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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

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Also known as: hereditary diffuse leukoencephalopathy with spheroids (HDLS) , leukoencephalopathy, diffuse hereditary, with spheroids , adult-onset leukodystrophy with neuroaxonal spheroids , autosomal dominant leukoencephalopathy with neuroaxonal spheroids , neuroaxonal leukodystrophy , pigmentary orthochromatic leukodystrophy (POLD) , CSF1R-related leukoencephalopathy , ALSP

Adult-Onset Still’s Disease

Also known as: adult Still's disease, AOSD, Wissler-Fanconi syndrome
Subdivisions: monophasic AOSD, polyphasic (intermittent) AOSD, chronic AOSD

AEC Syndrome

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


Also known as: hypogammaglobulinemia
Subdivisions: autosomal recessive agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia (XLA)

Agenesis of Corpus Callosum

Also known as: ACC, Corpus Callosum, Agenesis
Subdivisions: Acquired Form of ACC, Aicardi Syndrome, Autosomal Recessive Inheritance ACC (e.g. Andermann syndrome), X-Linked Dominant Inheritance ACC (e.g. ARX)

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
Subdivisions: No subdivisions found

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
Subdivisions: Alopecia Seminuniversalis, Alopecia Totalis, Alopecia Universalis

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

Subdivisions: Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis

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