headache
• Primary cutaneous amyloidosis
• Primary cutaneous follicle center lymphoma
• Primary Dentatum Atrophy - See Dyssynergia cerebellaris myoclonica
• Primary effusion lymphoma
• Primary erythermalgia - See Erythromelalgia
• Primary erythromelalgia - See Erythromelalgia
• Primary Exertional Headache - See Exertional headache
• Primary familial and congenital polycythemia
• Primary familial brain calcification - See Primary Familial Brain Calcification
• Primary Familial Brain Calcification
• Primary familial polycythemia - See Primary familial and congenital polycythemia
• Primary Fanconi renotubular syndrome - See Primary Fanconi syndrome
• Primary Fanconi syndrome
• Primary gastric lymphoma - See Gastric lymphoma
• primary gastrointestinal melanoma - See Digestive System Melanoma
• Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation - See Cantalamessa Baldini Ambrosi syndrome
• Primary growth hormone insensitivity - See Laron syndrome
• Primary growth hormone resistance - See Laron syndrome
• Primary headache associated with sexual activity - See Exertional headache
• Primary hyperaldosteronism - not a rare disease
• Primary hyperoxaluria type 1
• Primary hyperoxaluria type 2
• Primary hyperoxaluria type 3
• Primary hyperparathyroidism
• Primary hypersomnia - See Idiopathic hypersomnia
• Primary hypertrophic osteoarthropathy - See Pachydermoperiostosis
• Primary hypogammaglobulinemia - See Common variable immunodeficiency
• Primary hypomagnesemia with secondary hypocalcemia
• Primary idiopathic cold urticaria - See Cold urticaria
• Primary ILD specific to childhood - See Children's interstitial lung disease
• Primary interstitial lung disease specific to childhood - See Children's interstitial lung disease
• Primary intestinal lymphangiectasia
• Primary intestinal lymphangiectasis - See Primary intestinal lymphangiectasia
• Primary lateral sclerosis
• Primary lateral sclerosis, juvenile - See Juvenile primary lateral sclerosis
• Primary liver cancer
• Primary Liver Carcinoma - See Primary liver cancer
• Primary localized cutaneous amyloidosis - See Primary cutaneous amyloidosis
• Primary lymphoma, CNS - See Primary central nervous system lymphoma
• Primary macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
• Primary Malignant Liver Neoplasm - See Primary liver cancer
• Primary malignant melanoma of the cervix
• Primary malignant melanoma of the cervix uteri - See Primary malignant melanoma of the cervix
• Primary malignant melanoma of the conjunctiva
• Primary malignant melanoma of the uterine cervix - See Primary malignant melanoma of the cervix
• Primary malignant neoplasm of bone - See Primary bone cancer
• Primary melanoma of the central nervous system
• Primary melanoma of the CNS - See Primary melanoma of the central nervous system
• Primary membranoproliferative glomerulonephritis - See Membranoproliferative glomerulonephritis
• Primary meningeal melanoma - See Primary melanoma of the central nervous system
• Primary mucoepidermoid cutaneous carcinoma - See Hidradenocarcinoma
• Primary myelofibrosis - See Myelofibrosis
• Primary non-essential cutis verticis gyrata - See McDowall syndrome
• Primary open angle glaucoma juvenile onset 1
• Primary orbital lymphoma - See Orbital lymphoma
• Primary orthostatic hypotension
• Primary orthostatic tremor
• Primary parkinsonism - See Parkinson disease - not a rare disease
• Primary pigmented nodular adrenocortical disease
• Primary polycythemia - See Polycythemia vera
• Primary polydipsia - See Dipsogenic diabetes insipidus
• Primary progressive aphasia
• Primary progressive aphasia syndrome - See Primary progressive aphasia
• Primary pulmonary hypertension - See Pulmonary arterial hypertension
• Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet - See Lymphedema and cerebral arteriovenous anomaly
• Primary release disorder of platelets
• Primary sclerosing cholangitis
• Primary spontaneous pneumothorax
• Primary systemic AL amyloidosis - See AL amyloidosis
• Primary systemic amyloidosis - See AL amyloidosis
• Primary T-Cell Immunodeficiency Disorders - See T cell immunodeficiency primary
• Primary thrombocythemia - See Essential thrombocythemia
• Primary tubular proximal acidosis
• Primary tumor of the liver - See Primary liver cancer
• Primary visual agnosia - See Agnosia
• Primitive anophthalmia - See Microphthalmia
• Primitive neuroectodermal tumor (PNET) (type) - See Ewing's family of tumors
• Primitive renal tubule syndrome - See Renal tubular dysgenesis
• Primordial dwarfism - See Isolated growth hormone deficiency type 1A
• Primordial microcephalic dwarfism, Crachami type - See Microcephalic osteodysplastic primordial dwarfism type 1
• Primrose syndrome
• Prinzmetal angina - See Prinzmetal's variant angina
• Prinzmetal's variant angina
• PRLoma - See Prolactinoma
• PRL-secreting pituitary adenoma - See Prolactinoma
• Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence - See Teebi Naguib Al Awadi syndrome
• Progeria
• Progeria syndrome, childhood-onset, with osteolysis - See Nestor-guillermo progeria syndrome
• Progeria-like syndrome - See Cockayne syndrome
• Progeroid nanism - See Cockayne syndrome
• Progeroid short stature with pigmented nevi
• Progeroid syndrome congenital Petty type - See Progeroid syndrome Petty type
• Progeroid syndrome neonatal - See Neonatal progeroid syndrome
• Progeroid syndrome of De Barsy - See De Barsy syndrome
• Progeroid syndrome Petty type
• Progeroid syndrome, De Barsy type - See De Barsy syndrome
• Progeroid syndrome, Penttinen type
• Prognathism mandibular
• Progressiva symmetrica erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
• Progressive acromelanosis - See Acromelanosis
• Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance - See Vertebral body fusion overgrowth
• Progressive bifocal chorioretinal atrophy
• Progressive bulbar atrophy - See Progressive bulbar palsy
• Progressive bulbar palsy
• Progressive bulbar palsy with sensorineural deafness - See Riboflavin transporter deficiency
• Progressive cerebral poliodystrophy - See Alpers syndrome
• Progressive cone degeneration - See Retinal cone dystrophy 2
• Progressive cutaneous systemic scleroderma - See Diffuse cutaneous systemic sclerosis
• Progressive cutaneous systemic sclerosis - See Diffuse cutaneous systemic sclerosis
• Progressive deafness with stapes fixation
• Progressive deforming osteogenesis imperfecta - See Osteogenesis imperfecta type III
• Progressive diaphyseal dysplasia - See Camurati-Engelmann disease
• Progressive diaphyseal dysplasia with striations of the bones - See Camurati Engelmann disease, type 2
• Progressive encephalomyelitis with rigidity and myoclonus
• Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy - See PEHO syndrome
• Progressive epilepsy - intellectual disability, Finnish type - See Northern epilepsy
• Progressive epilepsy-intellectual disability syndrome, Finnish type - See Northern epilepsy
• Progressive external ophthalmoplegia - See Chronic progressive external ophthalmoplegia
• Progressive external ophthalmoplegia and scoliosis - See Horizontal gaze palsy with progressive scoliosis
• Progressive external ophthalmoplegia with cerebellar ataxia infantile - See Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive external ophthalmoplegia, autosomal recessive 1
• Progressive familial heart block - See Familial progressive cardiac conduction defect
• Progressive familial heart block type 1A
• Progressive familial heart block type 1B
• Progressive familial heart block type 2
• Progressive familial intrahepatic cholestasis - See Progressive familial intrahepatic cholestasis 1
• Progressive familial intrahepatic cholestasis 1
• Progressive familial intrahepatic cholestasis 4 - See Cholestasis, progressive familial intrahepatic 4
• Progressive familial intrahepatic cholestasis type 2
• Progressive familial intrahepatic cholestasis type 3
• Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase - See Progressive familial intrahepatic cholestasis type 3
• Progressive hemifacial atrophy
• Progressive isolated segmental anhidrosis - See Harlequin syndrome
• Progressive kinking of the hair, acquired
• Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy - See Pontocerebellar hypoplasia type 2
• Progressive multifocal leukoencephalopathy
• Progressive myoclonic epilepsy
• Progressive myoclonic epilepsy 3 - See Epilepsy progressive myoclonic type 3
• Progressive myoclonic epilepsy type 6 - See GOSR2-related progressive myoclonus ataxia
• Progressive myoclonus ataxia - See Dyssynergia cerebellaris myoclonica
• Progressive myoclonus epilepsy baltic myoclonic epilepsy - See Unverricht-Lundborg disease
• Progressive myoclonus epilepsy type 6 - See GOSR2-related progressive myoclonus ataxia
• Progressive myositis ossificans - See Fibrodysplasia ossificans progressiva
• Progressive non-fluent aphasia
• Progressive osseous heteroplasia
• Progressive ossifying myositis - See Fibrodysplasia ossificans progressiva
• Progressive pigmented purpura - See Pigmented purpuric dermatosis
• Progressive pseudorheumatoid arthropathy of childhood - See Progressive pseudorheumatoid dysplasia
• Progressive pseudorheumatoid chondrodysplasia - See Progressive pseudorheumatoid dysplasia
• Progressive pseudorheumatoid dysplasia
• Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss (formerly) - See Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Progressive supranuclear palsy
• Progressive supranuclear palsy atypical
• Progressive symmetric erythrokeratodermia - See Erythrokeratodermia variabilis et progressiva
• Progressive systemic sclerosis - See Systemic scleroderma
• Progressive systemic sclerosis sine scleroderma - See Limited systemic sclerosis
• Progressive tapetochoroidal dystrophy - See Choroideremia
• Progressive transformation of germinal centers
• Progressively deforming OI - See Osteogenesis imperfecta type III
• Prolactinoma
• Prolactin-Producing Pituitary Gland Adenoma - See Prolactinoma
• Prolactin-secreting pituitary adenoma - See Prolactinoma
• Prolapsed mitral valve - See Mitral valve prolapse, familial, X-linked
• Prolidase deficiency
• Proliferating pilar cyst - See Proliferating trichilemmal cyst
• Proliferating trichilemmal cyst
• Proliferative verrucous leukoplakia
• Proline hydrogenase deficiency - See Hyperprolinemia
• Proline oxidase deficiency - See Hyperprolinemia
• Prolonged electroretinal response suppression - See Bradyopsia
• Prolonged QT interval in EKG and sudden death - See Jervell Lange-Nielsen syndrome
• Prominent glabella microcephaly hypogenitalism - See Mac Dermot Winter syndrome
• PROMM - See Myotonic dystrophy type 2
• Proopiomelanocortin deficiency
• PROP - See Propionic acidemia
• Properdin deficiency
• Properdin deficiency, type 1 - See Properdin deficiency, X-linked
• Properdin deficiency, X-linked
• Properdin P factor deficiency - See Properdin deficiency, X-linked
• Propionic acidemia
• Propionicacidemia - See Propionic acidemia
• Propionyl-CoA carboxylase deficiency - See Propionic acidemia
• Propriospinal myoclonus
• Proptosis, Robin association, clenched hands, and multiple abnormalities - See Sanderson Fraser syndrome
• PROSAPOSIN DEFICIENCY - See Sphingolipidosis
• Prosopagnosia, congenital - See Developmental prosopagnosia
• Prosopagnosia, developmental - See Developmental prosopagnosia
• Prosopagnosia, hereditary - See Developmental prosopagnosia
• PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• Prostate cancer, familial - See Familial prostate cancer
• Prostate cancer, hereditary - See Familial prostate cancer
• Prostatic malacoplakia associated with prostatic abscess
• Prostatic malacoplakia with prostatic and seminal vesicle abscess - See Prostatic malacoplakia associated with prostatic abscess
• Prostatic stromal proliferation of uncertain malignant potential
• Prosthetic joint infection
• Protective protein/Cathepsin A deficiency - See Galactosialidosis
• Protein C deficiency - not a rare disease
• Protein S deficiency
• Protein surplus myopathy (former name) - See Myofibrillar myopathy
• Protein-losing enteropathy-hepatic fibrosis syndrome - See MPI-CDG (CDG-Ib)
• Proteodermatan sulfate, defective biosynthesis of - See Spondylodysplastic Ehlers-Danlos syndrome
• Proteus like syndrome mental retardation eye defect
• Proteus syndrome
• Proteus-like syndrome
• Prothrombin 20210G>A thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin deficiency
• Prothrombin G20210A thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin thrombophilia - See Prothrombin-related thrombophilia
• Prothrombin-related thrombophilia
• Protoplasmic astrocytoma (histologic variant) - See Diffuse astrocytoma
• Protoporphyria
• Protoporphyrinogen oxidase deficiency - See Variegate porphyria
• Proud Levine Carpenter syndrome - See Proud syndrome
• Proud syndrome
• Proximal 11p deletion syndrome - See Potocki-Shaffer syndrome
• Proximal 18q- - See Proximal chromosome 18q deletion syndrome
• Proximal 18q deletion - See Proximal chromosome 18q deletion syndrome
• Proximal 18q deletion syndrome - See Proximal chromosome 18q deletion syndrome
• Proximal chromosome 18q deletion syndrome
• Proximal femoral focal deficiency (subtype) - See Congenital femoral deficiency
• Proximal myopathy with extrapyramidal signs - See Myopathy with extrapyramidal signs
• Proximal myotonic myopathy - See Myotonic dystrophy type 2
• Proximal spinal muscular atrophy
• Proximal spinal muscular atrophy type 1 - See Spinal muscular atrophy 1
• Proximal spinal muscular atrophy, type 1 - See Spinal muscular atrophy 1
• Proximal symphalangism
• Proximal symphalangism - See Proximal symphalangism
• Proximal tubulopathy, diabetes mellitus and cerebellar ataxia - See Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
• Proximal, smooth fusion of 2-6 cm between the radius and ulna and absent head of the radius - See Congenital radioulnar synostosis
• PRPP synthetase deficiency - See Phosphoribosylpyrophosphate synthetase deficiency
• PRS - See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• PRTS - See Partington syndrome
• Prune belly syndrome
• Prurigo nodularis
• Pruritic urticarial papules and plaques of pregnancy, familial (subtype) - See Pruritic urticarial papules plaques of pregnancy
• Pruritic urticarial papules plaques of pregnancy
• PRV - See Polycythemia vera
• PSACH - See Pseudoachondroplasia
• PSAPD - See Sphingolipidosis
• PSAT deficiency - See Phosphoserine aminotransferase deficiency
• PSCOO - See Nestor-guillermo progeria syndrome
• PSE - See Photosensitive epilepsy
• PSEK - See Erythrokeratodermia variabilis et progressiva
• Pseudo Gaucher disease - See Gaucher-like disease
• Pseudo pelade of Brocq - See Pseudopelade of Brocq
• Pseudo Pelger anomaly - See Pseudo Pelger-Huet anomaly
• Pseudo Pelger-Huet anomaly
• Pseudo trisomy 13 syndrome - See Pseudotrisomy 13 syndrome
• Pseudoachondroplasia
• Pseudoachondroplastic dysplasia - See Pseudoachondroplasia
• Pseudoachondroplastic dysplasia 2
• Pseudoachondroplastic spondyloepiphyseal dysplasia - See Pseudoachondroplasia
• Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome - See Pseudoachondroplasia
• Pseudoadrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
• Pseudoainhum
• Pseudoaldosteronism - See Liddle syndrome
• Pseudoaminopterin syndrome
• Pseudo-Angelman syndrome - See 2q23.1 microdeletion syndrome
• Pseudoangiomatous stromal hyperplasia - not a rare disease
• Pseudoangiomatous stromal hyperplasia of the breast - See Pseudoangiomatous stromal hyperplasia - not a rare disease
• Pseudobulbar affect - not a rare disease
• Pseudocholinesterase deficiency
• Pseudocholinesterase E1 - See Pseudocholinesterase deficiency
• Pseudodiastrophic dwarfism - See Pseudodiastrophic dysplasia
• Pseudodiastrophic dysplasia
• Pseudodiplomyelia - See Split spinal cord malformation
• Pseudoglioma - See Norrie disease
• Pseudoglioma with bone fragility - See Osteoporosis-pseudoglioma syndrome
• Pseudoglycogenosis 2 - See Danon disease
• Pseudogout, familial - See Chondrocalcinosis 2
• Pseudohermaphrodism anorectal anomalies
• Pseudohermaphroditism, nephron disorder and Wilms' tumor - See Denys-Drash syndrome
• Pseudo-Hurler polydystrophy - See Mucolipidosis III alpha/beta
• Pseudohyperkalemia Cardiff
• Pseudohypoaldosteronism type 1 autosomal dominant - See Autosomal dominant pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1 autosomal recessive - See Autosomal recessive pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1, dominant - See Autosomal dominant pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 1, recessive - See Autosomal recessive pseudohypoaldosteronism type 1
• Pseudohypoaldosteronism type 2
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B
• Pseudohypoparathyroidism type 1C
• Pseudohypoparathyroidism type 2
• Pseudohypoparathyroidism with Albright hereditary osteodystrophy
• Pseudoinflammatory fundus dystrophy
• Pseudo-iron-deficiency anemia - See Iron-refractory iron deficiency anemia
• Pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis syndrome - See HaNDL syndrome
• Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis - See HaNDL syndrome
• Pseudomonas stutzeri infections
• Pseudo-Morquio syndrome type 2 - See Spondyloepiphyseal dysplasia Maroteaux type
• Pseudomyotonia
• Pseudomyxoma peritonei
• Pseudoneonatal adrenoleukodystrophy
• Pseudo-neonatal adrenoleukodystrophy - See Pseudoneonatal adrenoleukodystrophy
• Pseudoobstruction chronic idiopathic intestinal neuronal type - See Visceral neuropathy familial
• Pseudoobstruction chronic idiopathic intestinal with barrett esophagus and cardiac abnormalities - See Mungan syndrome
• Pseudoobstruction idiopathic intestinal - See Megaduodenum and/or megacystis
• Pseudopapilledema blepharophimosis hand anomalies
• Pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies - See Pseudopapilledema blepharophimosis hand anomalies
• Pseudopelade of Brocq
• Pseudo-pelade of Brocq - See Pseudopelade of Brocq
• Pseudo-Phlorizin diabetes - See Fanconi Bickel syndrome
• Pseudopolycythaemia
• Pseudopolycythemia - See Pseudopolycythaemia
• Pseudoprogeria syndrome
• Pseudopseudohypoparathyroidism
• Pseudopseudo-Hypoparathyroidism - See Pseudopseudohypoparathyroidism
• Pseudo-Pseudohypoparathyroidism - See Pseudopseudohypoparathyroidism
• Pseudorheumatoid dysplasia progressive, with hypoplastic toes - See Czech dysplasia metatarsal type
• Pseudosciatica - See Piriformis syndrome
• Pseudoseizures - See Dissociative seizures
• Pseudoterranova infection - See Anisakiasis
• Pseudothalidomide syndrome - See Roberts syndrome
• Pseudo-TORCH syndrome - See Congenital intrauterine infection-like syndrome
• Pseudotoxoplasmosis syndrome - See Aicardi-Goutieres syndrome
• Pseudotrisomy 13 syndrome
• Pseudotumor cerebri - See Idiopathic intracranial hypertension
• Pseudo-Turner syndrome
• Pseudo-Ullrich-Turner syndrome - See Noonan syndrome
• Pseudovaginal perineoscrotal hypospadias - See 5-alpha reductase deficiency
• Pseudo-Von Willebrand disease
• Pseudoxanthoma elasticum
• Pseudoxanthoma elasticum, forme fruste
• PSIS - See Pituitary stalk interruption syndrome
• Psittacosis
• PSND - See Post-Streptococcal Neurologic Disorders
• Psoriasis - not a rare disease
• Psoriasis 14, pustular - See Generalized pustular psoriasis
• Psoriasis guttate - See Guttate psoriasis
• Psoriasis-related JIA - See Psoriatic juvenile idiopathic arthritis
• Psoriasis-related juvenile idiopathic arthritis - See Psoriatic juvenile idiopathic arthritis
• Psoriatic juvenile idiopathic arthritis
• PSP - See Progressive supranuclear palsy
• PSPUMP - See Prostatic stromal proliferation of uncertain malignant potential
• PSS - See Potocki-Shaffer syndrome
• PSS - See Peeling skin syndrome
• PSVS - See Patent ductus venosus
• Psychogenic nonepileptic seizures - See Dissociative seizures
• Psychogenic purpura - See Gardner-Diamond syndrome
• Psychogenic seizures - See Dissociative seizures
• Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• PTA deficiency - See Factor XI deficiency
• PTC syndrome - See Multiple endocrine neoplasia type 2A
• PTCD - See Pontine tegmental cap dysplasia
• PTEN hamartoma tumor syndrome
• Pterin-4 alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects - SeePHAVER syndrome
• Pterygia mental retardation facial dysmorphism - See Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Pterygium antecubital - See Antecubital pterygium
• Pterygium colli mental retardation digital anomalies
• Pterygium colli syndrome - See Multiple pterygium syndrome Escobar type
• Pterygium of the conjunctiva and cornea
• Pterygium popliteal lethal type - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Pterygium syndrome multiple lethal type - See Multiple pterygium syndrome lethal type
• Pterygium syndrome multiple X-linked - See Multiple pterygium syndrome X-linked
• Pterygium universale - See Multiple pterygium syndrome Escobar type
• PTGC - See Progressive transformation of germinal centers
• PTGS DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• PTLAH - See Absent patella
• PTLD - See Post-transplant lymphoproliferative disease
• PTLS - See Potocki-Lupski syndrome
• PTND - See Bjornstad syndrome
• Ptosis strabismus ectopic pupils
• Ptosis vocal cord paralysis - See Tucker syndrome
• Ptosis, ectropion, thin skin, beaked nose - See Jones Hersh Yusk syndrome
• Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism - See Jorgenson Lenz syndrome
• PTR - See Pilomatrixoma
• PTS Deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
• Pubertas Praecox - See Testotoxicosis
• Puberty-induced gigantomastia (subtype) - See Gigantomastia
• Pudendal Neuralgia
• Puertorican infant hypotonia syndrome - See Qazi Markouizos syndrome
• PUJO - See Multicystic renal dysplasia, bilateral
• Pulmonar arteriovenous aneurysm - See Pulmonary arterio-veinous fistula
• Pulmonary agenesis - See Lung agenesis
• Pulmonary agenesis microphthalmi and diaphragmatic defect - See Microphthalmia syndromic 9
• Pulmonary aluminosis - See Aluminosis
• Pulmonary alveolar lipoproteinosis acquired - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar microlithiasis
• Pulmonary alveolar proteinosis acquired - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar proteinosis autoimmune - See Autoimmune pulmonary alveolar proteinosis
• Pulmonary alveolar proteinosis, congenital - See Congenital pulmonary alveolar proteinosis
• Pulmonary aortic stenosis obstructive uropathy - See Kashani Strom Utley syndrome
• Pulmonary aplasia and triphalangia of the thumb - See Manouvrier syndrome
• Pulmonary arterial hypertension
• Pulmonary arterio-veinous fistula
• Pulmonary arteriovenous fistula - See Pulmonary arterio-veinous fistula
• Pulmonary arteriovenous fistula - See Pulmonary arteriovenous malformation
• Pulmonary arteriovenous malformation
• Pulmonary artery agenesis
• Pulmonary artery coming from the aorta
• Pulmonary artery familial dilatation
• Pulmonary artery, isolated unilateral absence of - See Unilateral absence of a pulmonary artery
• Pulmonary atresia with intact ventricular septum
• Pulmonary atresia with ventricular septal defect
• Pulmonary AVM - See Pulmonary arteriovenous malformation
• Pulmonary blastoma - See Pleuropulmonary blastoma
• Pulmonary cystic lymphangiectasis - See Congenital pulmonary lymphangiectasia
• Pulmonary dysmaturity syndrome - See Wilson-Mikity syndrome
• Pulmonary edema of mountaineers
• Pulmonary fibrosis - from asbestos exposure - See Asbestosis
• Pulmonary hemosiderosis - See Idiopathic pulmonary hemosiderosis
• Pulmonary hyalinizing granuloma
• Pulmonary hypertension, familial persistent of the newborn - See Alveolar capillary dysplasia
• Pulmonary hypoplasia, familial primary
• Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia - See PAGOD syndrome
• Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome - See PAGOD syndrome
• Pulmonary infiltrates with eosinophilia - See Pneumonia, eosinophilic
• Pulmonary non-tuberculous mycobacterial infection - See Nontuberculous mycobacterial lung disease
• Pulmonary renal syndrome - See Goodpasture syndrome
• Pulmonary sequestration
• Pulmonary supravalvular stenosis
• Pulmonary surfactant protein B, deficiency of
• Pulmonary valve stenosis
• Pulmonary valves agenesis
• Pulmonary vein stenosis
• Pulmonary veins stenosis - See Pulmonary vein stenosis
• Pulmonary venoocclusive disease
• Pulmonary venous return anomaly
• Pulmonic stenosis
• Pulmonic stenosis brachytelephalangism and calcification of cartilages - See Keutel syndrome
• Pulp stones - See Dentin dysplasia, coronal
• Pulpal dysplasia - See Dentin dysplasia, coronal
• Pulseless disease - See Takayasu arteritis
• Punctate inner choroiditis - See Punctate inner choroidopathy
• Punctate inner choroidopathy
• Punctate palmoplantar hyperkeratosis type 2 - See Punctate palmoplantar keratoderma type 2
• Punctate palmoplantar keratoderma type 1 - See Punctate palmoplantar keratoderma type I
• Punctate palmoplantar keratoderma type 2
• Punctate palmoplantar keratoderma type I
• Punctate palmoplantar keratoderma with or without ectopic calcification - See Cole disease
• Punctate porokeratosis
• PUPPP - See Pruritic urticarial papules plaques of pregnancy
• PURA syndrome
• PURA-related neurodevelopmental disorder - See PURA syndrome
• Pure autonomic failure
• Pure red cell aplasia
• Puretic syndrome - See Hyaline fibromatosis syndrome
• Purine nucleoside phosphorylase deficiency
• Purpura simplex - not a rare disease
• Purpura, Schonlein-Henoch - See Henoch-Schonlein purpura
• Purpura, thrombotic thrombocytopenic - See Thrombotic thrombocytopenic purpura, acquired
• Purtilo syndrome - See X-linked lymphoproliferative syndrome
• Pustular psoriasis
• Pustulosis palmaris et plantaris
• Pustulosis subcornealis - See Subcorneal pustular dermatosis
• PV - See Polycythemia vera
• PVL - See Periventricular leukomalacia
• PVNH - See Periventricular heterotopia
• PVNH1 - See X-linked periventricular heterotopia
• PVOD - See Pulmonary venoocclusive disease
• PWS - See Prader-Willi syndrome
• PWS due to a point mutation - See Schaaf-Yang syndrome
• PWS due to point mutation - See Schaaf-Yang syndrome
• PXA - See Pleomorphic xanthoastrocytoma
• PXE - See Pseudoxanthoma elasticum
• PYCD - See Pycnodysostosis
• Pycnodysostosis
• PYGM deficiency - See Glycogen storage disease type 5
• PYKL - See Glycogen storage disease 8
• Pyknoachondrogenesis
• Pyknodysostosis - See Pycnodysostosis
• Pyle disease
• Pyle's disease - See Pyle disease
• Pyoderma gangrenosum
• Pyogenic arthritis, pyoderma gangrenosum and acne
• Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne - See Pyogenic arthritis, pyoderma gangrenosum and acne
• Pyogenic bacterial infections due to MyD88 deficiency - See MYD88 deficiency
• Pyogenic granuloma - not a rare disease
• Pyomyositis
• Pyramidal molars-abnormal upper lip syndrome
• Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxamine 5-prime-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine deficiency
• Pyridoxine dependency - See Pyridoxine-dependent epilepsy
• Pyridoxine dependency with seizures - See Pyridoxine-dependent epilepsy
• Pyridoxine refractory sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Pyridoxine-5'-phosphate oxidase deficiency - See Pyridoxal 5'-phosphate-dependent epilepsy
• Pyridoxine-dependent epilepsy
• Pyridoxine-responsive sideroblastic anemia - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Pyriformis syndrome - See Piriformis syndrome
• Pyroglutamic aciduria - See Glutathione synthetase deficiency
• Pyroglutamicaciduria - See Glutathione synthetase deficiency
• Pyropoikilocytosis hereditary
• Pyruvate carboxylase deficiency
• Pyruvate decarboxylase deficiency
• Pyruvate dehydrogenase complex deficiency
• Pyruvate dehydrogenase deficiency - See Pyruvate dehydrogenase complex deficiency
• Pyruvate dehydrogenase E3 deficiency - See Dihydrolipoamide dehydrogenase deficiency
• Pyruvate dehydrogenase lipoic acid synthetase deficiency - See Lipoic acid synthetase deficiency
• Pyruvate dehydrogenase phosphatase deficiency
• Pyruvate kinase deficiency
• Pyruvate kinase deficiency of erythrocytes - See Pyruvate kinase deficiency
• Pyruvate kinase deficiency of red cells - See Pyruvate kinase deficiency
• Pyruvate kinase deficiency, liver type
• Pythiosis
• Pythium insidiosum infection - See Pythiosis