Genetic Testing Registry (GTR)
Supported Diseases
Alkaptonuria
Synonyms:
AKU, Alcaptonuria, Ochronosis, hereditary, Alkaptonuric ochronosis, Homogentisic acid oxidase deficiency, Homogentisic acidura
Buschke-Ollendorff syndrome
Synonyms:
Dermatoosteopoikilosis, BOS, Dermatofibrosis, disseminated with osteopoikilosis, Dermatofibrosis lenticularis disseminata with osteopoikilosis, Osteopathia condensans disseminata
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