Biotinidase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Biotinidase deficiency 79241 BTD Causal Pathogenic evidence from ClinVar - ClinVar
Biotinidase Deficiency C0220754 BTD Causal Pathogenic evidence from ClinVar 7550325, 8894703, 9099842, 9158148, 9232193, 9375914, 9396567, 9506660, 9654207, 10206677, 10394193, 10400129, 10801053, 10801060, 11313766, 11380987, 11668630, 11865279, 12227467, 12359137, 12618081, 14628140, 14707518, 15059618, 15060693, 15776412, 16435182, 17185019, 17382128, 18645204, 19728141, 19757147, 20083419, 20224900, 20539236, 20549359, 20556795, 20981092, 21228398, 21752405, 21907891, 22011816, 22106832, 22698809, 22975760, 22995991, 23481307, 23644139, 24516753, 24525934, 24630269, 24797656, 24932929, 25087612, 25144890, 25174816, 25333069, 25423671, 25754625, 25967232, 26334177, 26361991, 26589311, 26810761, 27207447, 27329734, 27604308, 27625817, 27629047, 27657684, 28498829, 28971021, 29353266, 29359854, 29995633, 30616616 ClinVar