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Disease Synonyms Description Articles Phenotypes
thyroid dyshormonogenesis 1
iodide accumulation, transport, or trapping defect.. [+]
A familial thyroid dyshormonogenesis that has_mate..[+]
thyroid dyshormonogenesis 2A
iodide peroxidase deficiency; TDH2A; thyroid perox.. [+]
A familial thyroid dyshormonogenesis that has_mate..[+]
thyroid dyshormonogenesis 4
iodotyrosine dehalogenase deficiency; deiodinase d.. [+]
A familial thyroid dyshormonogenesis that has_mate..[+]
developmental and epileptic encephalopathy 93
infantile or early childhood epileptic encephalopa.. [+]
A developmental and epileptic encephalopathy chara..[+]

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