Genetic Testing Registry (GTR)

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

Synonyms: Dermatoosteopoikilosis, BOS, Dermatofibrosis, disseminated with osteopoikilosis, Dermatofibrosis lenticularis disseminata with osteopoikilosis, Osteopathia condensans disseminata

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

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

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