To Top

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

AEC Syndrome

Also known as: ankyloblepharon-ectodermal defects-cleft lip/palate, ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome, Hay-Wells syndrome, Rapp-Hodgkin syndrome

Ahumada-Del Castillo Syndrome

Also known as: Amenorrhea-Galactorrhea-FSH Decrease Syndrome, Argonz-Del Castillo Syndrome, Galactorrhea-Amenorrhea without Pregnancy, Nonpuerperal Galactorrhea-Amenorrhea

Aicardi Syndrome

Also known as: agenesis of corpus callosum with chorioretinitis abnormality, agenesis of corpus callosum with infantile spasms and ocular anomalies, callosal agenesis and ocular abnormalities, chorioretinal anomalies with ACC, corpus callosum, agenesis of chorioretinal abnormality

AIDS Dysmorphic Syndrome

Also known as: Dysmorphic Acquired Immune Deficiency Syndrome, Dysmorphic AIDS, Fetal Acquired Immune Deficiency Syndrome (AIDS), Fetal AIDS Infection, Fetal Effects of AIDS, HIV Embryopathy, Perinatal AIDS

ALAD Porphyria

Also known as: ADP, ALAD deficiency, ALA-dehydratase deficient porphyria, delta-aminolevulinate dehydratase deficiency, Doss porphyria, porphyria of Doss

Alagille Syndrome

Also known as: Alagille-Watson syndrome, arteriohepatic dysplasia, cholestasis with peripheral pulmonary stenosis, syndromic bile duct paucity, ALGS

Alexander Disease

Also known as: dysmyelogenic leukodystrophy, dysmyelogenic leukodystrophy-megalobare, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, hyaline panneuropathy, leukodystrophy with rosenthal fibers, megalencephaly with hyaline inclusion, megalencephaly with hyaline panneuropathy

Alopecia Areata

Also known as: Alopecia Celsi, Alopecia Cicatrisata, Alopecia Circumscripta, Cazenave's Vitiligo, Celsus' Vitiligo, Jonston's Alopecia, Porrigo Decalvans, Vitiligo Capitis

Alpers Disease

Also known as: Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis, Alpers Progressive Infantile Poliodystrophy, Diffuse Cerebral Degeneration in Infancy, Poliodystrophia Cerebri Progressiva, Progressive Cerebral Poliodystrophy

Alpha Thalassemia X-linked Intellectual Disability Syndrome

Also known as: ATR-X syndrome, Carpenter-Waziri syndrome, cerebrofaciogenital syndrome, Chudley-Lowry syndrome, Holmes-Gang syndrome, XLID-hypotonic face syndrome, X-linked intellectual disability - arch fingerprints- hypotonia syndrome


Also known as: alpha-mannosidase B deficiency, lysosomal alpha-D-mannosidase deficiency, mannosidase, alpha B, lysosomal, mannosidosis, mannosidosis, alpha B, lysosomal