Ichthyosis-sclerosing cholangitis syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | C1843355 | CLDN1 | Causal Pathogenic evidence from ClinVar | 15521008, 29146216 | ClinVar |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 59303 | CLDN1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |