Holocarboxylase synthetase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Holocarboxylase synthetase deficiency | 79242 | HLCS | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Holocarboxylase Synthetase Deficiency | C0268581 | HLCS | Causal Pathogenic evidence from ClinVar | 7842009, 8541348, 8817339, 9396568, 9870216, 10068510, 10190325, 10590022, 10653324, 11124959, 11185745, 11735028, 12124727, 12633764, 16134170, 16231399, 18429047, 18974016, 19157941, 19695181, 20026029, 20095979, 21874615, 21894551, 22027809, 24085707, 24215330, 24239178, 25087612, 25525159, 25690727, 26938784, 27114915, 27604308 | ClinVar |