Rare Disease Database

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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

* También disponible en español


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)

* También disponible en español



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

* También disponible en español


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



NORD Rare Disease Report
Acquired Hemophilia

Also known as: acquired hemophilia A (AHA) acquired hemophilia B (AHB)