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Disease Synonyms Description Articles Phenotypes
Pierson syndrome
microcoria-congenital nephrosis syndrome;
An autosomal recessive disease characterized by ne..[+]
Pitt-Hopkins syndrome
A syndrome characterized by intellectual disabilit..[+]
Plasmodium falciparum malaria
Falciparum Malaria; Falciparum malaria (disorder);.. [+]
A malaria described as a severe form of the diseas..[+]
Plasmodium malariae malaria
Malaria by Plasmodium malariae; Quartan Malaria;
A malaria caused by a parasite Plasmodium malariae..[+]
Plasmodium ovale malaria
Malariaby Plasmodium ovale; Ovale malaria;
A malaria characaterized as a relatively mild form..[+]
Plasmodium vivax malaria
Malaria by Plasmodium vivax; Vivax Malaria;
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;
n_a
Pontiac fever
A legionellosis that involves a milder respiratory..[+]
Potocki-Luspski syndrome
17p11.2 microduplication syndrome; chromosome 17p1.. [+]
A chromosomal duplication syndrome characterized b..[+]
Potter's syndrome
Potter sequence; Potter syndrome;
A renal agenesis characterized by the typical phys..[+]
Powassan encephalitis
A viral infectious disease that results_in inflamm..[+]
Prader-Willi syndrome
Prader Willi syndrome;
n_a
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;
n_a
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);
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; factor V Quebec; platelet-type bleeding di.. [+]
An inherited blood coagulation disease characteriz..[+]
Queensland tick typhus
Australian tick typhus ; North Queensland tick typ.. [+]
A spotted fever that has_material_basis_in Rickett..[+]
REM sleep behavior disorder
Rapid eye movement sleep behavior disorder ;
A sleep disorder that involves abnormal behavior i..[+]
RIDDLE syndrome
Radiosensitivity-immunodeficiency-dysmorphic featu.. [+]
An autosomal recessive disease characterized by in..[+]
Rapp-Hodgkin syndrome
anhidrotic ectodermal dysplasia with cleft lip/pal.. [+]
An autosomal dominant disease characterized by abn..[+]
Raynaud disease
Raynaud's disease; Raynaud's disease (disorder); R.. [+]
n_a
Refsum disease
Heredopathia atactica polyneuritiformis; HMSN type.. [+]
n_a
Reis-Bucklers corneal dystrophy
anterior limiting membrane dystrophy type I; corne.. [+]
n_a
Renpenning syndrome
Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked.. [+]
An intellectual disability that is characterized b..[+]
Rett syndrome
cerebroatrophic hyperammonemia; Rett's disorder;
A pervasive developmental disease that is characte..[+]
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
n_a
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 autonomic nervous dysfunction; familial d.. [+]
n_a
Ritscher-Schinzel syndrome
3C syndrome; CCC dysplasia; craniocerebellocardiac.. [+]
A syndrome by craniofacial (prominent occiput and ..[+]
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; Pemphigus neona.. [+]
A commensal bacterial infectious disease that is c..[+]
Roberts syndrome
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-P.. [+]
n_a
Robinow syndrome
acral dysostosis with facial and genital abnormali.. [+]
A syndrome characterized by mild to moderate short..[+]
Rocky Mountain spotted fever
So Paulo fever; Brazillian spotted; Choix; Exanthe.. [+]
A spotted fever that has_material_basis_in Rickett..[+]
Ross River fever
Ross River virus disease;
A viral infectious disease that results_in infecti..[+]
Rothmund-Thomson syndrome
Congenital poikiloderma; Rothmund-Thomson syndrome.. [+]
n_a
Rubinstein-Taybi syndrome
Broad Thumb-Hallux syndrome; proximal chromosome 1.. [+]
An autosomal dominant disease characterized by sho..[+]
SADDAN
SADDAN dysplasia; severe achondroplasia with devel.. [+]
An autosomal dominant disease characterized by sev..[+]

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