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Disease	Synonyms	Description
retinitis pigmentosa 9	RP9	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. [-]
retinitis pigmentosa 10	RP10	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. [-]
retinitis pigmentosa 73	RP73	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. [-]
retinitis pigmentosa 1	RP1	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. [-]
retinitis pigmentosa 31	RP31	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. [-]
retinitis pigmentosa 70	RP70	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. [-]
retinitis pigmentosa 66	RP66	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. [-]
retinitis pigmentosa 44	RP44	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. [-]
retinitis pigmentosa 72	RP72	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. [-]
retinitis pigmentosa 50	RP50	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. [-]
retinitis pigmentosa 27	RP27	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. [-]
retinitis pigmentosa 51	RP51	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. [-]
retinitis pigmentosa 37	RP37	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. [-]
retinitis pigmentosa 22	RP22	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. [-]
retinitis pigmentosa 74	RP74	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. [-]
retinitis pigmentosa 45	RP45	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. [-]
retinitis pigmentosa 13	RP13	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. [-]
retinitis pigmentosa 17	RP17	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. [-]
retinitis pigmentosa 36	RP36	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. [-]
retinitis pigmentosa 30	RP30	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. [-]
retinitis pigmentosa 57	RP57	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. [-]
retinitis pigmentosa 11	RP11	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. [-]
retinitis pigmentosa 46	RP46	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B 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	rigid spine syndrome; RSMD1; RSS; classic MmD; cla.. [+] RSS; RSMD1; rigid spine syndrome; classic MmD; classic multiminicore disease; classic multiminicore myopathy; congenital merosin-positive muscular dystrophy with early spine rigidity; desmin-related myopathy with Mallory bodies; desmin-related myopathy with Mallory body-like inclusions; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; SEPN1-related myopathy; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease [-]	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; Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Peroxisomal 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. [-]
restrictive cardiomyopathy 2	RCM2; familial restrictive cardiomyopathy 2	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. [-]
retinal vasculopathy with cerebral leukodystrophy	RVCL; RVCL-S; retinopathy, vascular, with cerebral.. [+] RVCL-S; RVCL; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; 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. [-]
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 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. [-]
aortic valve insufficiency	Rheumatic aortic valve regurgitation; rheumatic ao.. [+] Rheumatic aortic valve regurgitation; rheumatic aortic valve insufficiency; Rheumatic aortic regurgitation; Rheumatic aortic insufficiency; aortic incompetence; aortic insufficiency; aortic regurgitation; Corrigan's disease [-]	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 mitral valve regurgitation; rheumatic mi.. [+] Rheumatic mitral valve regurgitation; rheumatic mitral valve incompetence; Rheumatic mitral valve changes; Rheumatic mitral insufficiency; Rheumatic disease of mitral valve (disorder); rheumatic disease of mitral valve; chronic rheumatic mitral valve (disorder); disease of mitral valve; Mitral RH valve dis. [-]	n_a
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 tumors (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; leiomyosarcoma of the renal Vein; malignant great vessel tumor; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; neoplasm of great vessel; pulmonary artery malignant neoplasm; pulmonary vein malignant neoplasm; vascular tissue neoplasm; vascular tumors [-]	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) [-]	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. [-]
chronic kidney disease	renal failure - chronic; chronic kidney failure; c.. [+] renal failure - chronic; chronic kidney failure; chronic renal disease; chronic renal failure syndrome; CKD; CRF [-]	n_a

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