Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
ASAH1-Related Disorders

Also known as: acid ceramidase deficiency Farber disease Farber lipogranulomatosis

NORD Rare Disease Report
Asherman’s Syndrome

Also known as: intrauterine synechiae uterine synechiae intrauterine adhesions (IUA)

NORD Rare Disease Report
Aspartylglycosaminuria

Also known as: AGA AGU Aspartylglucosaminidase Deficiency Glycosylasparaginase Deficiency

NORD Rare Disease Report
Asphyxiating Thoracic Dystrophy

Also known as: asphyxiating thoracic dysplasia ATD Jeune syndrome thoracic-pelvic-phalangeal dystrophy asphyxiating thoracic chondrodystrophy chondroectodermal dysplasia-like syndrome infantile thoracic dystrophy Jeune thoracic dystrophy

NORD Rare Disease Report
Ataxia Telangiectasia

Also known as: AT cerebello-oculocutaneous telangiectasia immunodeficiency with ataxia telangiectasia Louis-Bar Syndrome

* También disponible en español

NORD Rare Disease Report
Ataxia with Vitamin E Deficiency

Also known as: AVED Familial Isolated Vitamin E Deficiency Isolated Vitamin E Deficiency Friedreich-like ataxia with vitamin E deficiency Friedreich-like ataxia

* También disponible en español

NORD Rare Disease Report
ATR-16 Syndrome

Also known as: alpha-thalassemia-intellectual disability syndrome, chromosome 16-related alpha-thalassemia-intellectual disability syndrome, deletion type

NORD Rare Disease Report
Atransferrinemia

Also known as: congenital atransferrinemia hereditary atransferrinemia hypotransferrinemia

NORD Rare Disease Report
Atrioventricular Septal Defect

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

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