Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
47, XXX (Trisomy X)

Also known as: 47, XXX 47, XXX karyotype 47, XXX syndrome triple X syndrome triple X XXX syndrome

NORD Rare Disease Report
48, XXYY Syndrome

Also known as: XXYY syndrome 48, XXYY variant of Klinefelter syndrome 48, XXYY Klinefelter syndrome

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NORD Rare Disease Report
Aarskog Syndrome

Also known as: Aarskog disease Aarskog-Scott syndrome AAS faciodigitogenital syndrome faciogenital dysplasia FGDY Scott Aarskog syndrome

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NORD Rare Disease Report
Abetalipoproteinemia

Also known as: ABL Bassen-Kornzweig syndrome low density lipoprotein deficiency microsomal triglyceride transfer protein deficiency MTP deficiency familial hypobetalipoproteinemia due to secretion defect 1 (FHBL-SD1)

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NORD Rare Disease Report
Acanthocheilonemiasis

Also known as: Acanthocheilonemiasis perstans Dipetalonema perstans Dipetalonemiasis Mansonella perstans

NORD Rare Disease Report
Aceruloplasminemia

Also known as: familial apoceruloplasmin deficiency hereditary ceruloplasmin deficiency

NORD Rare Disease Report
Achalasia

Also known as: cardiospasm dyssynergia esophagus esophageal aperistalsis megaesophagus

NORD Rare Disease Report
Achondroplasia

Also known as: ACH achondroplastic dwarfism dwarf, achondroplastic

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NORD Rare Disease Report
Acid Sphingomyelinase Deficiency

Also known as: ASMD ASM Deficiency Acid Sphingomyelinase-deficient Niemann-Pick Disease ASM-deficient Niemann-Pick Disease

NORD Rare Disease Report
Acoustic Neuroma

Also known as: acoustic neurilemoma acoustic neurinoma fibroblastoma, perineural neurinoma of the acoustic nerve neurofibroma of the acoustic nerve schwannoma of the acoustic nerve vestibular schwannoma

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