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Rare Disease Information

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

Angioimmunoblastic T-Cell Lymphoma

Also known as: AILD, AITL, angioimmunoblastic lymphadenopathy with dysproteinemia, immunoblastic lymphadenopathy, lymphogranulomatosis X

Aniridia Cerebellar Ataxia Mental Deficiency

Also known as: Aniridia-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Mental Retardation, Aniridia, Partial-Cerebellar Ataxia-Oligophrenia, Gillespie Syndrome


Also known as: Black Baine, Malignant Edema, Malignant Pustule, Ragpicker Disease, Siberian Plague, Woolsorter's disease

Antiphospholipid Syndrome

Also known as: antiphospholipid antibody syndrome, APS, APLS, Hughes syndrome, lupus anticoagulant syndrome

Antley-Bixler Syndrome

Also known as: ABS, craniosynostosis, choanal atresia, radial humeral synostosis, trapezoidocephaly-multiple synostosis syndrome

Aplasia Cutis Congenita

Also known as: ACC, Congenital Defect of the Skull and Scalp, Congenital ulcer of the newborn, Scalp Defect Congenital

Appendiceal Cancer and Tumors

Also known as: low grade mucinous neoplasm of the appendix (LAMN), high grade mucinous neoplasms of the appendix (HAMN), mucinous adenocarcinoma of the appendix, adenocarcinoma of the appendix, signet ring cell cancer of the appendix, goblet cell carcinoid , cystadenocarcinoma, nonmucinous adenocarcinoma, colonic type adenocarcinoma

Argininosuccinic Aciduria

Also known as: arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA , ASL deficiency