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Disease	Synonyms	Description	Articles	Phenotypes
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-Lupski 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 contiguous gene syndrome caused by duplication of chromosome 17p11.2. [-]
Potocki-Shaffer syndrome	11p11.2 deletion; PSS; proximal 11p deletion syndr.. [+] 11p11.2 deletion; PSS; proximal 11p deletion syndrome; [-]	A syndrome characterized by craniofacial abnormali..[+] A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. [-]
Potter's syndrome	Potter syndrome; Potter sequence;	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;	A chromosomal disease that is characterized by wea..[+] A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. [-]
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 hemizygous mutation in the WNK3 gene on chromosome Xp11. [-]
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;	A PTEN hamartoma tumor syndrome that is characteri..[+] A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. [-]
Pthirus pubis infestation	crabs; Infestation by Phthirus pubis (disorder); P.. [+] crabs; Infestation by Phthirus pubis (disorder); Pediculosis Pubis; Phthiriasis pubis; Phthirus pubis; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Phthirus pubis [pubic louse]; Infestation by Phthirus pubis; Pediculus pubis; Phthirus/pediculus pubis - pubic lice - crabs; [-]	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); Inf.. [+] Infection due to Coxiella burnetii (disorder); Infection due to Coxiella burnetii; [-]	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; platelet-type bleeding disorder 5; factor .. [+] BDPLT5; platelet-type bleeding disorder 5; factor V Quebec; [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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 degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
Queensland tick typhus	Australian tick typhus ; Queensland tick typhus (d.. [+] Australian tick typhus ; Queensland tick typhus (disorder); Rickettsia australis spotted fever; North Queensland tick typhus; [-]	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. [-]
RASopathy	RAS/mitogen-activated protein kinase syndrome;	A syndrome that has_material_basis_in mutations in..[+] A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. [-]	6 articles	24 matches
RELA fusion-positive ependymoma	C11orf95 fusion-positive supratentorial ependymoma.. [+] C11orf95 fusion-positive supratentorial ependymoma; Supratentorial C11ORF95-RELA fused ependymoma; [-]	A supratentorial ependymoma that has_material_basi..[+] A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. [-]
REM sleep behavior disorder	Rapid eye movement sleep behavior disorder ; Rapid.. [+] Rapid eye movement sleep behavior disorder ; Rapid eye movement sleep behaviour disorder; REM sleep behaviour 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; [-]	A syndrome that is characterized by increased radi..[+] A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. [-]
RNASET2-deficient cystic leukoencephalopathy	cystic leukoencephalopathy without megalencephaly;.. [+] cystic leukoencephalopathy without megalencephaly; infantile-onset RNASET2 deficient cystic leukoencephalopathy; [-]	A leukodystrophy that is characterized by non-prog..[+] A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. [-]
Rafiq syndrome	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15;	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. [-]
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/pal.. [+] anhidrotic ectodermal dysplasia with cleft lip/palate; ectodermal dysplasia syndrome, Rapp-Hodgkin type; RHS; ectodermal dysplasia, Rapp-Hodgkin type; [-]	An ectodermal dysplasia characterized by abnormal ..[+] An ectodermal dysplasia 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 (disorder); Raynaud's syndrome (.. [+] Raynaud's disease (disorder); Raynaud's syndrome (disorder); Raynaud's syndrome (disorder) [Ambiguous]; Raynaud's syndrome NOS (disorder); Raynaud's syndrome; Raynaud's disease; [-]	A peripheral vascular disease that is characterize..[+] A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. [-]
Raynaud-Claes syndrome	MRX15; MRX49; MRXSRC; X-linked mental retardation .. [+] MRX15; MRX49; MRXSRC; X-linked mental retardation 15; X-linked mental retardation 49; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. [-]
Refsum disease	HMSN type IV; Refsum's disease; Heredopathia atact.. [+] HMSN type IV; Refsum's disease; Heredopathia atactica polyneuritiformis; HSMN IV; adult Refsum disease; classic Refsum disease; phytanic acid oxidase deficiency; [-]	A lipid metabolic disorder that is characterized b..[+] A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. [-]
Reis-Bucklers corneal dystrophy	anterior limiting membrane dystrophy type I; granu.. [+] anterior limiting membrane dystrophy type I; granular corneal dystrophy type III; RBCD; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy; [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Renpenning syndrome	Sutherland-Haan X-linked mental retardation syndro.. [+] 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; Golabi-Ito-Hall syndrome; [-]	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. [-]	1 articles	18 matches
Rett syndrome	Rett's disorder; cerebroatrophic hyperammonemia;	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. [-]	4 articles
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		A hemolytic anemia that is characterized by defici..[+] A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. [-]
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 dysautonomia; HSAN III; familial autonomi.. [+] familial dysautonomia; HSAN III; familial autonomic nervous dysfunction; [-]	A hereditary sensory neuropathy that is characteri..[+] A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. [-]
Ritscher-Schinzel syndrome	3C syndrome; craniocerebellocardiac dysplasia; CCC.. [+] 3C syndrome; craniocerebellocardiac dysplasia; CCC dysplasia; [-]	A syndrome characterized by craniofacial (prominen..[+] A syndrome characterized by craniofacial (prominent occiputal 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; Ritter disease;.. [+] Dermatitis exfoliativa neonatorum; Ritter disease; Scalded skin syndrome; Staphylococcal scalded skin syndrome (disorder); Toxic epidermal necrolysis, subcorneal type (disorder); Pemphigus neonatorum; Toxic epidermal necrolysis, subcorneal type; Staphylococcal scalded skin syndrome; [-]	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_symptom 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; RBS; SC phocomelia syndrome; Roberts-Sc Phocomelia Syndrome; [-]	A syndrome characterized by tetraphocomelia, crani..[+] A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. [-]
Robinow syndrome	acral dysostosis with facial and genital abnormali.. [+] acral dysostosis with facial and genital abnormalities; Robinow dwarfism; fetal face syndrome; [-]	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. [-]	1 articles
Rocky Mountain spotted fever	Brazillian spotted; Choix; Exanthematic typhus of .. [+] Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; So Paulo fever; Tick typhus ; Tobia fever; Brazilian spotted; [-]	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. [-]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	EPRPDC; RE-PED-WC; Rolandic-type focal motor epile.. [+] EPRPDC; RE-PED-WC; Rolandic-type focal motor epilepsy and exercise-induced dystonia; Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp; [-]	An infancy electroclinical syndrome characterized ..[+] An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. [-]
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; [-]	A skin disease characterized by poikiloderma, cong..[+] A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. [-]	2 articles
Rubinstein-Taybi syndrome	Broad Thumb-Hallux syndrome; Rubinstein syndrome; .. [+] Broad Thumb-Hallux syndrome; Rubinstein syndrome; proximal chromosome 16p13.3 deletion syndrome; [-]	A syndrome characterized by short stature, moderat..[+] A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. [-]
Ruijs-Aalfs syndrome	progeroid features-hepatocellular carcinoma predis.. [+] progeroid features-hepatocellular carcinoma predisposition syndrome; [-]	A syndrome characterized by genomic instability an..[+] A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. [-]
SADDAN	severe achondroplasia with developmental delay and.. [+] severe achondroplasia with developmental delay and acanthosis nigricans; SADDAN dysplasia; [-]	A syndrome characterized by severe achondroplasia,..[+] A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. [-]
SAPHO syndrome	Synovitis, acne, pustulosis palmaris, hyperostosis.. [+] Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome; [-]	A syndrome characterized by synovitis, acne, pustu..[+] A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. [-]

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