GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
7q11.23 duplication syndrome

Also known as: Williams-Beuren region duplication syndrome WBS duplication syndrome Chromosome 7q11.23 duplication syndrome Somerville-Van Der AA syndrome Dup(7)(q11.23) Trisomy 7q11.23 7q11.23 microduplication syndrome

GARD Summary
Aagenaes syndrome

Also known as: Cholestasis lymphedema syndrome CHLS LCS LCS1 Lymphedema cholestasis syndrome

GARD Summary
Aarskog syndrome

Also known as: Aarskog Scott syndrome Faciodigitogenital syndrome Faciogenital dysplasia Aarskog disease FGDY Scott Aarskog syndrome

GARD Summary
Abetalipoproteinemia

Also known as: Bassen Kornzweig syndrome Microsomal triglyceride transfer protein deficiency disease Microsomal triglyceride transfer protein deficiency ABL Abetalipoproteinemia neuropathy Apolipoprotein B deficiency Betalipoprotein deficiency disease Congenital betalipoprotein deficiency syndrome MTP deficiency Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia

GARD Summary
Ablepharon macrostomia syndrome

Also known as: AMS Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies

GARD Summary
ABri amyloidosis

Also known as: FBD Cerebral amyloid angiopathy, British type Presenile dementia with spastic ataxia Familial British dementia Familial dementia, British type

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