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Rare Disease Information

Rare Disease Database

Enhancements to NORD’s Rare Disease Database and website were made possible through a grant from the Anthem Foundation, the charitable arm of Anthem, Inc.

NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. Medical experts and representatives of patient organizations who would like to assist NORD in developing reports on topics not currently covered in this database may write to [email protected].


Rare Disease Database

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


Also known as: acrodysostosis with or without hormone resistance, Arkless-Graham syndrome, Maroteaux-Malamut syndrome

Acromesomelic Dysplasia

Also known as: acromesomelic dwarfism
Subdivisions: acromesomelic dysplasia, Maroteaux type, acromesomelic dysplasia, Osebold-Remondini type, acromesomelic dysplasia with genital anomalies, fibular hypoplasia and complex brachydactyly (Du Pan syndrome), Grebe dysplasia (including Hunter-Thompson type)

ACTH Deficiency

Also known as: adrenocorticotropic hormone deficiency, isolated

Acute Cholecystitis

Also known as: acute acalculous cholecystitis (AAC), acute calculous cholecystitis

Acute Myeloid Leukemia

Also known as: acute granulocytic leukemia, acute myelogenous leukemia, acute myelogenous leukemia, acute nonlymphocytic leukemia, AML

Acute Respiratory Distress Syndrome

Also known as: acute lung injury, adult respiratory distress syndrome, ARDS, noncardiogenic pulmonary edema, increased-permeability pulmonary edema

Adams-Oliver Syndrome

Also known as: limb scalp and skull defects, AOS, congenital scalp defects with distal limb anomalies, congenital scalp defects with distal limb reduction anomalies, limb, scalp, and skull defects, Adams Oliver syndrome

ADCY5-Related Dyskinesia

Subdivisions: familial dyskinesia with facial myokymia (FDFM), variant of familial benign chorea

Addison’s Disease

Also known as: chronic adrenocortical insufficiency, primary adrenal insufficiency, primary failure adrenocortical insufficiency
Subdivisions: No subdivisions found

Adenylosuccinate Lyase Deficiency

Also known as: adenylosuccinase deficiency, succinylpurinemic autism, ADSL deficiency
Subdivisions: adenylosuccinate lyase deficiency fatal neonatal form, adenylosuccinate lyase deficiency type I (severe form), adenylosuccinate lyase deficiency type II (mild/moderate form)

Adie Syndrome

Also known as: Adie's Pupil, Adie's Syndrome, Adie's Tonic Pupil, Holmes-Adie Syndrome, tonic pupil syndrome

ADNP Syndrome

Also known as: ADNP-related intellectual disability, autism-related spectrum disorder, Helsmoortel-Van Der Aa syndrome (HVDAS)