Disease Term Disease ID Gene Symbol Classification References Source
Allan-Herndon-Dudley syndrome 59 SLC16A2 Causal Pathogenic evidence from ClinVar - ClinVar
Allan-Herndon-Dudley syndrome (AHDS) C0795889 SLC16A2 Causal Pathogenic evidence from ClinVar 14661163, 15488219, 15889350, 17899191, 18398436, 18636565, 19194886, 20713192, 23550058, 24265446, 24721225, 24847459, 25380603, 25527620, 26426690, 27805744, 28526555, 29109240 ClinVar