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Disease	Synonyms	Description
Pierson syndrome	microcoria-congenital nephrosis syndrome;	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. [-]
Pitt-Hopkins syndrome		A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. [-]
Plasmodium falciparum malaria	Falciparum Malaria; Falciparum malaria (disorder);.. [+] Falciparum Malaria; Falciparum malaria (disorder); Falciparum malaria [malignant tertian]; Malaria fever, subtertian; malignant tertian fever (finding); Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder); [-]	A malaria described as a severe form of the diseas..[+] A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. [-]
Plasmodium malariae malaria	Malaria by Plasmodium malariae; Quartan Malaria;	A malaria caused by a parasite Plasmodium malariae..[+] A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. [-]
Plasmodium ovale malaria	Malariaby Plasmodium ovale; Ovale malaria;	A malaria characaterized as a relatively mild form..[+] A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. [-]
Plasmodium vivax malaria	Malaria by Plasmodium vivax; Vivax Malaria;	A malaria that is caused by the protozoan parasite..[+] A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. [-]
Plica syndrome		n_a
Plummer's disease	Plummer disease; Toxic nodular Goiter; Toxic nodul.. [+] Plummer disease; Toxic nodular Goiter; Toxic nodular goiter (disorder); Toxic nodular goiter NOS (disorder); Toxic nodular goiter unspecified (disorder); toxic nodular goiter; [-]	n_a
Poland syndrome	Poland's syndactyly;	n_a
Pontiac fever		A legionellosis that involves a milder respiratory..[+] A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. [-]
Potocki-Luspski syndrome	17p11.2 microduplication syndrome; chromosome 17p1.. [+] 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome; trisomy 17p11.2; [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. [-]
Potter's syndrome	Potter sequence; Potter syndrome;	A renal agenesis characterized by the typical phys..[+] A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. [-]
Powassan encephalitis		A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. [-]
Prader-Willi syndrome	Prader Willi syndrome;	n_a
Prieto syndrome	Prieto-Badia-Mulas syndrome; X-linked intellectual.. [+] Prieto-Badia-Mulas syndrome; X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21. [-]
Prinzmetal angina	angina inversa; Prinzmetal's angina; Prinzmetal's .. [+] angina inversa; Prinzmetal's angina; Prinzmetal's variant angina; variant angina; variant angina pectoris; [-]	A coronary artery vasospasm characterized by spasm..[+] A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. [-]
Proteus syndrome	Wiedemann's syndrome;	n_a
Pthirus pubis infestation	crabs; Infestation by Phthirus pubis (disorder); P.. [+] crabs; Infestation by Phthirus pubis (disorder); Pediculosis Pubis; Pediculus pubis; Phthiriasis pubis; Phthirus pubis; Phthirus pubis [pubic louse]; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); [-]	A lice infestation that involves parasitic infesta..[+] A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. [-]
Q fever	Infection due to Coxiella burnetii (disorder);	A primary bacterial infectious disease that is a z..[+] A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. [-]
Qazi Markouizos syndrome	Dysharmonic skeletal maturation - muscular fibre d.. [+] Dysharmonic skeletal maturation - muscular fibre disproportion; Qazi-Markouizos syndrome; [-]	A syndrome that is characterized by hypotonia, con..[+] A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [-]
Quebec platelet disorder	BDPLT5; factor V Quebec; platelet-type bleeding di.. [+] BDPLT5; factor V Quebec; platelet-type bleeding disorder 5; [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
Queensland tick typhus	Australian tick typhus ; North Queensland tick typ.. [+] Australian tick typhus ; North Queensland tick typhus; Queensland tick typhus (disorder); Rickettsia australis spotted fever; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. [-]
REM sleep behavior disorder	Rapid eye movement sleep behavior disorder ;	A sleep disorder that involves abnormal behavior i..[+] A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. [-]
RIDDLE syndrome	Radiosensitivity-immunodeficiency-dysmorphic featu.. [+] Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency; [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has_material_basis_in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. [-]
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/pal.. [+] anhidrotic ectodermal dysplasia with cleft lip/palate; [-]	An autosomal dominant disease characterized by abn..[+] An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
Raynaud disease	Raynaud's disease; Raynaud's disease (disorder); R.. [+] Raynaud's disease; Raynaud's disease (disorder); Raynaud's syndrome; Raynaud's syndrome (disorder); Raynaud's syndrome (disorder) [Ambiguous]; Raynaud's syndrome NOS (disorder); [-]	n_a
Refsum disease	Heredopathia atactica polyneuritiformis; HMSN type.. [+] Heredopathia atactica polyneuritiformis; HMSN type IV; HSMN IV; Refsum's disease; [-]	n_a
Reis-Bucklers corneal dystrophy	anterior limiting membrane dystrophy type I; corne.. [+] anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy; granular corneal dystrophy type III; RBCD; [-]	n_a
Renpenning syndrome	Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked.. [+] Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; syndromic X-linked mental retardation 8; X-linked intellectual disability due to PQBP1 mutations; X-linked intellectual disability, Renpenning type; X-linked mental retardation Renpenning type; X-linked mental retardation with spastic diplegia; [-]	An intellectual disability that is characterized b..[+] An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [-]
Rett syndrome	cerebroatrophic hyperammonemia; Rett's disorder;	A pervasive developmental disease that is characte..[+] A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. [-]
Revesz syndrome	DKCA5; Dyskeratosis Congenita, Autosomal Dominant .. [+] DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5; exudative retinopathy with bone marrow failure; [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
Reye syndrome	Reye's syndrome;	A syndrome characterized by acute brain damage and..[+] A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. [-]
Rh deficiency syndrome		n_a
Rh isoimmunization	Rh incompatibility affecting management of mother;.. [+] 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..[+] A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. [-]
Riedel's fibrosing thyroiditis	Riedel fibrosing thyroiditis;	n_a
Rift Valley fever		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. [-]
Riley-Day syndrome	familial autonomic nervous dysfunction; familial d.. [+] familial autonomic nervous dysfunction; familial dysautonomia; HSAN III; [-]	n_a
Ritscher-Schinzel syndrome	3C syndrome; CCC dysplasia; craniocerebellocardiac.. [+] 3C syndrome; CCC dysplasia; craniocerebellocardiac dysplasia; [-]	A syndrome by craniofacial (prominent occiput and ..[+] A syndrome by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [-]
Ritscher-Schinzel syndrome 1		A Ritscher-Schinzel syndrome that has_material_bas..[+] A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. [-]
Ritscher-Schinzel syndrome 2		A Ritscher-Schinzel syndrome that has_material_bas..[+] A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. [-]
Ritter's disease	Dermatitis exfoliativa neonatorum; Pemphigus neona.. [+] Dermatitis exfoliativa neonatorum; Pemphigus neonatorum; Ritter disease; Scalded skin syndrome; Staphylococcal scalded skin syndrome (disorder); Toxic epidermal necrolysis, subcorneal type (disorder); [-]	A commensal bacterial infectious disease that is c..[+] A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. [-]
Roberts syndrome	LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-P.. [+] LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE; [-]	n_a
Robinow syndrome	acral dysostosis with facial and genital abnormali.. [+] acral dysostosis with facial and genital abnormalities; fetal face syndrome; Robinow dwarfism; [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]
Rocky Mountain spotted fever	So Paulo fever; Brazillian spotted; Choix; Exanthe.. [+] So Paulo fever; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; Tick typhus ; Tobia fever; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
Ross River fever	Ross River virus disease;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. [-]
Rothmund-Thomson syndrome	Congenital poikiloderma; Rothmund-Thomson syndrome.. [+] Congenital poikiloderma; Rothmund-Thomson syndrome (disorder); RTS; [-]	n_a
Rubinstein-Taybi syndrome	Broad Thumb-Hallux syndrome; proximal chromosome 1.. [+] Broad Thumb-Hallux syndrome; proximal chromosome 16p13.3 deletion syndrome; Rubinstein syndrome; [-]	An autosomal dominant disease characterized by sho..[+] An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. [-]
SADDAN	SADDAN dysplasia; severe achondroplasia with devel.. [+] SADDAN dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans; [-]	An autosomal dominant disease characterized by sev..[+] An autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. [-]

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