Rare Disease Database

Atrioventricular Septal Defect

Also known as: Atrioventricular Canal Defects AVSD Common Atrioventricular Canal (CAVC) Defect Endocardial Cushion Defects

Atypical Hemolytic Uremic Syndrome

Also known as: aHUS familial hemolytic-uremic syndrome hereditary hemolytic-uremic syndrome

Auditory Neuropathy Spectrum Disorder

Also known as: auditory de-synchrony auditory neuropathy (AN) auditory dyssynchrony ANSD auditory mismatch

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Autoimmune Blistering Diseases

Also known as: autoimmune bullous disorders

Autoimmune Hepatitis

Also known as: AIH autoimmune chronic active hepatitis lupoid hepatitis

Autoimmune Polyendocrine Syndrome Type II

Also known as: Diabetes Mellitus, Addison's Disease, Myxedema Multiple Endocrine Deficiency Syndrome, Type II PGA II Polyglandular Autoimmune Syndrome, Type II Polyglandular Deficiency Syndrome, Type II Schmidt Syndrome

Autoimmune Polyglandular Syndrome Type 1

Also known as: APS-1 APS type 1 autoimmune-polyendocrine-candidiasis-ectodermal dystrophy syndrome autoimmune polyendocrinopathy type 1 (APECED) polyglandular autoimmune (PGA) syndrome type 1

Autoinflammation with Infantile Enterocolitis

Also known as: AIFEC

Autosomal Dominant Hereditary Ataxia

Also known as: episodic ataxia spinocerebellar ataxia

Autosomal Dominant Hyper IgE Syndrome

Also known as: AD-HIES HIES HIE syndrome hyperimmunoglobulin E recurrent infection syndrome Job syndrome, autosomal dominant

Autosomal Dominant Polycystic Kidney Disease

Also known as: ADPKD

Autosomal Dominant Porencephaly Type I

Autosomal Dominant Tubulo-Interstitial Kidney Disease

Also known as: uromodulin kidney disease (UKD) mucin-1 kidney disease (MKD) familial juvenile hyperuricemic nephropathy medullary cystic kidney disease renin associated kidney disease uromodulin associated kidney disease medullary cystic kidney disease type 1 medullary cystic kidney disease type 2 ADTKD

Autosomal Recessive Hyper IgE Syndrome

Also known as: AR-HIES HIES HIE syndrome hyperimmunoglobulin E recurrent infection syndrome Job syndrome, autosomal recessive

Autosomal Recessive Hypophosphatemic Rickets Type 2

Also known as: ARHR2 ENPP1 deficiency

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