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Disease	Synonyms	Description	Articles
retinitis pigmentosa 46	RP46	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. [-]
retinitis pigmentosa 69	RP69	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. [-]
retinitis pigmentosa 60	RP60	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. [-]
retinitis pigmentosa 23	RP23	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. [-]
retinitis pigmentosa 6	RP6	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. [-]
retinitis pigmentosa 3	RP3	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. [-]
retinitis pigmentosa 2	RP2	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. [-]
retinitis pigmentosa 24	RP24	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. [-]
retinitis pigmentosa 34	RP34	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. [-]
retinitis pigmentosa Y-linked	RPY	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. [-]
retinitis pigmentosa with or without situs inversus		A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. [-]
rigid spine muscular dystrophy 1	RSS; RSMD1; rigid spine syndrome; classic MmD; con.. [+] rigid spine syndrome; RSMD1; RSS; classic MmD; congenital merosin-positive muscular dystrophy with early spine rigidity; desmin-related myopathy with Mallory bodies; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease; classic multiminicore myopathy; desmin-related myopathy with Mallory body-like inclusions; classic multiminicore disease; SEPN1-related myopathy [-]	A congenital muscular dystrophy characterized by i..[+] A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. [-]
retinitis pigmentosa-deafness syndrome		An Usher syndrome characterized by retinitis pigme..[+] An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. [-]
rhizomelic chondrodysplasia punctata type 1	Rcdp1; Pbd9; Peroxisome Biogenesis Disorder 9	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. [-]
rhizomelic chondrodysplasia punctata type 2	Rcdp2; Chondrodysplasia Punctata, Rhizomelic, Due .. [+] Rcdp2; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency [-]	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. [-]
rhizomelic chondrodysplasia punctata type 3	Rcdp3; Agps Deficiency; Alkyldihydroxyacetonephosp.. [+] Rcdp3; Agps Deficiency; Alkyldihydroxyacetonephosphate Synthase Deficiency; Alkylglycerone-Phosphate Synthase Deficiency [-]	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. [-]
rhizomelic chondrodysplasia punctata type 5	Rcdp5	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. [-]
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. [-]
restrictive cardiomyopathy 1	RCM1; familial restrictive cardiomyopathy 1	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. [-]
restrictive cardiomyopathy 3	RCM3; familial restrictive cardiomyopathy 3	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. [-]
retinal arterial tortuosity	retinal hemorrhage with vascular tortuosity; retin.. [+] retinal hemorrhage with vascular tortuosity; retinal arteriolar tortuosity; RATOR; tortuosity of retinal arteries [-]	An artery disease characterized by pronounced tort..[+] An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. [-]
ring dermoid of cornea	ring dermoid syndrome; RDC	A corneal disease characterized by annular limbal ..[+] A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. [-]
retinal vasculopathy with cerebral leukodystrophy	retinopathy, vascular, with cerebral and renal inv.. [+] retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; RVCL-S; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; retinal vasculopathy and cerebral leukoencephalopathy; CRV; hereditary cerebroretinal vasculopathy [-]	A vascular disease characterized by adult onset of..[+] A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. [-]
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	Rolandic epilepsy with paroxysmal exercise-induced.. [+] Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp; Rolandic-type focal motor epilepsy and exercise-induced dystonia; RE-PED-WC; EPRPDC [-]	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. [-]
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. [-]
retinitis pigmentosa 83	RP83	A retinitis pigmentosa characterized by onset of n..[+] A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. [-]
retinitis pigmentosa 84	RP84	A retinitis pigmentosa characterized by onset of n..[+] A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. [-]
retinitis pigmentosa 85	RP85	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. [-]
retinitis pigmentosa 86	RP86	A retinitis pigmentosa characterized by night blin..[+] A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. [-]
retinitis pigmentosa 87	RP87; retinitis pigmentosa 87 with choroidal invol.. [+] RP87; retinitis pigmentosa 87 with choroidal involvement [-]	A retinitis pigmentosa characterized by slowly pro..[+] A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. [-]
retinitis pigmentosa 88	RP88	A retinitis pigmentosa characterized by night blin..[+] A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. [-]
retinitis pigmentosa 89	RP89	A retinitis pigmentosa characterized by onset of r..[+] A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. [-]
retinitis pigmentosa 90	RP90	A retinitis pigmentosa characterized by onset in t..[+] A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. [-]
aortic valve insufficiency	rheumatic aortic valve insufficiency; Rheumatic ao.. [+] rheumatic aortic valve insufficiency; Rheumatic aortic insufficiency; Rheumatic aortic valve regurgitation; Rheumatic aortic regurgitation; aortic incompetence; Corrigan's disease; aortic insufficiency; aortic regurgitation [-]	An aortic valve disease that is characterized by l..[+] An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. [-]
mitral valve disease	Rheumatic disease of mitral valve; Rheumatic mitra.. [+] Rheumatic disease of mitral valve; Rheumatic mitral valve changes; rheumatic disease of mitral valve; Rheumatic mitral valve regurgitation; rheumatic mitral valve incompetence; Rheumatic mitral insufficiency; Rheumatic disease of mitral valve (disorder); disease of mitral valve; chronic rheumatic mitral valve (disorder); chronic rheumatic mitral valve; Mitral RH valve dis. [-]	n_a	1 articles
cardiac tamponade	Rose's tamponade; pericardial tamponade	A pericardial effusion in which fluid accumulates ..[+] A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. [-]
vascular cancer	renal vein leiomyosarcoma; Blood Vessel neoplasm; .. [+] renal vein leiomyosarcoma; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
kidney hemangiopericytoma	renal hemangiopericytoma; hemangiopericytoma of ki.. [+] renal hemangiopericytoma; hemangiopericytoma of kidney (disorder); hemangiopericytoma of kidney [-]	A kidney cancer which is manifested in the kidney.
kidney cancer	renal cancer; malignant neoplasm of kidney except .. [+] renal cancer; malignant neoplasm of kidney except pelvis; malignant tumour of kidney [-]	A urinary system cancer that is located_in the kid..[+] A urinary system cancer that is located_in the kidney. [-]	1 articles
chronic kidney disease	renal failure - chronic; CRF; chronic kidney failu.. [+] renal failure - chronic; CRF; chronic kidney failure; chronic renal failure syndrome; CKD; chronic renal disease [-]	A kidney failure that is characterized by the grad..[+] A kidney failure that is characterized by the gradual loss of kidney function. [-]
interstitial nephritis	renal tubulo-interstitial disease	n_a
kidney failure	renal failure	A kidney disease characterized by the failure of t..[+] A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. [-]	2 articles
fetal erythroblastosis	rhesus isoimmunisation of the newborn; (Haemolytic.. [+] rhesus isoimmunisation of the newborn; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); erythroblastosis fetalis; EF - Erythroblastosis foetalis; Haemolytic disease due to rhesus isoimmunisation [-]	n_a
hereditary hemorrhagic telangiectasia	Rendu-Osler-Weber disease; Osler hemorrhagic telan.. [+] Rendu-Osler-Weber disease; Osler hemorrhagic telangiectasia syndrome; Osler-Weber-Rendu disease [-]	A vascular disease characterized by the presence o..[+] A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. [-]
pure red-cell aplasia	Red cell hypoplasia; primary red cell aplasia; Pur.. [+] Red cell hypoplasia; primary red cell aplasia; Pure Red cell Aplasia; Pure red cell aplasia (disorder); Pure red cell aplasia; pure red cell aplasia [-]	n_a
major depressive disorder	recurrent major depression; single major depressiv.. [+] recurrent major depression; single major depressive episode; clinical depression; major depression; unipolar depression [-]	A depressive disorder that is characterized by at ..[+] A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. [-]	1 articles
nodular nonsuppurative panniculitis	Relapsing febrile nodular nonsuppurative panniculi.. [+] Relapsing febrile nodular nonsuppurative panniculitis; Relapsing febrile nodular nonsuppurative panniculitis (disorder); Weber - Christian disease; nodular non-suppurative febrile panniculitis; Weber-Christian disease [-]	n_a
aortic valve stenosis	Rheumatic aortic stenosis; rheumatic aortic valve .. [+] Rheumatic aortic stenosis; rheumatic aortic valve stenosis; AS; Congenital aortic valve stenosis; Aortic stenosis [-]	An aortic valve disease that is characterized by n..[+] An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. [-]	2 articles
atypical teratoid rhabdoid tumor	Rhabdoid tumour of the CNS; rhabdoid tumor predisp.. [+] Rhabdoid tumour of the CNS; rhabdoid tumor predisposition syndrome; Rhabdoid tumor of the CNS; AT/RT; Atypical teratoid/rhabdoid tumor (morphologic abnormality); atypical teratoid rhabdoid tumour; Atypical teratoid/rhabdoid tumor; Atypical teratoid/rhabdoid tumour [-]	A brain cancer that is usually located in the brai..[+] A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. [-]
nephroblastoma	renal Wilms tumor; adult renal Wilms' tumor; child.. [+] renal Wilms tumor; adult renal Wilms' tumor; childhood renal Wilms tumor; childhood renal Wilms' cancer; Wilms' tumor; adult nephroblastoma [-]	A kidney cancer that affects the kidneys and typic..[+] A kidney cancer that affects the kidneys and typically located_in children. [-]

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