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Disease	Synonyms	Description
muscular dystrophy-dystroglycanopathy type B5	congenital muscular dystrophy 1C; FKRP-related con.. [+] congenital muscular dystrophy 1C; FKRP-related congenital muscular dystrophy; MDC1C; MDDGB5; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. [-]
muscular dystrophy-dystroglycanopathy type B6	congenital muscular dystrophy type 1D; congenital .. [+] congenital muscular dystrophy type 1D; congenital muscular dystrophy LARGE-related; MDC1D; MDDGB6; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. [-]
Oguchi disease-1	CSNBO1; congenital stationary night blindness Oguc.. [+] CSNBO1; congenital stationary night blindness Oguchi type 1 [-]	A hereditary night blindness characterized by cong..[+] A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. [-]
Oguchi disease-2	CSNBO2; congenital stationary night blindness Oguc.. [+] CSNBO2; congenital stationary night blindness Oguchi type 2 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. [-]
neuronal ceroid lipofuscinosis 4	CLN4B disease; autosomal dominant neuronal ceroid .. [+] CLN4B disease; autosomal dominant neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. [-]
neuronal ceroid lipofuscinosis 1	CLN1; neuronal ceroid lipofuscinosis 1 variable ag.. [+] CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. [-]
neuronal ceroid lipofuscinosis 7	CLN7	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. [-]
neuronal ceroid lipofuscinosis 8	CLN8	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. [-]
neuronal ceroid lipofuscinosis 10	Cathepsin D deficiency; CLN10; neuronal ceroid lip.. [+] CLN10; Cathepsin D deficiency; neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency [-]	A neuronal ceroid lipofuscinosis that has_material..[+] A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. [-]
neuronal ceroid lipofuscinosis 2	CLN2; neuronal ceroid lipofuscinosis 2 variable ag.. [+] CLN2; neuronal ceroid lipofuscinosis 2 variable age at onset [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. [-]
neuronal ceroid lipofuscinosis 13	CLN13; neuronal ceroid lipofuscinosis 13 Kufs type.. [+] CLN13; neuronal ceroid lipofuscinosis 13 Kufs type [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. [-]
neuronal ceroid lipofuscinosis 5	CLN5; neuronal ceroid lipofuscinosis 5 variable ag.. [+] CLN5; neuronal ceroid lipofuscinosis 5 variable age of onset [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. [-]
neuronal ceroid lipofuscinosis 6	CLN6; neuronal ceroid lipofuscinosis 6 variable ag.. [+] CLN6; neuronal ceroid lipofuscinosis 6 variable age of onset [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. [-]
neuronal ceroid lipofuscinosis 4A	CLN4A; autosomal recessive neuronal ceroid lipofus.. [+] CLN4A; autosomal recessive neuronal ceroid lipofuscinosis 4A [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. [-]
neuronal ceroid lipofuscinosis 3	CLN3; Batten disease; juvenile neuronal ceroid lip.. [+] CLN3; Batten disease; juvenile neuronal ceroid lipofuscinosis [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [-]
neuronal ceroid lipofuscinosis 11	CLN11	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. [-]
neuronal ceroid lipofuscinosis 9	CLN9	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures. [-]
neurodegeneration with brain iron accumulation 6	CoPAN; NBIA6; Neurodegeneration with brain iron ac.. [+] CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. [-]
hereditary spastic paraplegia 47	CPSQ5; autosomal recessive spastic paraplegia 47; .. [+] CPSQ5; autosomal recessive spastic paraplegia 47; spastic quadriplegic cerebral palsy 5; SPG47 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. [-]
hereditary spastic paraplegia 50	CPSQ3; autosomal recessive spastic paraplegia 50; .. [+] CPSQ3; autosomal recessive spastic paraplegia 50; spastic quadriplegic cerebral palsy 3; SPG50 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. [-]
hereditary spastic paraplegia 51	CPSQ4; autosomal dominant spastic paraplegia 51; s.. [+] CPSQ4; autosomal dominant spastic paraplegia 51; spastic quadriplegic cerebral palsy 4; SPG51 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 52	CPSQ6; autosomal recessive spastic paraplegia 52; .. [+] CPSQ6; autosomal recessive spastic paraplegia 52; spastic quadriplegic cerebral palsy 6; SPG52 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. [-]
hereditary spastic paraplegia 9A	cataracts with motor neuronopathy, short stature a.. [+] cataracts with motor neuronopathy, short stature and skeletal abnormalities; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; autosomal dominant spastic paraplegia 9A; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; SPG9A [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. [-]
rhizomelic chondrodysplasia punctata type 2	Chondrodysplasia Punctata, Rhizomelic, Due To Dihy.. [+] Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Rcdp2 [-]	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. [-]
posterior polymorphous corneal dystrophy 1	Corneal Endothelial Dystrophy 1, Autosomal Dominan.. [+] Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ched1; Maumenee Corneal Dystrophy; Ppcd1 [-]	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [-]
nemaline myopathy 3	congenital myopathy 2A; NEM3; nemaline myopathy 3,.. [+] congenital myopathy 2A; NEM3; nemaline myopathy 3, autosomal dominant or recessive [-]	A nemaline myopathy that has_material_basis_in hom..[+] A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. [-]
nemaline myopathy 4	CAP myopathy 2; NEM4; nemaline myopathy 4, autosom.. [+] CAP myopathy 2; NEM4; nemaline myopathy 4, autosomal dominant [-]	A nemaline myopathy that has_material_basis_in het..[+] A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. [-]
autosomal recessive osteopetrosis 3	carbonic anhydrase II deficiency; autosomal recess.. [+] carbonic anhydrase II deficiency; autosomal recessive osteopetrosis 3 with renal tubular acidosis; Guibaud-Vainsel syndrome; marble brain disease; OPTB3; osteopetrosis with renal tubular acidosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
brachydactyly-preaxial hallux varus syndrome	Christian brachydactyly; preaxial brachydactyly wi.. [+] Christian brachydactyly; preaxial brachydactyly with hallux varus and thumb abduction [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
Joubert syndrome 1	cerebelloparenchymal disorder IV; CORS1; CPD4; cer.. [+] CPD4; CORS1; cerebelloparenchymal disorder IV; cerebellooculorenal syndrome 1; JBTS1 [-]	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. [-]
Joubert syndrome 2	CORS2; cerebellooculorenal syndrome 2; JBTS2	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. [-]
X-linked cone-rod dystrophy 2	CORDX2; COD2; X-linked cone dystrophy 2	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. [-]
X-linked cone-rod dystrophy 3	CORDX3	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. [-]
X-linked cone-rod dystrophy 1	CORDX1; COD1; X-linked cone dystrophy 1	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. [-]
platelet-type bleeding disorder 9	collagen platelet receptor deficiency; BDPLT9; gly.. [+] collagen platelet receptor deficiency; BDPLT9; glycoprotein Ia deficiency; GP Ia deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. [-]
platelet-type bleeding disorder 10	CD36 deficiency; BDPLT10; platelet glycoprotein IV.. [+] CD36 deficiency; BDPLT10; platelet glycoprotein IV deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. [-]
familial hypobetalipoproteinemia 2	combined familial hypolipidemia; FHBL2	A hypobetalipoproteinemia that has material_basis_..[+] A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. [-]
hyperphosphatemic familial tumoral calcinosis	cortical hyperostosis with hyperphosphatemia; fami.. [+] cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
maturity-onset diabetes of the young type 5	congenital anomalies of the kidney and urinary tra.. [+] congenital anomalies of the kidney and urinary tract with diabetes; CAKUT with diabetes; atypical familial juvenile hyperuricemic nephropathy; atypical FJHN; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; MODY5; RCAD; renal cysts and diabetes syndrome [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]
IGSF1 deficiency syndrome	CHTE; central hypothyroidism and testicular enlarg.. [+] CHTE; central hypothyroidism and testicular enlargement; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement [-]	An X-linked disease characterized by hypothyroidis..[+] An X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. [-]
partial trisomy distal 4q	Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q3.. [+] Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Distal 4q Trisomy; Dup(4q) Syndrome, Partial; Duplication 4q Syndrome, Partial; Partial Trisomy 4q Syndrome [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. [-]
molybdenum cofactor deficiency type B	combined deficiency of sulfite oxidase, xanthine d.. [+] combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B; MOCOD type B; MOCODB; molybdenum cofactor deficiency complementation group B [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. [-]
molybdenum cofactor deficiency type A	combined deficiency of sulfite oxidase, xanthine d.. [+] combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A; MOCOD type A; MOCODA; molybdenum cofactor deficiency complementation group A [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. [-]
molybdenum cofactor deficiency	combined deficiency of sulfite oxidase, xanthine d.. [+] combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; MOCOD [-]	A metal metabolism disease characterized by enceph..[+] A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. [-]
molybdenum cofactor deficiency type C	combined deficiency of sulfite oxidase, xanthine d.. [+] combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; MOCOD type C; MOCODC; molybdenum cofactor deficiency complementation group C [-]	A molybdenum cofactor deficiency that has_material..[+] A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. [-]
Jackson-Weiss syndrome	craniosynostosis-midfacial hypoplasia-foot abnorma.. [+] craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; JWS [-]	A syndrome characterized by craniosynostosis, midf..[+] A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. [-]
large congenital melanocytic nevus	Congenital pigmented nevus; Giant congenital melan.. [+] Congenital pigmented nevus; Giant congenital melanocytic nevus; Giant pigmented hairy nevus; GMN; LCMN [-]	A skin disease characterized by the presence at bi..[+] A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. [-]
isolated hyperchlorhidrosis	carbonic anhydrase XII deficiency; HYCHL	A skin disease characterized by excessive loss of ..[+] A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. [-]
familial lipase maturation factor 1 deficiency	combined lipase deficiency; familial LMF1 deficien.. [+] combined lipase deficiency; familial LMF1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
retinal vasculopathy with cerebral leukodystrophy	CRV; hereditary cerebroretinal vasculopathy; retin.. [+] CRV; hereditary cerebroretinal vasculopathy; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; RVCL-S [-]	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. [-]

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