Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Arteritis, Takayasu

Also known as: Aorta Arch Syndrome Brachiocephalic Ischemia Idiopathic Arteritis of Takayasu Martorell Syndrome Occlusive Thromboaortopathy Pulseless Disease Reverse Coarction Takayasu Disease Young Female Arteritis

NORD Rare Disease Report
Arthritis, Infectious

Also known as: Bacterial Arthritis Purulent Arthritis Pyarthrosis Pyogenic Arthritis Septic Arthritis Suppurative Arthritis

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

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