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Rare Disease Database

Search Results for: P

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Also known as: Pachydermoperiostosis Syndrome, Rosenfeld-Kloepfer syndrome, Touraine-Solente-Gole Syndrome

Pallister Killian Mosaic Syndrome

Also known as: chromosome 12, Isochromosome 12p syndrome, Killian syndrome, Killian Teschler-Nicola syndrome, Pallister mosaic syndrome, Teschler-Nicola Killian syndrome, PKS, isochromosome 12p syndrome, tetrasomy 12p, mosaic

Pallister-Hall Syndrome

Also known as: CAVE (cerebro-acro-visceral early lethality) complex, congenital hypothalamic hamartoblastoma syndrome, Hall-Pallister syndrome, PHS

Palmoplantar Pustulosis

Also known as: pustulosis palmaris et plantaris, PPP, localized pustular psoriasis (LPP), palmoplantar pustular psoriasis

Panniculitis, Idiopathic Nodular

Also known as: Nodular Nonsuppurative Panniculitis, Pfeiffer-Weber-Christian syndrome, Relapsing Febrile Nodular Nonsuppurative Panniculitis, Weber Christian Disease (so-called)

Pantothenate Kinase-Associated Neurodegeneration

Also known as: Hallervorden-Spatz Syndrome, HARP, HSS, NBIA1, neurodegeneration with brain iron accumulation type 1, Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus, PKAN


Also known as: Lobo Disease, Lutz-Splendore-Almeida Disease, Paracoccidioidal Granuloma, PCM, South American Blastomycosis

Paramyotonia Congenita

Also known as: Eulenburg disease, paralysis periodica paramyotonica, paramyotonia congenita of von Eulenburg, PMC, Von Eulenburg's disease

Paroxysmal Cold Hemoglobinuria

Also known as: Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, immune hemolytic anemia, paroxysmal cold, PCH

Parry Romberg Syndrome

Also known as: hemifacial atrophy (HFA), progressive facial hemiatrophy, progressive hemifacial atrophy, PRS, Romberg syndrome

Pars Planitis

Also known as: Intermediate Uveitis (UI), Peripheral Retinal Inflammation, PP, Vitritis

Parsonage Turner Syndrome

Also known as: acute brachial neuritis, brachial neuritis, brachial plexus neuritis, brachial plexus neuropathy, idiopathic brachial plexus neuropathy, neuralgic amyotrophy, PTS

Peeling Skin Syndrome

Also known as: deciduous skin, familial continuous skin peeling, skin peeling syndrome, exfoliative ichthyosis, PSS

Penta X Syndrome

Also known as: 49, XXXXX chromosome constitution, 49, XXXXX karyotype, 49, XXXXX syndrome, pentasomy X, XXXXX syndrome


Also known as: chilblains, cold induced vascular disease, erythema, pernio, pernio

Pfeiffer Syndrome

Also known as: acrocephalosyndactyly, type V, ACSV, craniofacial-skeletal-dermatologic syndrome, Noack syndrome

PHACE Syndrome

Also known as: Pascual-Castroviejo type II syndrome, PHACE association, PHACES association, PHACES syndrome


Also known as: classical phenylketonuria, hyperphenylalanemia, phenylalanine hydroxylase deficiency, phenylalaninemia, PKU


Also known as: adrenal paraganglioma, chromaffin cell tumor, paraganglioma


Also known as: Azul, Carate, Empeines, Lota, Mal del Pinto, Tina

Pityriasis Rubra Pilaris

Also known as: Devergie disease, lichen ruber acuminatus, PRP, lichen acuminatus, pityriasis rubra pilaire (Fr.), lichen ruber pilaris

PLA2G6-Associated Neurodegeneration

Also known as: PLAN, neurodegeneration with brain iron accumulation 2A (NBIA2A), infantile neuroanonal dystrophy (INAD), formerly, Seitelberger disease, Karak syndrome


Also known as: Black Death, La Peste, pestilential fever

Pleuropulmonary Blastoma

Also known as: cystic mesenchymal hamartoma, mesenchymal cystic hamartoma, pneumoblastoma, PPB, pulmonary rhabdomyosarcoma, rhabdomyosarcoma in lung cyst, CPAM/CCAM type 4


Also known as: carbohydrate-deficient glycoprotein syndrome, type Ia, CDG1A, CDGS Type Ia, congenital disorder of glycosylation type Ia, Jaeken syndrome

Pneumocystis Pneumonia

Also known as: pneumocystis jirovecii pneumonia , PJP, PCP, PCP pneumonia, pneumocystic carini pneumonia

POEMS Syndrome

Also known as: Crow-Fukase syndrome, osteosclerotic myeloma, PEP syndrome, polyneuropathy-organomegaly-endocrinopathy-M protein-skin lesions, Shimpo syndrome, Takatsuki syndrome

Poland Syndrome

Also known as: Poland Anomaly, Poland Sequence, Poland Syndactyly, Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand

Polyarteritis Nodosa

Also known as: PAN, Periarteritis, Periarteritis nodosa, Polyarteritis, Polyarteritis nodosa

Polycystic Liver Disease

Also known as: isolated polycystic liver disease, autosomal dominant polycystic liver disease (ADPLD), PCLD, PLD

Polycythemia Vera

Also known as: erythremia, Osler-Vaquez disease, polycythemia rubra vera, primary polycythemia, splenomegalic polycythemia, Vaquez-Osler disease

Polymorphous Low-Grade Adenocarcinoma

Also known as: Lobular Carcinoma of the Minor Salivary Glands, Low-Grade Papillary Carcinoma of the Palate, Pleomorphic Adenoma, PLGA, Terminal Duct Carcinoma

Pompe Disease

Also known as: glycogen storage disease type II (GSD II), acid maltase deficiency (AMD), acid alpha-glucosidase (GAA) deficiency

Pontocerebellar Hypoplasia

Also known as: arginyl-tRNA synthetase 2 (RARS2), cerebellar atrophy with progressive microcephaly, (CLAM), encephalopathy, fatal infantile, with olivopontocerebellar hyperplasia, fetal-onset olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, fetal-onset, PCH with optic atrophy, pontocerebellar hypoplasia, type 1 (PCH1), pontocerebellar hypoplasia, type 2A (PCH2A), pontocerebellar hypoplasia, type 2B (PCH2B), pontocerebellar hypoplasia, type 2C (PCH2C), pontocerebellar hypoplasia, type 3 (PCH3), pontocerebellar hypoplasia, type 4 (PCH4), pontocerebellar hypoplasia, type 5 (PCH 5), pontocerebellar hypoplasia, type 6 (PCH6), pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia with progressive cerebral atrophy, volendam neurodegenerative disease

Post Polio Syndrome

Also known as: Polio, Late Effects, Post-Polio Muscular Atrophy, Postpoliomyelitis syndrome, Post-Polio Sequelae

Primary Gastric Lymphoma

Also known as: non-Hodgkin gastric lymphoma, primary Hodgkin's lymphoma of the stomach, stomach lymphoma, non-Hodgkins type

Primary Myelofibrosis

Also known as: agnogenic myeloid metaplasia (AMM), chronic idiopathic myelofibrosis (CIMF), idiopathic myelofibrosis, IM, myelofibrosis with myeloid metaplasia, PMF

Primary Visual Agnosia

Also known as: agnosis, primary, apperceptive agnosia, associative agnosia, monomodal visual amnesia, visual amnesia


Also known as: Antibiotic-Induced Proctitis, Gonorrheal Proctitis, Herpetic Proctitis, Ischemic Proctitis, Radiation Proctitis, Syphilitic Proctitis

Progressive Myoclonus Epilepsy

Also known as: Epilepsy, Myoclonic Progressive Familial, Myoclonic Epilepsy, Myoclonic Progressive Familial Epilepsy, Myoclonus Epilepsy, Progressive Familial Myoclonic Epilepsy


Also known as: amenorrhea-galactorrhea, nonpuerperal, Forbes-Albright syndrome, galactorrhea-amenorrhea syndrome, nonpuerperal galactorrhea

Propionic Acidemia

Also known as: propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic acidemia, PCCB-related propionic acidemia

Protein C Deficiency

Also known as: Hereditary thrombophilia due to protein C deficiency, PROC deficiency

Prune Belly Syndrome

Also known as: Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Deficiency of abdominal musculature, Eagle-Barrett Syndrome, Obrinsky Syndrome, Triad syndrome

Prurigo Nodularis

Also known as: prurigo nodularis of Hyde, nodular prurigo, Picker's nodules , atypical nodular form of neurodermatitis circumscripta, lichen corneus obtusus

Pseudocholinesterase Deficiency

Also known as: Apnea, Postanesthetic, Butyrylcholinesterase, Cholinesterase II Deficiency, Pseudocholinesterase E1, Succinylcholine Sensitivity, Suxamethonium Sensitivity

Pseudomyxoma Peritonei

Also known as: low grade appendiceal mucinous neoplasm (LAMN), colloid carcinoma, disseminated peritoneal adenomucinosis (DPAM), malignant appendiceal tumor, malignant large bowel cystadenocarcinoma, malignant large bowel peritoneal carcinomatosis, malignant large bowel tumor, mucinous cyst adenocarcinoma, mucinous cystadenoma, peritoneal carcinomatosis, peritoneal mucinous carcinomatosis (PMCA), PMP, pseudomyxoma ovarii

Pulmonary Arterial Hypertension

Also known as: FPAH, HPAH, idiopathic pulmonary arterial hypertension, IPAH, PAH, precapillary pulmonary hypertension, primary obliterative pulmonary vascular disease, primary pulmonary hypertension, associated pulmonary arterial hypertension, APAH

Pyruvate Dehydrogenase Complex Deficiency

Also known as: intermittent ataxia with pyruvate dehydrogenase deficiency, lactic and pyruvate acidemia with carbohydrate sensitivity, lactic and pyruvate acidemia with episodic ataxia and weakness, PDH deficiency