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Disease Synonyms Description Articles Phenotypes
ITM2B-related cerebral amyloid angiopathy 1
Familial British Dementia; FBD; Cerebral Amyloid A.. [+]
A cerebral amyloid angiopathy characterized by ons..[+]
ITM2B-related cerebral amyloid angiopathy 2
Familial Danish Dementia; FDD; Cerebellar Ataxia, .. [+]
A cerebral amyloid angiopathy characterized by ata..[+]
Coffin-Siris syndrome 1
fifth digit syndrome; autosomal dominant mental re.. [+]
A Coffin-Siris syndrome that has_material_basis_in..[+]
progressive familial intrahepatic cholestasis 1
FIC1 deficiency; PFIC1
A progressive familial intrahepatic cholestasis ch..[+]
Loeys-Dietz syndrome 2
familial throacic aortic aneurysm 3; AAT3; LDS2; M.. [+]
A Loeys-Dietz syndrome that has_material_basis_in ..[+]
Loeys-Dietz syndrome 1
Furlong syndrome; familial throacic aortic aneurys.. [+]
A Loeys-Dietz syndrome that has_material_basis_in ..[+]
primary coenzyme Q10 deficiency 6
familial steroid-resistant nephrotic syndrome with.. [+]
A primary coenzyme Q10 deficiency that has_materia..[+]
Lynch syndrome 1
familial nonpolyposis colon cancer type 1; FCC1; h.. [+]
A Lynch syndrome that has_material_basis_in hetero..[+]
hereditary nonpolyposis colorectal cancer type 2
familial nonpolyposis colon cancer type 2; FCC2; C.. [+]
A Lynch syndrome that has_material_basis_in mutati..[+]
multiple mitochondrial dysfunctions syndrome
fatal multiple mitochondrial dysfunction syndrome; .. [+]
A mitochondrial metabolism disease that is charact..[+]
spinal neurofibromatosis
FNSF; familial spinal neurofibromatosis; SNF
A neurofibromatosis 1 characterized by bilateral n..[+]
myofibrillar myopathy 5
filaminopathy
A myofibrillar myopathy that has_material_basis_in..[+]
mitochondrial DNA depletion syndrome 9
fatal infantile lactic acidosis
A mitochondrial DNA depletion syndrome that is cha..[+]
mitochondrial DNA depletion syndrome 13
FBXL4-related encephalomyopathic mitochondrial DNA.. [+]
A mitochondrial DNA depletion syndrome that is cha..[+]
bicuspid aortic valve disease
Familial bicuspid aortic valve
An aortic valve disease that is characterized by t..[+]
mitochondrial complex IV deficiency nuclear type 2
fatal infantile cardioencephalomyopathy due to cyt.. [+]
A COX deficiency, infantile mitochondrial myopathy..[+]
mitochondrial complex IV deficiency nuclear type 6
fatal infantile cardioencephalomyopathy due to cyt.. [+]
A COX deficiency, infantile mitochondrial myopathy..[+]
mitochondrial complex IV deficiency nuclear type 9
fatal infantile cardioencephalomyopathy due to cyt.. [+]
A COX deficiency, infantile mitochondrial myopathy..[+]
mitochondrial complex IV deficiency nuclear type 13
fatal infantile cardioencephalomyopathy due to cyt.. [+]
A COX deficiency, infantile mitochondrial myopathy..[+]
trimethylaminuria
fish-odor syndrome
An inherited metabolic disorder characterized by t..[+]
nephrotic syndrome type 1
Finnish congenital nephrosis
A familial nephrotic syndrome characterized by pre..[+]
myxofibrosarcoma
fibromyxoid sarcoma
A sarcoma that arises from the soft tissue and is ..[+]
primary ovarian insufficiency 1
FMR1-related primary ovarian insufficiency; Fragil.. [+]
A primary ovarian insufficiency that has_material_..[+]
primary localized cutaneous amyloidosis 1
familial primary localized cutaneous amyloidosis-1.. [+]
A primary cutaneous amyloidosis that has_material_..[+]
primary hypoalphalipoproteinemia 1
familial hypoalphalipoproteinemia; familial HDL de.. [+]
A hypolipoproteinemia that is characterized by low..[+]
X-linked intellectual developmental disorder 109
Fragile XE syndrome; fragile site on chromosome Xq.. [+]
A syndromic X-linked intellectual disability chara..[+]
DeSanto-Shinawi syndrome
Facial dysmorphism-developmental delay-behavioral .. [+]
A syndrome that is characterized by global develop..[+]
pulmonary venoocclusive disease 2
FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS
A pulmonary venoocclusive disease that has_materia..[+]
Paget's disease of bone 5
Familial osteoectasia; Hereditary hyperphosphatasi.. [+]
A Paget's disease of bone that is characterized by..[+]
autosomal dominant familial periodic fever
familial Hibernian fever; FHF; FPF; familial hiber.. [+]
A primary immunodeficiency disease characterized b..[+]
hypogonadotropic hypogonadism 12 with or without anosmia
familial hypogonadotrophic eunuchoidism; familial .. [+]
A hypogonadotropic hypogonadism that has_material_..[+]
hypogonadotropic hypogonadism 23 with or without anosmia
fertile eunuch syndrome; 46,XY disorder of sex dev.. [+]
A hypogonadotropic hypogonadism that has_material_..[+]
lethal congenital glycogen storage disease of heart
fatal congenital nonlysosomal cardiac glycogenosis.. [+]
A glycogen storage disease characterized by glycog..[+]
autosomal recessive hypercholesterolemia
FHCB1; familial autosomal recessive hypercholester.. [+]
A familial hypercholesterolemia that is characteri..[+]
aromatase excess syndrome
familial hyperestrogenism; AEXS; increased aromata.. [+]
A reproductive system disease characterized by inc..[+]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
familial fibrosing serositis; CACP; CACP syndrome; .. [+]
A syndrome that is characterized by congenital or ..[+]
Donnai-Barrow syndrome
FOAR syndrome; faciooculoacousticorenal syndrome; .. [+]
A syndrome that is characterized by facial and ocu..[+]
advanced sleep phase syndrome 1
FASPS1; familial advanced sleep phase syndrome 1
An advanced sleep phase syndrome that has_material..[+]
advanced sleep phase syndrome 2
FASPS2; familial advanced sleep phase syndrome 2
An advanced sleep phase syndrome that has_material..[+]
advanced sleep phase syndrome 3
FASPS3; familial advanced sleep phase syndrome 3
An advanced sleep phase syndrome that has_material..[+]
arrhythmogenic right ventricular dysplasia 1
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 3
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia asso..[+]
arrhythmogenic right ventricular dysplasia 4
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia asso..[+]
arrhythmogenic right ventricular dysplasia 5
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 6
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia asso..[+]
arrhythmogenic right ventricular dysplasia 8
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 9
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 10
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 11
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]
arrhythmogenic right ventricular dysplasia 12
familial arrhythmogenic right ventricular dysplasi.. [+]
An arrhythmogenic right ventricular dysplasia that..[+]

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