Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program P/1 ENGLISH

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





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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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 of Sybert
• Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair - See Cardiomyopathy dilated with woolly hair and keratoderma
• Palmoplantar keratoderma with periodontosis - See Papillon Lefevre syndrome
• Palmoplantar keratoderma, Bothnian type - See Diffuse palmoplantar keratoderma, Bothnian type
• Palmoplantar keratoderma, epidermolytic
• Palmoplantar keratoderma, punctate type 3 - See Acrokeratoelastoidosis of Costa
• 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 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
• 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
• 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 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
• Passos-Bueno syndrome
• 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
• 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 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 type 3 - See Normokalemic periodic paralysis
• Periodic paralysis, potassium-sensitive cardiodysrhythmic type - See Andersen-Tawil syndrome
• Periodic peritonitis - See Familial Mediterranean fever
• Periodic systemic capillary leak syndrome - See Systemic capillary leak syndrome
• 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-nasal hypoplasia-intellectual disability (PNM) syndrome - See Acrodysostosis
• Peripheral fibroblastoma - See Schwannoma
• Peripheral nerve hyperexcitability - See Isaacs' syndrome
• Peripheral neuroectodermal tumor - See Supratentorial primitive neuroectodermal tumor
• 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 Cardiocranial syndrome
• Pfeiffer Kapferer syndrome
• Pfeiffer Mayer syndrome
• Pfeiffer Palm Teller syndrome
• Pfeiffer Rockelein syndrome
• Pfeiffer Singer Zschiesche syndrome - See Cardiocranial syndrome
• Pfeiffer syndrome
• Pfeiffer Tietze Welte syndrome
• Pfeiffer type acrocephalosyndactyly - See Pfeiffer syndrome
• Pfeiffer-Singer-Zschiesche syndrome - See Cardiocranial syndrome
• Pfeiffer-type cardiocranial syndrome - See Cardiocranial syndrome
• PFHB1A - See Progressive familial heart block type 1A
• PFHB1B - See Progressive familial heart block type 1B
• PFHB2 - See Progressive familial heart block type 2
• PFHBII - See Progressive familial heart block type 2
• PFIC1 - See 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 Pick's disease
• Pick's disease
• 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
• Pilo dento ungular dysplasia microcephaly
• Pilocytic astrocytoma
• Pilodental dysplasia with refractive errors
• Pilomatricoma - See Pilomatrixoma
• Pilomatrixoma
• Pilotto syndrome
• Pindborg tumor - See Calcifying Epithelial Odontogenic Tumor
• Pineal 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
• Pineoblastoma, childhood
• 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 hormone deficiency, combined with rigid cervical spine - See Pituitary hormone deficiency, combined 3
• 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 Juvenile polyposis syndrome
• PJI - See Prosthetic joint infection
• PJS - See Peutz-Jeghers syndrome
• PK deficiency - See Pyruvate kinase deficiency
• PKAN - See Pantothenate kinase-associated neurodegeneration
• 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
• Plasmalogens synthesis deficiency isolated
• 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