Base de datos de enfermedades raras

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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
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
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



NORD Rare Disease Report
Acquired Hemophilia

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