Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Agranulocytosis, Acquired

Also known as: Agranulocytic Angina Granulocytopenia, Primary Neutropenia, Malignant

NORD Rare Disease Report
Ahumada-Del Castillo Syndrome

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

NORD Rare Disease Report
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

NORD Rare Disease Report
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

NORD Rare Disease Report
ALAD Porphyria

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

NORD Rare Disease Report
Alagille Syndrome

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

NORD Rare Disease Report
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

NORD Rare Disease Report
Alkaptonuria

Also known as: AKU alcaptonuria

NORD Rare Disease Report
Alopecia Areata

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

NORD Rare Disease Report
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

NORD Rare Disease Report
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

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