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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: alpha-mannosidase B deficiency, lysosomal alpha-D-mannosidase deficiency, mannosidase, alpha B, lysosomal, mannosidosis, mannosidosis, alpha B, lysosomal
Subdivisions: alpha-mannosidosis, type I, alpha-mannosidosis, type II, alpha-mannosidosis, type III

Alport Syndrome

Also known as: hematuria-nephropathy deafness (former), hemorrhagic familial nephritis (former), hereditary deafness and nephropathy (former), hereditary nephritis (former), hereditary nephritis with sensory deafness (former)
Subdivisions: autosomal dominant Alport syndrome (ADAS), autosomal recessive Alport syndrome (ARAS), X-linked Alport syndrome (XLAS)


Also known as: Adamantinoma, Mandibular Ameloblastoma, Maxillary Ameloblastoma, Odontogenic Tumor

Amelogenesis Imperfecta

Also known as: AI
Subdivisions: hypoplastic (type I), hypomaturation (type II), hypocalcified (type III), hypomaturation/hypoplasia/taurodontism (type IV)

Amniotic Band Syndrome

Also known as: ABS, amnion rupture sequence, amniotic bands, amniotic band sequence, amniotic deformity, adhesions, mutilations (ADAM) complex, congenital constriction rings, constriction band syndrome, limb body wall complex, Streeter anomaly, Streeter bands, Streeter dysplasia


Subdivisions: AL amyloidosis, ATTR amyloidosis – ATTRm or ATTRwt amyloidosis, AA amyloidosis, dialysis-related beta2-microglobulin amyloidosis (ABM2)

Andersen Disease (GSD IV)

Also known as: amylopectinosis, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV

Anemia, Hemolytic, Acquired Autoimmune

Also known as: Anemia, Idiopathic Autoimmune Hemolytic, Autoimmune Hemolytic Anemia, Idiopathic Autoimmune Hemolytic Anemia, Immune Hemolytic Anemia
Subdivisions: Anemia, Cold Antibody Hemolytic, Anemia, Warm Antibody Hemolytic

Anemia, Megaloblastic

Also known as: Folate Deficiency Anemia, Folic Acid Deficiency Anemia, Vitamin B12 Deficiency Anemia