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Disease	Synonyms	Description
Coffin-Siris syndrome 1	fifth digit syndrome; autosomal dominant mental re.. [+] fifth digit syndrome; autosomal dominant mental retardation 12; CSS1; MRD12 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3. [-]
Loeys-Dietz syndrome 2	familial throacic aortic aneurysm 3; AAT3; LDS2; M.. [+] familial throacic aortic aneurysm 3; AAT3; LDS2; Marfan syndrome type II [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. [-]
myofibrillar myopathy 5	filaminopathy	n_a
mitochondrial DNA depletion syndrome 9	fatal infantile lactic acidosis	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. [-]
autosomal dominant familial periodic fever	familial hibernian fever; TNF receptor 1-associate.. [+] familial hibernian fever; TNF receptor 1-associated periodic syndrome; tumor necrosis factor receptor 1 associated periodic syndrome [-]	A characterized by autosomal dominant inheritance ..[+] A characterized by autosomal dominant inheritance of recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
hypogonadotropic hypogonadism 12 with or without anosmia	familial idiopathic gonadotrpin deficiency; famili.. [+] familial idiopathic gonadotrpin deficiency; familial hypogonadotrophic eunuchoidism [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	fertile eunuch syndrome; 46,XY disorder of sex dev.. [+] fertile eunuch syndrome; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
lethal congenital glycogen storage disease of heart	fatal congenital hypertrophic cardiomyopathy due t.. [+] fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital nonlysosomal cardiac glycogenosis; phosphorylase kinase deficiency of heart [-]	A glycogen storage disease characterized by autoso..[+] A glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material_basis_in heterozygous mutation in the PRKAG2 gene on chromosome 7q36. [-]
autosomal recessive hypercholesterolemia	familial autosomal recessive hypercholesterolemia; .. [+] familial autosomal recessive hypercholesterolemia; FHCB2; FHCB1; familial autosomal recessive hypercholesterolemia; ARH; ARH1; ARH2; autosomal recessive hypercholesterolemia 1; autosomal recessive hypercholesterolemia 2 [-]	A familial hypercholesterolemia that is characteri..[+] A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. [-]
aromatase excess syndrome	familial hyperestrogenism; AEXS; hereditary prepub.. [+] familial hyperestrogenism; AEXS; hereditary prepubertal gynecomastia; increased aromatase activity [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	familial fibrosing serositis; arthropathy-camptoda.. [+] familial fibrosing serositis; arthropathy-camptodactyly syndrome; CACP; CACP syndrome; camptodactyly-arthropathy-pericarditis syndrome; CAP syndrome; congenital familial hypertrophic synovitis; Jacobs syndrome; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
Donnai-Barrow syndrome	faciooculoacousticorenal syndrome; FOAR syndrome; .. [+] FOAR syndrome; faciooculoacousticorenal syndrome; facio-oculo-acoustico-renal syndrome; DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness [-]	An autosomal recessive disease characterized by fa..[+] An autosomal recessive disease characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LRP2 gene on chromosome 2q31. [-]
advanced sleep phase syndrome 1	FASPS1; familial advanced sleep phase syndrome 1	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. [-]
advanced sleep phase syndrome 2	FASPS2; familial advanced sleep phase syndrome 2	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. [-]
advanced sleep phase syndrome 3	FASPS3; familial advanced sleep phase syndrome 3	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. [-]
arrhythmogenic right ventricular dysplasia 1	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 1; arrhythmogenic right ventricular cardiomyopathy 1; ARVC1; ARVD1; Uhl anomaly [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. [-]
arrhythmogenic right ventricular dysplasia 2	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 2; arrhythmogenic right ventricular cardiomyopathy 2; ARVC2; ARVD2 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. [-]
arrhythmogenic right ventricular dysplasia 3	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 3; arrhythmogenic right ventricular cardiomyopathy 3; ARVC3; ARVD3 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. [-]
arrhythmogenic right ventricular dysplasia 4	fanilial arrhythmogenic right ventricular dysplasi.. [+] fanilial arrhythmogenic right ventricular dysplasia 4; arrhythmogenic right ventricular cardiomyopathy 4; ARVC4; ARVD4 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. [-]
arrhythmogenic right ventricular dysplasia 5	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 5; arrhythmogenic right ventricular cardiomyopathy 5; ARVC5; ARVD5 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. [-]
arrhythmogenic right ventricular dysplasia 6	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 6; arrhythmogenic right ventricular cardiomyopathy 6; ARVC6; ARVD6 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. [-]
arrhythmogenic right ventricular dysplasia 8	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 8; arrhythmogenic right ventricular cardiomyopathy 8; ARVC8; ARVD8 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. [-]
arrhythmogenic right ventricular dysplasia 9	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 9; arrhythmogenic right ventricular cardiomyopathy 9; ARVC9; ARVD9 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. [-]
arrhythmogenic right ventricular dysplasia 10	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 10; arrhythmogenic right ventricular cardiomyopathy 10; ARVC10; ARVD10 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. [-]
arrhythmogenic right ventricular dysplasia 11	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 11; arrhythmogenic right ventricular cardiomyopathy 11; ARVC11; ARVD11 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. [-]
arrhythmogenic right ventricular dysplasia 12	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12; ARVD12 [-]	n_a
arrhythmogenic right ventricular dysplasia 13	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 13; arrhythmogenic right ventricular cardiomyopathy 13; ARVC13; ARVD13 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. [-]
dilated cardiomyopathy 1A	familial dilated cardiomyopathy with conduction de.. [+] familial dilated cardiomyopathy with conduction defect due to LMNA mutation; CDCD1; CMD1A; dilated cardiomyopathy with conduction defect 1 [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
muscular dystrophy-dystroglycanopathy type B5	FKRP-related congenital muscular dystrophy; congen.. [+] FKRP-related congenital muscular dystrophy; congenital muscular dystrophy 1C; 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. [-]
congenital myasthenic syndrome 10	familial limb-girdle myasthenia; CMS Ib; CMS10; CM.. [+] familial limb-girdle myasthenia; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; LGM [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. [-]
congenital myasthenic syndrome 6	FIM; FIMG2; familial infantile myasthenia gravis 2.. [+] FIMG2; FIM; familial infantile myasthenia gravis 2; familial infantile myasthenia; CMS Ia2; CMS1A2; CMS6; CMSEA; congenital myasthenic syndrome 6, presynaptic; congenital myasthenic syndrome type Ia2; congenital presynaptic myasthenic syndrome associated with episodic apnea [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. [-]
congenital myasthenic syndrome 4C	familial infantile myasthenia 1; FIM1; CMS Id; CMS.. [+] FIM1; familial infantile myasthenia 1; CMS Id; CMS1D; CMS4C; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type Id [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. [-]
neurodegeneration with brain iron accumulation 3	Ferritin-related neurodegeneration; Adult basal ga.. [+] Ferritin-related neurodegeneration; Adult basal ganglia disease; Hereditary ferritinopathy; NBIA3; Neuroferritinopathy; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
hereditary spastic paraplegia 35	fatty acid hydroxylase-associated neurodegeneratio.. [+] fatty acid hydroxylase-associated neurodegeneration; FAHN; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; SPG35 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. [-]
hereditary spastic paraplegia 3A	FSP1; autosomal dominant familial spastic parapleg.. [+] FSP1; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; SPG3A; strumpell disease [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. [-]
hereditary spastic paraplegia 6	FSP3; autosomal dominant familial spastic parapleg.. [+] FSP3; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; autosomal dominant spastic paraplegia type 6; SPG6 [-]	A hereditary spastic paraplegia that is usually ch..[+] A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2 [-]
Gaucher's disease perinatal lethal	Fetal Gaucher Disease; Gaucher Disease, Collodion .. [+] Fetal Gaucher Disease; Gaucher Disease, Collodion Type [-]	A Gaucher's Disease characterized by perinatal let..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]
brachydactyly type A1	Farabee type brachydactyly; BDA1	A brachydactyly characterized by rudimentary or fu..[+] A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. [-]
hemochromatosis type 4	ferroportin disease; autosomal dominant hereditary.. [+] ferroportin disease; autosomal dominant hereditary hemochromatosis; hemochromatosis due to defect in ferroportin; HFE4 [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. [-]
hemochromatosis type 5	FTH1-related iron overload; FTH1-associated iron o.. [+] FTH1-related iron overload; FTH1-associated iron overload; HFE5 [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. [-]
Quebec platelet disorder	factor V Quebec; BDPLT5; platelet-type bleeding di.. [+] factor V Quebec; BDPLT5; platelet-type bleeding disorder 5 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
Scott syndrome	familial prothrombin conversion defect; familial p.. [+] familial prothrombin conversion defect; familial prothrombin consumption inhibitor; BDPLT7; bleeding abnormality due to deficiency of platelet biding of factor X; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
hyperphosphatemic familial tumoral calcinosis	familial Teutschlaender disease; familial hyperpho.. [+] familial Teutschlaender disease; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; cortical hyperostosis with hyperphosphatemia; 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. [-]
progressive familial heart block	familial PCCD; familial progressive heart block; f.. [+] familial progressive heart block; familial PCCD; familial Lev-Lenegre disease; familial Lev disease; familial Lenegre disease; hereditary bundle branch defect; PFHB [-]	A heart conduction disease characterized by autoso..[+] A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. [-]
tibial muscular dystrophy	Finnish tibial muscular dystrophy; distal titinopa.. [+] Finnish tibial muscular dystrophy; distal titinopathy; Tardive tibial muscular dystrophy; TMD; Udd myopathy; Udd type distal myopathy [-]	A distal muscular dystrophy characterized by autos..[+] A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
maturity-onset diabetes of the young type 5	familial hypoplastic glomerulocystic kidney; atypi.. [+] familial hypoplastic glomerulocystic kidney; atypical familial juvenile hyperuricemic nephropathy; atypical FJHN; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; 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. [-]
isolated ectopia lentis	familial ectopia lentis; IEL	A lens disease characterized by abnormal stretchin..[+] A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. [-]
congenital mirror movement disorder	familial congenital mirror movements; familial con.. [+] familial congenital mirror movements; familial congenital controlateral synkinesia; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
postural orthostatic tachycardia syndrome	familial orthostatic tachycardia due to norepineph.. [+] familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	Finkel disease; Finkel late-adult type SMA; autoso.. [+] Finkel late-adult type SMA; Finkel disease; autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]

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