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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
legume allergy
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Fabaceae allergy
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A fruit allergy triggered by Fabaceae (legume) pla.. [+]
A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
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ITM2B-related cerebral amyloid angiopathy 1
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Familial British Dementia; FBD; Cerebral Amyloid A..
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FBD; Familial British Dementia; Cerebral Amyloid Angiopathy, British Type; Presenile Dementia with Spastic Ataxia
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A cerebral amyloid angiopathy characterized by ons.. [+]
A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.
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ITM2B-related cerebral amyloid angiopathy 2
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Familial Danish Dementia; FDD; Cerebellar Ataxia, ..
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FDD; Familial Danish Dementia; Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Heredopathia Ophthalmootoencephalica; HOOE
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A cerebral amyloid angiopathy characterized by ata.. [+]
A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
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Coffin-Siris syndrome 1
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fifth digit syndrome; autosomal dominant mental re..
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fifth digit syndrome; autosomal dominant mental retardation 12; CSS1; MRD12
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A Coffin-Siris syndrome that has_material_basis_in.. [+]
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
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progressive familial intrahepatic cholestasis 1
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FIC1 deficiency; PFIC1
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A progressive familial intrahepatic cholestasis ch.. [+]
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
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Loeys-Dietz syndrome 2
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familial throacic aortic aneurysm 3; AAT3; LDS2; M..
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familial throacic aortic aneurysm 3; AAT3; LDS2; Marfan syndrome type II
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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.
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Loeys-Dietz syndrome 1
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Furlong syndrome; familial throacic aortic aneurys..
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Furlong syndrome; familial throacic aortic aneurysm 5; AAT5; LDS1
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A Loeys-Dietz syndrome that has_material_basis_in .. [+]
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
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primary coenzyme Q10 deficiency 6
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familial steroid-resistant nephrotic syndrome with..
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familial steroid-resistant nephrotic syndrome with sensorineural deafness; coenzyme Q10 deficiency, primary, 6; COQ10D6
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A primary coenzyme Q10 deficiency that has_materia.. [+]
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
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Lynch syndrome 1
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familial nonpolyposis colon cancer type 1; FCC1; h..
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FCC1; familial nonpolyposis colon cancer type 1; hereditary nonpolyposis colorectal cancer type 1; HNPCC1
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A Lynch syndrome that has_material_basis_in hetero.. [+]
A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
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hereditary nonpolyposis colorectal cancer type 2
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familial nonpolyposis colon cancer type 2; FCC2; C..
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FCC2; familial nonpolyposis colon cancer type 2; COCA2; HNPCC2
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A Lynch syndrome that has_material_basis_in hetero.. [+]
A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.
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multiple mitochondrial dysfunctions syndrome
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fatal multiple mitochondrial dysfunction syndrome; ..
[+]
fatal multiple mitochondrial dysfunction syndrome
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A mitochondrial metabolism disease that is charact.. [+]
A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment.
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spinal neurofibromatosis
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FNSF; familial spinal neurofibromatosis; SNF
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A neurofibromatosis 1 characterized by bilateral n.. [+]
A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.
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myofibrillar myopathy 5
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filaminopathy
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A myofibrillar myopathy that has_material_basis_in.. [+]
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
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mitochondrial DNA depletion syndrome 9
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fatal infantile lactic acidosis
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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.
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mitochondrial DNA depletion syndrome 13
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FBXL4-related encephalomyopathic mitochondrial DNA..
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FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; FBXL4 deficiency; mitochondrial DNA depletion syndrome 13, encephalomyopathic type
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A mitochondrial DNA depletion syndrome that is cha.. [+]
A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.
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bicuspid aortic valve disease
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Familial bicuspid aortic valve
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An aortic valve disease that is characterized by t.. [+]
An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.
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mitochondrial complex IV deficiency nuclear type 2
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fatal infantile cardioencephalomyopathy due to cyt..
[+]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; MC4DN2
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A COX deficiency, infantile mitochondrial myopathy.. [+]
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
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mitochondrial complex IV deficiency nuclear type 6
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fatal infantile cardioencephalomyopathy due to cyt..
[+]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2; MC4DN6
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A COX deficiency, infantile mitochondrial myopathy.. [+]
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
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mitochondrial complex IV deficiency nuclear type 9
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fatal infantile cardioencephalomyopathy due to cyt..
[+]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3; MC4DN9
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A COX deficiency, infantile mitochondrial myopathy.. [+]
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
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mitochondrial complex IV deficiency nuclear type 13
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fatal infantile cardioencephalomyopathy due to cyt..
[+]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4; MC4DN13
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A COX deficiency, infantile mitochondrial myopathy.. [+]
A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
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trimethylaminuria
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fish-odor syndrome
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An inherited metabolic disorder characterized by t.. [+]
An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.
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nephrotic syndrome type 1
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Finnish congenital nephrosis
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A familial nephrotic syndrome characterized by pre.. [+]
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
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myxofibrosarcoma
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fibromyxoid sarcoma
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A sarcoma that arises from the soft tissue and is .. [+]
A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
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primary ovarian insufficiency 1
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FMR1-related primary ovarian insufficiency; Fragil..
[+]
FMR1-related primary ovarian insufficiency; Fragile X-associated primary ovarian insufficiency; premature ovarian failure 1
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A primary ovarian insufficiency that has_material_.. [+]
A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).
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primary localized cutaneous amyloidosis 1
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familial primary localized cutaneous amyloidosis-1..
[+]
familial primary localized cutaneous amyloidosis-1
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A primary cutaneous amyloidosis that has_material_.. [+]
A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.
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primary hypoalphalipoproteinemia 1
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familial hypoalphalipoproteinemia; familial HDL de..
[+]
familial hypoalphalipoproteinemia; familial HDL deficiency
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A hypolipoproteinemia that is characterized by low.. [+]
A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
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X-linked intellectual developmental disorder 109
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Fragile XE syndrome; fragile site on chromosome Xq..
[+]
Fragile XE syndrome; fragile site on chromosome Xq28
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A syndromic X-linked intellectual disability chara.. [+]
A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
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DeSanto-Shinawi syndrome
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Facial dysmorphism-developmental delay-behavioral ..
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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Chromosome 10p12-p11 deletion syndrome; WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
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A syndrome that is characterized by global develop.. [+]
A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
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pulmonary venoocclusive disease 2
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FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS
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A pulmonary venoocclusive disease that has_materia.. [+]
A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.
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Paget's disease of bone 5
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Familial osteoectasia; Hereditary hyperphosphatasi..
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Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget disease of bone-5
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A Paget's disease of bone that is characterized by.. [+]
A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24.
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autosomal dominant familial periodic fever
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familial Hibernian fever; FHF; FPF; familial hiber..
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FPF; FHF; familial Hibernian fever; familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; TNF receptor 1-associated periodic syndrome; hibernian fever; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome
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A primary immunodeficiency disease characterized b.. [+]
A primary immunodeficiency disease characterized by 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.
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hypogonadotropic hypogonadism 12 with or without anosmia
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familial hypogonadotrophic eunuchoidism; familial ..
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familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency
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A hypogonadotropic hypogonadism that has_material_.. [+]
A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21.
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hypogonadotropic hypogonadism 23 with or without anosmia
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fertile eunuch syndrome; 46,XY disorder of sex dev..
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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
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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.
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lethal congenital glycogen storage disease of heart
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fatal congenital nonlysosomal cardiac glycogenosis..
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fatal congenital nonlysosomal cardiac glycogenosis; fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital nonlysosomal cardiac glycogenosis; phosphorylase kinase deficiency of heart
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A glycogen storage disease characterized by glycog.. [+]
A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
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autosomal recessive hypercholesterolemia
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FHCB1; familial autosomal recessive hypercholester..
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FHCB1; familial autosomal recessive hypercholesterolemia; FHCB2; familial autosomal recessive hypercholesterolemia; ARH; ARH2; autosomal recessive hypercholesterolemia 1; ARH1; autosomal recessive hypercholesterolemia 2
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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.
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aromatase excess syndrome
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familial hyperestrogenism; AEXS; increased aromata..
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familial hyperestrogenism; AEXS; increased aromatase activity; hereditary prepubertal gynecomastia
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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.
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camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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familial fibrosing serositis; CACP; CACP syndrome; ..
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familial fibrosing serositis; CACP; CACP syndrome; congenital familial hypertrophic synovitis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome
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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.
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Donnai-Barrow syndrome
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FOAR syndrome; faciooculoacousticorenal syndrome; ..
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faciooculoacousticorenal syndrome; FOAR syndrome; facio-oculo-acoustico-renal syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; DBS/FOAR syndrome
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A syndrome that is characterized by facial and ocu.. [+]
A syndrome that is 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 LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
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advanced sleep phase syndrome 1
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FASPS1; familial advanced sleep phase syndrome 1
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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.
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advanced sleep phase syndrome 2
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FASPS2; familial advanced sleep phase syndrome 2
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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.
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advanced sleep phase syndrome 3
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FASPS3; familial advanced sleep phase syndrome 3
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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.
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arrhythmogenic right ventricular dysplasia 1
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 1; arrhythmogenic right ventricular cardiomyopathy 1; ARVC1; ARVD1; Uhl anomaly
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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.
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arrhythmogenic right ventricular dysplasia 3
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 3; arrhythmogenic right ventricular cardiomyopathy 3; ARVC3; ARVD3
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An arrhythmogenic right ventricular dysplasia asso.. [+]
An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
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arrhythmogenic right ventricular dysplasia 4
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 4; fanilial arrhythmogenic right ventricular dysplasia 4; arrhythmogenic right ventricular cardiomyopathy 4; ARVC4; ARVD4
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An arrhythmogenic right ventricular dysplasia asso.. [+]
An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
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arrhythmogenic right ventricular dysplasia 5
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 5; ARVC5; arrhythmogenic right ventricular cardiomyopathy 5; ARVD5
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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.
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arrhythmogenic right ventricular dysplasia 6
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 6; arrhythmogenic right ventricular cardiomyopathy 6; ARVD6; ARVC6
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An arrhythmogenic right ventricular dysplasia asso.. [+]
An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
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arrhythmogenic right ventricular dysplasia 8
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 8; arrhythmogenic right ventricular cardiomyopathy 8; ARVD8; ARVC8
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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.
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arrhythmogenic right ventricular dysplasia 9
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 9; ARVC9; arrhythmogenic right ventricular cardiomyopathy 9; ARVD9
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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.
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arrhythmogenic right ventricular dysplasia 10
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 10; arrhythmogenic right ventricular cardiomyopathy 10; ARVD10; ARVC10
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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.
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arrhythmogenic right ventricular dysplasia 11
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familial arrhythmogenic right ventricular dysplasi..
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familial arrhythmogenic right ventricular dysplasia 11; arrhythmogenic right ventricular cardiomyopathy 11; ARVD11; ARVC11
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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.
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