Base de datos de enfermedades raras

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Aarskog Syndrome

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

NORD Rare Disease Report
Abetalipoproteinemia

Also known as: ABL Síndrome de Bassen-Kornzweig Deficiencia de lipoproteínas de baja densidad Deficiencia de proteína de transferencia de triglicéridos microsomal Deficiencia de MTP Hipobetalipoproteinemia familiar por defecto de secreción 1 (FHBL-SD1)

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

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
Aciduria argininosuccínica

Also known as: Deficiencia de arginino succinasa Deficiencia de argininosuccinato liasa Deficiencia de argininosuccinato ácido liasa ASA Deficiencia de ASL deficiency

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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