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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
Sakati-Nyhan syndrome	ACPS with leg hypoplasia; acrocephalopolysyndactyl.. [+] ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; Sakati-Nyhan-Tisdale syndrome; acrocephalopolysyndactyly Type III; [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
Saldino-Noonan syndrome	type I short rib polydactyly syndrome;	n_a
Sandestig-Stefanova syndrome		A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. [-]
Sandhoff disease	Sandhoff Jatzkewitz disease;	A GM2 gangliosidosis that is characterized by an a..[+] A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. [-]
Saul-Wilson syndrome	microcephalic osteodysplastic dysplasia, Saul-Wils.. [+] microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS; [-]	A bone development disease characterized by early ..[+] A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. [-]
Schaaf-Yang syndrome	MAGEL2-related Prader-Willi-like syndrome; MAGEL2-.. [+] MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; PWLS; SHFYNG; [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. [-]
Scheie syndrome	mucopolysaccharidosis type 1S; mucopolysaccharidos.. [+] mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V; [-]	A mucopolysaccharidosis characterized by corneal c..[+] A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. [-]
Scheuermann's disease	Juvenile osteochondritis of the spine; Juvenile os.. [+] Juvenile osteochondritis of the spine; Juvenile osteochondrosis of Scheurermann; Scheuermann disease; Scheuermann's kyphosis; Juvenile osteochondrosis of spine; Sherman's Disease; [-]	An osteochondrosis that results_in abnormal bone g..[+] An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. [-]
Schimke immuno-osseous dysplasia	immunoosseous dysplasia Schimke type; Schimke synd.. [+] immunoosseous dysplasia Schimke type; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immunoosseous dysplasia; [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
Schindler disease	alpha-N-acetylgalactosaminidase deficiency; NAGA d.. [+] alpha-N-acetylgalactosaminidase deficiency; NAGA deficiency; [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schindler disease type 1	alpha-N-acetylgalactosaminidase deficiency type 1;.. [+] alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; [-]	A Schindler disease characterized by infantile ons..[+] A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schindler disease type 3	alpha-N-acetylgalactosaminidase deficiency type 3;.. [+] alpha-N-acetylgalactosaminidase deficiency type 3; NAGA deficiency type 3; [-]	A Schindler disease characterized by mild to moder..[+] A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schinzel Giedion syndrome	Schinzel-Giedion midface retraction syndrome; SGS;.. [+] Schinzel-Giedion midface retraction syndrome; SGS; [-]	An ectodermal dysplasia characterized by distincti..[+] An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. [-]
Schinzel type phocomelia	AARRS; absence of ulna and fibula with severe limb.. [+] AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; Schinzel phocomelia syndrome; severe limb deficit; [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]

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