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Disease	Synonyms	Description	Articles	Phenotypes
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 degredation 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		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 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; [-]	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. [-]
SATB2-associated syndrome	2q32-q33 microdeletion syndrome; 2q32q33 microdele.. [+] 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; monosomy 2q32q33; chromosome 2q32-q33 deletion syndrome; monosomy 2q32; monosomy 2q32-q33; [-]	A syndrome that has_material_basis_in genetic chan..[+] A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. [-]
SHORT syndrome	Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger a.. [+] Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; Rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay; [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
SHOX-related short stature	idiopathic familial short stature;	A bone development disease characterized by height..[+] A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. [-]
SM-AHNMD	systemic mastocytosis with associated clonal haema.. [+] systemic mastocytosis with associated clonal haematological non-mast cell lineage disease; systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality); systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease; [-]	n_a
SMARCB1-deficient renal medullary carcinoma	kidney medullary carcinoma; medullary carcinoma of.. [+] kidney medullary carcinoma; medullary carcinoma of the kidney; medullary renal cell carcinoma; RMC; renal medullary carcinoma; [-]	A renal cell carcinoma that develops in the renal ..[+] A renal cell carcinoma that develops in the renal medulla. [-]
SOST-related sclerosing bone dysplasia	van Buchem disease;	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. [-]
SPOAN syndrome	spastic paraplegia, optic atropy, and neuropathy; .. [+] spastic paraplegia, optic atropy, and neuropathy; spastic paraplegia, optic atropy, and neuropathy syndrome; [-]	A neurodegenerative disease characterized by spast..[+] A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. [-]
ST2 diffuse large B-cell lymphoma	ST2 DLBCL;	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. [-]
STING-associated vasculopathy with onset in infancy	SAVI;	An autoimmune disease of the cardiovascular system..[+] An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. [-]
Sabinas brittle hair syndrome	brittle hair-mental deficiency syndrome; trichothi.. [+] brittle hair-mental deficiency syndrome; trichothiodystrophy type B; [-]	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. [-]
Saethre-Chotzen syndrome	acrocephalosyndactyly type III;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. [-]

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