Genetic Testing Registry (GTR) | Genetic and Rare Diseases Information Center (GARD)

Supported Diseases

Alkaptonuria

Synonyms: AKU, Alcaptonuria, Ochronosis, hereditary, Alkaptonuric ochronosis, Homogentisic acid oxidase deficiency, Homogentisic acidura

CHILD syndrome

Synonyms: Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, Ichthyosis, CHILD syndrome

Dravet syndrome

Synonyms: Severe Myoclonic Epilepsy of Infancy, SMEI, Myoclonic epilepsy, severe, of infancy, SME

Familial avascular necrosis of the femoral head

Synonyms: Familial osteonecrosis of the femoral head, Primary avascular necrosis of the femoral head

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