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

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 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 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 onset Crohn's disease - See Pediatric Crohn's disease
• Pediatric T-cell leukemia
• 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 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
• 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 Progressive familial intrahepatic cholestasis-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