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  2. Genetic Testing Registry (GTR)

Genetic Testing Registry (GTR)

Genetic Testing Registry (GTR)
Website: https://www.ncbi.nlm.nih.gov/gtr/

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

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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