GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
17q23.1q23.2 microdeletion syndrome

Also known as: 17q23.1-q23.2 microdeletion syndrome Del(17)(q23.1q23.2) Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 Chromosome 17q23.1-q23.2 deletion syndrome

GARD Summary
18 Hydroxylase deficiency

Also known as: Aldosterone deficiency due to defect in 18 hydroxylase Aldosterone deficiency 1 18 alpha hydroxylase deficiency Corticosterone methyloxidase type 1 deficiency CMO 1 deficiency

GARD Summary
1q duplications

Also known as: Partial trisomy 1q Partial duplication of the long arm of chromosome 1 Partial duplication of chromosome 1q Partial trisomy of chromosome 1q Partial trisomy of the long arm of chromosome 1

GARD Summary
21-hydroxylase deficiency

Also known as: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency CYP21 deficiency 21 hydroxylase deficiency Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

GARD Summary
22q11.2 deletion syndrome

Also known as: Chromosome 22q11.2 deletion syndrome Velocardiofacial syndrome VCFS DiGeorge syndrome Shprintzen syndrome Sedlackova syndrome CATCH22 Autosomal dominant Opitz G/BBB syndrome Conotruncal anomaly face syndrome Cayler cardiofacial syndrome

GARD Summary
22q11.2 duplication syndrome

Also known as: 22q11.2 duplication 22q11.2 microduplication syndrome Chromosome 22q11.2 duplication syndrome

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