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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

Anemia, Pernicious

Also known as: Addison-Biermer Anemia, Addisonian Pernicious Anemia, Addison's Anemia, Primary Anemia
Subdivisions: Adult Onset Pernicious Anemia, Congenital Pernicious Anemia due to Defect of Intrinsic Factor, Enterocyte Cobalamin Malabsorption, Enterocyte Intrinsic Factor Receptor, Defect of, Gastric Intrinsic Factor, Failure of Secretion, Juvenile Intestinal Malabsorption of Vit B12

Angelman Syndrome

Also known as: AS, happy puppet syndrome (obsolete)
Subdivisions: No subdivisions found

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
Subdivisions: Cutaneous Anthrax, Gastrointestinal Anthrax, Inhalational Anthrax

Antiphospholipid Syndrome

Also known as: antiphospholipid antibody syndrome, APS, APLS, Hughes syndrome, lupus anticoagulant syndrome
Subdivisions: primary antiphospholipid syndrome , secondary antiphospholipid syndrome, catastrophic antiphospholipid syndrome

Antithrombin Deficiency

Also known as: AT 3, AT III deficiency, thrombophilia, hereditary, due to AT III
Subdivisions: antithrombin III deficiency, classical (type I), AT III variant IlA, AT III variant IlB

Antley-Bixler Syndrome

Also known as: ABS, craniosynostosis, choanal atresia, radial humeral synostosis, trapezoidocephaly-multiple synostosis syndrome
Subdivisions: ABS1, ABS2

Aplasia Cutis Congenita

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

Apnea, Infantile

Also known as: Infantile Sleep Apnea
Subdivisions: Central Apnea, Diaphragmatic Apnea, Mixed Apnea, Obstructive Apnea, Upper Airway Apnea

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
Subdivisions: goblet cell carcinoid , low-grade mucinous neoplasm of the appendix (LAMN), high-grade mucinous neoplasm of the appendix (HAMN), adenocarcinoma: well-differentiated, adenocarcinoma: moderately-differentiated, adenocarcinoma: poorly-differentiated, adenocarcinoma: signet ring cell (SRC)


Subdivisions: Apraxia, Buccofacial, Apraxia, Classic, Apraxia, Constructional, Apraxia, Ideational, Apraxia, Ideokinetic, Apraxia, Ideomotor, Apraxia, Motor, Apraxia, Oculomotor

Arachnoid Cysts

Also known as: cysts, arachnoid
Subdivisions: intracranial arachnoid cysts, spinal arachnoid cysts