Genetic Condition Education

Genetic Condition Education

Genetic Terms Glossary

View our Glossary of Genetic Terms. These terms are underlined throughout our website with a pink dotted line. Just hover off the words or terms for a quick definition.

Learn More about Genetic Conditions

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Genetic Conditions

15q24 deletion syndrome

2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency

2-methylbutyrylglycinuria

22q11.2 deletion syndrome

22q11.2 duplication syndrome

3-hydroxy-3-methylglutaric aciduria (HMG)

3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

3-methylglutaconic aciduria, type III

Achondrogenesis

Acute intermittent porphyria

Acyl-coa dehydrogenase, medium-chain, deficiency of

Acyl-coa dehydrogenase, short-chain, deficiency of

Acyl-coa dehydrogenase, very long-chain, deficiency of

Adamtsl4-related eye disorders

Adrenoleukodystrophy

Aicardi syndrome

Alagille syndrome

Alpha-1-antitrypsin deficiency

Alpha-mannosidosis

Alpha-thalassemia

Alpha-thalassemia/mental retardation syndrome, x-linked

Alstrom syndrome

Alzheimer disease

Amyloidosis, hereditary, transthyretin-related

Amyotrophic lateral sclerosis 1

Andermann syndrome

Andersen-tawil syndrome

Angelman syndrome

Antley-Bixler syndrome

Argininosuccinic aciduria

Arrhythmogenic right ventricular cardiomyopathy

Autosomal dominant polycystic kidney disease

Bannayan-Riley-Ruvalcaba syndrome

Bardet-Biedl Syndrome

Barrett's esophagus

Beckwith-wiedemann syndrome

Beta-thalassemia

Bethlem Myopathy

Bilateral renal agenesis

Biotinidase deficiency