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Disease	Synonyms	Description
right atrial isomerism	asplenia with cardiovascular anomalies; Ivemark sy.. [+] asplenia with cardiovascular anomalies; Ivemark syndrome [-]	A visceral heterotaxy characterized by complete at..[+] A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
renal hypomagnesemia 3	renal hypomagnesemia type 3; familial primary hypo.. [+] renal hypomagnesemia type 3; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; HOMG3; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria; fa.. [+] bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
renal hypomagnesemia 4	HOMG4	A hypomagnesemia characterized by isolated hypomag..[+] A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25. [-]
renal hypomagnesemia 6	HOMG6	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. [-]
renal hypomagnesemia 2	autosomal dominant primary hypomagnesemia with hyp.. [+] autosomal dominant primary hypomagnesemia with hypocalciuria; HOMG2 [-]	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. [-]
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. [-]
reducing body myopathy		n_a
relapsed/refractory diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma characterized by l..[+] A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. [-]
renal hypoplasia		A kidney disease that is characterized by abnormal..[+] A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. [-]
retinitis pigmentosa 77		A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. [-]
rapidly involuting congenital hemangioma		A hemangioma that is characterized by complete reg..[+] A hemangioma that is characterized by complete regression. [-]
retinal cone dystrophy 4		A cone dystrophy that has_material_basis_in homozy..[+] A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. [-]
renal coloboma syndrome	renal-coloboma syndrome with macular abnormalities.. [+] renal-coloboma syndrome with macular abnormalities; CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
RIDDLE syndrome	RNF168 deficiency; Radiosensitivity-immunodeficien.. [+] RNF168 deficiency; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has_material_basis_in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. [-]
retinitis pigmentosa 59	RP59	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. [-]
retinitis pigmentosa 20	RP20	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. [-]
retinitis pigmentosa 19	RP19	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. [-]
retinitis pigmentosa 32	RP32	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. [-]
retinitis pigmentosa 18	RP18	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. [-]
retinitis pigmentosa 35	RP35	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. [-]
retinitis pigmentosa 12	RP12	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. [-]
retinitis pigmentosa 67	RP67	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. [-]
retinitis pigmentosa 39	RP39	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. [-]
retinitis pigmentosa 75	RP75	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. [-]
retinitis pigmentosa 58	RP58	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. [-]
retinitis pigmentosa 71	RP71	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. [-]
retinitis pigmentosa 54	RP54	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. [-]
retinitis pigmentosa 28	RP28	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. [-]
retinitis pigmentosa 33	RP33	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. [-]
retinitis pigmentosa 38	RP38	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. [-]
retinitis pigmentosa 26	RP26	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. [-]
retinitis pigmentosa 47	RP47	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. [-]
retinitis pigmentosa 55	RP55	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. [-]
retinitis pigmentosa 56	RP56	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. [-]
retinitis pigmentosa 4	RP4	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. [-]
retinitis pigmentosa 61	RP61	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. [-]
retinitis pigmentosa 68	RP68	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. [-]
retinitis pigmentosa 40	RP40	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. [-]
retinitis pigmentosa 41	RP41	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. [-]
retinitis pigmentosa 49	RP49	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. [-]
retinitis pigmentosa 29	RP29	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. [-]
retinitis pigmentosa 43	RP43	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. [-]
retinitis pigmentosa 62	RP62	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. [-]
retinitis pigmentosa 14	RP14	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. [-]
retinitis pigmentosa 48	RP48	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. [-]
retinitis pigmentosa 7	RP7	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. [-]
retinitis pigmentosa 25	RP25	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. [-]
retinitis pigmentosa 63	RP63	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. [-]
retinitis pigmentosa 42	RP42	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. [-]

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