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Disease Synonyms Description Articles Phenotypes
Plasmodium ovale malaria
Malariaby Plasmodium ovale; Ovale malaria;
A malaria characterized as a relatively mild form ..[+]
Plasmodium vivax malaria
Vivax Malaria; Malaria by Plasmodium vivax;
A malaria that is caused by the protozoan parasite..[+]
Plica syndrome
n_a
Plummer's disease
Plummer disease; Toxic nodular Goiter; Toxic nodul.. [+]
n_a
Poland syndrome
Poland's syndactyly;
A physical disorder that is characterized by missi..[+]
Polyomavirus-associated nephropathy
PVAN; polyomavirus associated nephropathy;
A viral infectious disease has_material_basis_in B..[+]
Pontiac fever
A legionellosis that involves a milder respiratory..[+]
Potocki-Lupski syndrome
17p11.2 microduplication syndrome; chromosome 17p1.. [+]
A chromosomal duplication syndrome characterized b..[+]
Potocki-Shaffer syndrome
11p11.2 deletion; PSS; proximal 11p deletion syndr.. [+]
A syndrome characterized by craniofacial abnormali..[+]
Potter's syndrome
Potter syndrome; Potter sequence;
A renal agenesis characterized by the typical phys..[+]
Powassan encephalitis
A viral infectious disease that results_in inflamm..[+]
Prader-Willi syndrome
Prader Willi syndrome;
A chromosomal disease that is characterized by wea..[+]
Prieto syndrome
Prieto-Badia-Mulas syndrome; X-linked intellectual.. [+]
A syndromic X-linked intellectual disability chara..[+]
Prinzmetal angina
angina inversa; Prinzmetal's angina; Prinzmetal's .. [+]
A coronary artery vasospasm characterized by spasm..[+]
Proteus syndrome
Wiedemann's syndrome;
A PTEN hamartoma tumor syndrome that is characteri..[+]
Pthirus pubis infestation
crabs; Infestation by Phthirus pubis (disorder); P.. [+]
A lice infestation that involves parasitic infesta..[+]
Q fever
Infection due to Coxiella burnetii (disorder); Inf.. [+]
A primary bacterial infectious disease that is a z..[+]
Qazi Markouizos syndrome
Dysharmonic skeletal maturation - muscular fibre d.. [+]
A syndrome that is characterized by hypotonia, con..[+]
Quebec platelet disorder
BDPLT5; platelet-type bleeding disorder 5; factor .. [+]
A blood platelet disease characterized by autosoma..[+]
Queensland tick typhus
Australian tick typhus ; Queensland tick typhus (d.. [+]
A spotted fever that has_material_basis_in Rickett..[+]
RASopathy
RAS/mitogen-activated protein kinase syndrome;
A syndrome that has_material_basis_in mutations in..[+]
8 articles 24 matches
RELA fusion-positive ependymoma
C11orf95 fusion-positive supratentorial ependymoma.. [+]
A supratentorial ependymoma that has_material_basi..[+]
REM sleep behavior disorder
Rapid eye movement sleep behavior disorder ; Rapid.. [+]
A sleep disorder that involves abnormal behavior i..[+]
RIDDLE syndrome
Radiosensitivity-immunodeficiency-dysmorphic featu.. [+]
A syndrome that is characterized by increased radi..[+]
RNASET2-deficient cystic leukoencephalopathy
cystic leukoencephalopathy without megalencephaly;.. [+]
A leukodystrophy that is characterized by non-prog..[+]
Rafiq syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15;
An autosomal recessive intellectual developmental ..[+]
Rapp-Hodgkin syndrome
anhidrotic ectodermal dysplasia with cleft lip/pal.. [+]
An ectodermal dysplasia characterized by abnormal ..[+]
Raynaud disease
Raynaud's disease (disorder); Raynaud's syndrome (.. [+]
A peripheral vascular disease that is characterize..[+]
Raynaud-Claes syndrome
MRX15; MRX49; MRXSRC; X-linked mental retardation .. [+]
A syndromic X-linked intellectual disability chara..[+]
Refsum disease
HMSN type IV; Refsum's disease; Heredopathia atact.. [+]
A lipid metabolic disorder that is characterized b..[+]
Reis-Bucklers corneal dystrophy
anterior limiting membrane dystrophy type I; granu.. [+]
An epithelial-stromal TGFBI dystrophy that is char..[+]
Renpenning syndrome
Sutherland-Haan X-linked mental retardation syndro.. [+]
An intellectual disability that is characterized b..[+]
1 articles 18 matches
Rett syndrome
Rett's disorder; cerebroatrophic hyperammonemia;
A pervasive developmental disease that is characte..[+]
4 articles
Revesz syndrome
DKCA5; Dyskeratosis Congenita, Autosomal Dominant .. [+]
A dyskeratosis congenita that has_material_basis_i..[+]
Reye syndrome
Reye's syndrome;
A syndrome characterized by acute brain damage and..[+]
Rh deficiency syndrome
A hemolytic anemia that is characterized by defici..[+]
Rh isoimmunization
Rh incompatibility affecting management of mother;.. [+]
n_a
Richter's syndrome
Richter syndrome;
n_a
Rickettsia parkeri spotted fever
maculatum infection;
A spotted fever that has_material_basis_in Rickett..[+]
Riedel's fibrosing thyroiditis
Riedel fibrosing thyroiditis;
n_a
Rift Valley fever
A viral infectious disease that results_in infecti..[+]
Riley-Day syndrome
familial dysautonomia; HSAN III; familial autonomi.. [+]
A hereditary sensory neuropathy that is characteri..[+]
Ritscher-Schinzel syndrome
3C syndrome; craniocerebellocardiac dysplasia; CCC.. [+]
A syndrome characterized by craniofacial (prominen..[+]
Ritscher-Schinzel syndrome 1
A Ritscher-Schinzel syndrome that has_material_bas..[+]
Ritscher-Schinzel syndrome 2
A Ritscher-Schinzel syndrome that has_material_bas..[+]
Ritter's disease
Dermatitis exfoliativa neonatorum; Ritter disease;.. [+]
A commensal bacterial infectious disease that is c..[+]
Roberts syndrome
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-P.. [+]
A syndrome characterized by tetraphocomelia, crani..[+]
Robinow syndrome
acral dysostosis with facial and genital abnormali.. [+]
A syndrome characterized by mild to moderate short..[+]
1 articles
Rocky Mountain spotted fever
Brazillian spotted; Choix; Exanthematic typhus of .. [+]
A spotted fever that has_material_basis_in Rickett..[+]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
EPRPDC; RE-PED-WC; Rolandic-type focal motor epile.. [+]
An infancy electroclinical syndrome characterized ..[+]

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